~Lane Hauber~ Full Trisomy 18 12/08/2008

I went in to deliver my son on a beautiful December day in 2008. The pregnancy went smooth, although I had a few abnormalities. I was tired the whole time, I never looked very pregnant, and I had to take several stress tests towards the end. I was reassured everything was fine with my son although he would be a little small. I delivered Lane vaginally and when my husband went to cut the cord, my OB/GYN shook his head and quickly rushed Lane over to a bassinet. I hadn't heard a cry...then people started rushing in to help Lane breath. While they were working on him, I remember asking my husband what was wrong...he moved himself between me and Lane, and just kept saying, "everything is going to be ok". Finally, Lane was stable and within hours they were transporting him to the nearest children's hospital. He was very small, his head was an odd shape, his hands were clenched and so they had suspicions of a chromosome abnormality. I discharged myself from the hospital less than 24 hours after giving birth because I needed to be near my baby. I was scared, confused, overwhelmed...my world was crashing down around me and it was because something was wrong with my baby and I didn't know how to help him. The first couple of days in NICU, Lane was not stable...he was having apnea episodes. The specialists were running all kinds of tests, and we were just trying to make sense of what was going on. The Pediatric Cardiologist talked to us, saying that Lane has a VSD and an ASD. However, it was a routine surgery and they wouldn't have any problems repairing Lane's heart condition. Then...at 3 days old, MY WORLD TRULY CRASHED! We walked into the area where they were caring for Lane, and we noticed a DNR attached to his crib. The nurse immediately brought the doctor in, and that's when he said the words, "Lane's FISH test results confirmed a full Trisomy 18 diagnosis". We asked why he had a DNR and the doctor told us that babies with this diagnosis won't live long, maybe a few days to a month at the most. We told the doctor that we didn't appreciate him putting a DNR on our baby without speaking to us first or getting our permission. He told us he didn't have to get our permission. Then we were told that they wouldn't be performing heart surgery on Lane...there wasn't anything more the hospital could do for our son.

At 9 days old, we took Lane home on hospice. He was remaining stable and I wanted him to be at home in our arms when he passed away. Within a couple of days, I had the hospice chaplain come out to the house to baptize Lane...a memory I will cherish forever! Then Lane started having more and more apnea episodes, sometimes he would snap out of it on his own and a few times he required CPR. (I've since learned that a common treatment for apnea in preemies is caffeine therapy) The apnea episodes lasted until he was a month and a half old and hasn't had one since. At two months old, we took Lane in for a cardiac appointment and asked if they would reconsider heart surgery since Lane was getting stronger and stable...again, he was refused. However, we were able to get him in to get a g-tube. At the time, Lane was pulling his ng-tube out daily and we had to do something about it. The surgery went smooth even though the doctors kept trying to get us to change our mind. They said he would never come off the breathing machine...Lane came off immediately.

At 6 months old, we took Lane to another children's hospital to get a second opinion on heart surgery. We were told by the surgeon that if Lane lived to be a year old, then they would perform a heart cath. to see if he would qualify for heart surgery. We waited...and during this time Lane was taken off hospice at 10 months old because he was doing too well for the hospice services.

At a year old, we took Lane back to hospital. They performed a heart cath and the results came back that Lane's pulmonary hypertension was too high and they couldn't risk doing the surgery on him. I can still hear the surgeon's words, "If you ask me to perform heart surgery on Lane, then you would be asking me to assassinate him." However, the doctor that performed the heart cath. suggested that we put Lane on Sildenafil (a liquid form of Viagra) to help with Lane's pulmonary hypertension.

Then...we find out that Lane's going to be a BIG BROTHER! We were still having issues with Lane vomiting, it seemed like anything would set it off. I was worried because I kept getting bigger and was afraid I wouldn't be able to help in time...I was afraid he would aspirate. So...after months and months of trying different reflux medications, I convinced the GI doctor to get Lane a nissen fundoplication. The nissen fundoplication would keep Lane from being able to vomit, so this seemed like the perfect solution. The surgery went smooth, however, 12 hours after surgery Lane started to swell, he hadn't urinated since before surgery, and when he got another dose of Dialaudid...it caused him to CODE. They were able to revive him, he went to PICU on a vent, and during the first night he got a fever of 103.9. He was fighting for his life. While Lane was fighting, I asked to read the book about prescription drugs, and from what I read...Lane never should have been given Dialaudid. It's not recommended for pediatric patients with heart and lung issues. Well, 4 days later, Lane was off the vent and we headed home again.

Lane has continued getting stronger and stronger. He has learned how to hold his head up over-time, he can now sit up by himself, he can roll over on the floor, and he can sit himself up in his crib from a lying position. Lane receives physical, occupational, and speech therapies at our home. At the age of 3, he graduated from ECI and officially become a student. We decided to have Lane home-schooled for right now because it's just so easy for him to pick up the awful germs with his lower immune system. Aside from his 3 surgeries (g-tube, nissen fundoplication, and ear tubes) and a few hospital admissions for respiratory viruses, Lane has remained stable and has fought illness quickly.

Recently, I have changed most of Lane’s medical team. I felt like I was dead-locked and I couldn’t get any of them to get him the appropriate medical care. I found a pro-life pediatrician (pro-life meaning the doctor sees all life as valuable and precious) and he has been great with Lane! We found a new ENT specialist that put tubes in Lane’s ears in July of 2012. And…we found a new Cardiologist that helped us find a doctor that could help Lane with lowering his pulmonary hypertension (He is now on a medication called Tracleer (Bosentan). If we can get it lowered, then we also found a surgeon that has performed heart surgeries on other t18 and t13 children and he’s willing to help Lane too.

Lane is now 4 years old and he's fighting the good fight! We are so proud of our little boy and he has taught us how to be better parents and advocates!

I also have a blog that I share our Trisomy 18 journey on
http://lanesedwardssyndromejourney.blogspot.com/ and here is my youtube channel for Lane with awesome videos of him and also awareness videos I've made for the Trisomy community http://www.youtube.com/user/alihauber?feature=mhee
Also, here is a link to the Channel 8 news program about Lane http://www.wfaa.com/home/related/Parents-fight-for-sons-medical-rights-138485294.html and here is a beautiful article my husband wrote for lifesitenews http://www.lifesitenews.com/news/trisomy-18-bella-santorum-and-the-truth-about-miracles

Alisha Hauber

Our son ,Isaac Josiah, was born with Down syndrome in May of 2010. I refused the “quad-screen” and amnio because it didn’t matter to us. Although I had five sonograms, and our slick son managed to hide his extra chromosome from everyone. As soon as Isaac was born, I think I knew, and I thought he was the most beautiful baby I’d ever seen and I fell even more in love with him. My husband knew Isaac had Down, he had those beautiful almond-shaped eyes, and an identical profile as someone who has Down syndrome. The doctors confirmed with an initial diagnosis, and although my husband already knew, I allowed myself to continue in this light, but bitter taste of denial and pretended to be a bit surprised while speaking to the pediatric doctor. I really just wanted them to leave, I needed a minute to let this sink in. When speaking to the cardiologist, I actually attempted to act out of it and too sad, because I wanted him to stop what he was saying, but he didn’t. We were far more concerned about his heart. Isaac has a VSD and was on oxygen for his first six months of life. The hospital made his heart condition such a focus, it was vastly blown out of proportion by physicians. After seeing your baby in intensive care, with doctors telling you he as two holes in his heart, is far scarier than any Down syndrome diagnosis.

Those first 24 hours were some of the most perplexing, shocking, scariest, and elating moments of my life. I was so grateful for this beautiful, warm, sweet toe-headed baby who was sprawled out (his preference) under the newborn incubator, already relishing life without a care in the world. I was so happy he was here, he just came with an extra surprise, an extra love chromosome. What you always wished a human being could be like; you have born. It’s a remarkable life!

DS is not what my son Isaac is. He merely carries one extra chromosome that the rest of us lack. Yes, there are many doctors' appointments and therapy sessions, awesome support groups and hours spent researching, but you do this because you adore and love your glorious and special child for their courage, strength, and unconditional love. The Ds family and friends I have gained are the most incredibly loving and caring people I have ever known. So be sure to reach out during your journey!

This is a poem I added to birth announcements after Isaac was born:

Ƹ̵̡Ӝ̵̨̄Ʒ Isaac Josiah Combs Ƹ̵̡Ӝ̵̨̄Ʒ
We love you just the way you are

The night Isaac was born, stars sparkled the sky
Our lives would change, and here's the reason why
“Down Syndrome” they whispered, Shortly after his birth
Two words that portrayed A false image of his worth
You see, Isaac is different, far better than planned
For our son was born with a line across his hand
He carries one extra chromosome that the rest of us miss
And ten chubby fingers & toes we all kiss
No matter the voice used, Two words can never describe
The fullness Isaac has added To all of our lives
He is one of the children So special and few
That came here to learn The same lessons as you
That love is acceptance It must come from the heart
We all have the same purpose Though not the same start
They’ll be many things that Isaac can do, They'll be things that he cannot
Please remember he's more than the syndrome he’s got heart!

Isaac's Mom

Lachlan ~ Mosaic Trisomy 18

At the end of 2009 I had my life all planned out. I had one more year of at home/part time work as my youngest daughter was in preschool in 2010 and then in 2011 when she started school I would be back to full time work in our optometry practice.

However, it did not turn out like that at all because a surprise pregnancy happened. In January 2010 I was referred for nuchal fold testing and bloods due to my age (39) I was not concerned and just happy to see my baby via ultrasound. The next day the doctor who had referred me for the tests and that I had only met at that visit called me and my husband in for an emergency consultation. We knew something was not right. She explained that there was a very high chance our baby had T21 or T18. A 50% chance and that I needed to get this confirmed at MFM in Brisbane (our capital city) if it was confirmed they would then arrange termination. This black and white view is what has stayed with me most from that visit I can remember thinking there is just no way I am going for termination.

Four weeks later after seeing my Obstetrician we arrived at MFM and received genetic counseling and then a high level ultrasound. Lachlan looked good on ultrasound a SUA was noted and he was small but no heart abnormality and a nasal bone was seen and we found out he was a boy. I continued with the high level ultrasounds and these findings remained consistent through out my pregnancy. He had a brief time were he developed choroid plexus cysts which then went. I was counseled to have amino or brain MRI's. I refused. I spent the majority of my pregnancy hoping the initial nuchal fold results were wrong and that he just had IUGR. However, at my very last ultrasound they picked up a horseshoe shaped kidney and he was still very small. I began to believe in T18.

Because no one knew for sure what was causing Lachlan to be so small. I was given an c-section at my last obstetrician visit I was at 39 weeks. I was absolutely terrified not only because of the procedure (my other two births had been natural and wonderful) but also because of the possibility Lachlan may not be born alive. Lachlan was born not breathing and had to be resuscitated. The five minutes seemed like an age until a nurse came back and told us he was breathing his apgar score at 5 minutes was 8.

Lachlan spent 3 and a half weeks in special care. He had a heart murmur. Due to this and his kidney shape he was tested genetically. T18 was confirmed.

T18 is not something anyone wants for their baby. I spent the first year on tenderhooks because he was supposed to die yet I never really could get my head around that either because he just seemed so real. Things started to happen for Lachlan after he got pneumonia at 5 months and shook it off. He was referred to early invention services. I was able to connect with other trisomy mums and receive support and also learn a great deal about the syndrome.

After he turned one we let out a collective sigh he had stayed for everyone's birthdays, all the yearly celebrations and was enjoying his life. We had already be given much much more time than many families get with their child and were so grateful. Lachlan is on his own timetable he is now 18months old. He is happy, developing slowly and much loved. He has given us so many gifts. It is not an easy road and we are not suddenly perfect people for having someone so special in our midst. Having Lachlan was not in our plans but I am glad he was in ours.

~Lachlan's Mom~

Naiyah, My Precious Baby & Angel has brought me unequalled Joy. She has the sweetest disposition and a wonderful sunshine smile. My Baby Girl and I...as her Mother has a Special Bond that we Share Together...A Blessing to experience...No sooner she recovers from any episode health issues cast at her or any procedure the hospital imposes on her than she bounces back to her sweet disposition and its signature radiant smile. My baby age 2 1/2 yrs.old has Full Trisomy 13 which affects the Cerebellum of her Brain/Malformation of the Brain causing her not being able to walk, crawl or sit up alone. Speech Therapy for swallowing difficulties and speech. PT & OT are techniques to stimulate the brain to overcome growth and developmental delays. Naiyah is loving, affectionate, sweet, happy, very observant and intelligent. Brigance & Peabody tests done showed preliminary amazing abilities n purposeful actions w/no prep ahead of time. Shocked the OT that feels she is severely handicapped n fragile.The OT, PT & Nurse with Infants & Toddlers Program Early Intervention think she is Blind & Deaf when she ignores or does not pay attention to some of their activities. Even when presented with Sight & Hearing Results/Tests showing Naiyah has Sight (Opthamologist) & Hearing (Audiologist). Plus myself and her father letting them know her abilities...Naiyah is selective with certain people just any child could react and she shows them in so many way her focus and abilities....She is very observant, strong attention span, intelligence, deliberate focus, can mimick and repeats learned behavior. Watching her reminds me of what it means to have Triumphant Joy in the Lord no matter what Life throws at us. Though the challenges are many and the emergencies relentless, my baby personifies the observable Wondrous and Miraculous handiwork of God; for, the doctors influenced by their literature on Trisomy 13 estimated her life span in hours, days, weeks or a couple of months at best. That was on the First of September, 2009 (two and half years ago), when she was born! God be Glorified. I pray that the medical profession in particular and all humanity in general will value all lives and focus on giving each person a chance while leaving the span of life in the domain of All-Knowing Omniscient Triune God. Every Moment Precious... Miracle to survive a rare chromosonal disorder labeled as not compatible with life or failure to thrive. There are Survivors Thriving such as her. While trisomy emergencies cannot be completely avoided, I learned that cautionary preventive measures can lessen their frequency and trusting the Lord can help defray the intensity of the anxiety, worry and fear they engender. Around the clock medical supportive and childcare may be labor and demand intensive but the joy of my precious baby outweighs anything else. Copyright (c) by Stephetra Anyaibe

Affectionately,
Stephi (Naiyah's Mom)

Alyssa ~ Full Trisomy 18 ~ 11 1/2 years old

On April 25th, 2001, we decided that it was time to induce because we were 10 days over. I couldn't wait...labor went quick and easy! Before I knew it, she was here, all 4 lbs 12 ounces, but I didn't hear her. They quickly held her up and rushed her off to the NICU. Her APGARS were 5@ 1 minute and 1@ 5 minutes. What was wrong? All they were telling me was that her heart wasn't doing what they needed it to do and that they needed to transfer her to San Diego Childrens Hospital. On April 27th, we got her confirmed diagnosis of Full Trisomy 18 and were told there was nothing more they could do for our daughter. Our world was shattering as we signed a DNR and took our baby girl home with hospice to spend whatever time God would give us.

Growth was slow, doctors were plenty, but Alyssa was showing to be a fighter and by 10 months she had her first procedure done. A cardiac cath to coil her PDA. The hospital became a second home, mostly due to recurring UTI's, but after surgery to create a Vesicostomy...hospital stays almost ended.

We took our leads from Alyssa and the doctors...between her strength and their knowledge. She is now in the local Middle School as a 6th grader and is enjoying choir class. She is non-verbal, but her smiles can light any room and she makes friends anywhere she goes. Now, Alyssa is 11 years, 5 months and a whoppin' 49lbs.

Alyssa has been the biggest blessing to our family. Her brother and I tell her daily just how much she means to us. Alyssa and Trisomy 18 has changed our world for the best. We still live one day at a time. However, worry can creep in when I least expect it, but we have learned that every small thing is something to celebrate.

Alyssa's Mom

Emerson ~ 18 months ~ Partial Trisomy 18q

Emerson was diagnosed with Partial Trisomy 18q at 17 weeks gestation due to family history of a translocation as well as “soft” signs found on ultrasound (club foot and nuchal fold thickening). Emerson was induced at 40 weeks 2 days and immediately admitted to comfort care while in the hospital and Hospice at home at 2 days old. He was not able to latch to the breast or the bottle – NG tube placed at 24 hours of age. At 19 hours of age, he began having obstructive apnea episodes that caused him to turn blue – the longest lasting 1 minute. He was placed on oxygen at that time. Emerson continued to be a pale color unless he was skin-to-skin with Mom for the first 2 months of his life. He was less pale when he was skin to skin with others, but pink when with Mom – we utilized a Moby wrap during the day and then he slept skin to skin on Mom’s chest at night.

At 9 days of age, Emerson pulled his NG tube out and also had hand castings done that same day. It took 30 minutes to get his NG tube back in because his nasal passages were small at that time. Consequently, that wore him out, and he had 2 more significant obstructive apnea episodes the following day. We learned that Emerson could only have 1 stressful event per day at most in the beginning – this stress included getting dressed, a bath, weights, etc. We had to plan accordingly. Emerson was held by all family and not put down for the first 2 months of his life. Emerson’s pediatrician made weekly home visits for the first 2 months and then after that only when very sick. Emerson worked with a lactation consultant from the beginning and also a speech therapist starting at 2 months to help assist with nursing or attempting a bottle – the most Emerson was able to suck was 15ml.

At 2.5 months of age, Emerson had his first abdominal ultrasound that showed he had a morgagni diaphragmatic hernia. We opted at that time not to treat since he was not showing signs and symptoms of distress. Emerson began occupational therapy when he was about 2.5 months old. They initially started working with his club foot and his hands. We did stretching exercises with his club foot 3 to 4 times per day before he had his cast placed. Emerson had his cast changed weekly and he wore it for a total of 5 weeks. In between getting the old cast off and getting the new cast on, Emerson would get a Rubbermaid bin bath, and stretching exercises done on his foot. After 5 weeks of casts, the orthopedic doctor anticipated that Emerson would need to have his tendon cut. He removed the last cast and discovered that Emerson’s foot was doing wonderful, so the tendon release did not need to be completed, and Emerson went straight to wearing braces.

Emerson had his first illness when he was 3 months old. It was a cold, and it required his O2 to be increased and him to start on antibiotics. He had his first sleep study done at 5 months, and he had a really hard time with obstructive apnea. The lack of sleep and having to go into his braces resulted in another cold. His O2 saturations kept dropping into the high 60’s low 70’s when he tried to sleep if we didn’t have his mouth held open with one of our fingers. He turned purple from the waist down at 2 times during this illness, and it resulted in a 12 hour hospital admit. He was subsequently started on antibiotics again that he continued on and off until he was 11 months of age. He also started on a BIPAP at that time which enabled him to get a few hours of good sleep – he was like a new baby when he woke up! He utilized his BIPAP every night and nap until he was 7 months old and then only PRN with severe illness after that.

Emerson got his first tooth when he was 7 months old – 2 days before going into surgery. Emerson had his first surgery when he was 7 months old. It was 6.5 hours long and included a mandibular distraction to lengthen his jaw, a diaphragmatic hernia repair, ear tube placement to help with hearing (he had not yet had an ear infection), g-tube placement, and also exploratory. We did not plan of fixing the diaphragmatic hernia because he was not showing symptoms of distress from it, and on x-ray it did not appear to be that large. The surgeon found a different story when he was exploring with the g-button placement. Emerson’s liver and colon were taking over half of his right chest cavity, so we opted to repair it so his lung could fully expand and give him a better chance. They attempted to remove his adenoids at that time, but his jaw was set so far back that there was no room to perform the procedure, and visualization could not be made, so it was not safe. Emerson stayed on the vent for 5 days (as planned) after the mandibular distraction – they turned the screws lengthening the distractors twice daily. He did have issues while on the vent – Emerson takes propranolol which is a Beta-Blocker medication for his high blood pressure caused from his coarctation as well as his sleep apnea. He was taking this while on the vent – every time they turned him, the ET tube caused a valsalva maneuver. His Propranolol prevented the Beta cells from counter-acting this response, and his heart would pause. The longest was 12 seconds. He had to be bagged every time they turned him. The medical team discontinued the Propranolol until he was extubated, and this issue stopped. He also began to become tolerant to the medications he was being sedated with (morphine and Ativan). The oral surgeon wanted to keep him on the vent another day because his micrognathia was so severe, but because of his issues with medications, Emerson began fighting the vent, and he was extubated. When Emerson was extubated, we discovered that he had a second tooth!

Emerson continued to have the distractor screws turned twice per day for a total of 10 days (his jaw was lengthened 20 mm or almost an inch). Emerson came home after 11 days on baby rehab (from morphine) without oxygen or an NG tube. We had issues with g-button feedings for the first few months after his button was placed. Emerson did not appreciate the manipulation of his stomach! He had vomiting, and we were only able to feed him 3oz at a time (before surgery he had 5oz at a time). Emerson passed a swallow study, so we began attempting solid foods, and more time at the bottle and breast. Emerson stayed infection free for 1 month, and then his sinus infections came back.

He continued to get colds, and oral feeding was challenging due to his illnesses, so he did not progress well. Emerson got sick again at 9 months of age that required BIPAP. It was decided at that time that his adenoids really needed to be removed sooner rather than later because they were beginning to completely close off his airway from the chronic infections.

At 10 months of age, they were removed along with the distractors. Emerson began physical therapy at 11 months of age. He started with sitting, taking steps with assistance, crawling with assistance, and rolling. He switched to attempting to do more with his hands during occupational therapy at this time. He then started a research study focusing on sitting and crawling when he was almost a year old. This study helped strengthen his muscles. He worked on a baby treadmill, climbing, sitting, crawling, standing and playing, sitting and playing, and using an iPad.

Emerson saw the eye doctor for the second time when he was about a year old. It was at that time that his neuro ophthalmologist decided that his far-sidedness was improving, but his eyes were remaining crossed. We began patching his eyes for an hour per day to attempt – switching eyes each day – to attempt to strengthen them. Emerson continued to have off and on colds with green nasal mucous until he was 14 months old. At that time, he began seeing an alternative medicine doctor. He placed Emerson on digestive enzymes, immune system builders, and appropriate probiotics. Emerson continued to get colds off and on, but his nasal drainage changed from green to clear on this regimen, he began pooping on his own, and he quit vomiting 2 times per day. We were able to increase his feeds back to 5 oz, and he began growing and gaining weight again. He also questioned how well Emerson’s kidneys were working at that first appointment based on labs and x-rays. 2 weeks later, Emerson was found to have bilateral nephroblastomatosis, a precursor to Wilms tumor on his routine abdominal ultrasound. Emerson was sedated for the third time to have MRI’s completed. The cancer was localized to both kidneys. Emerson saw an oncologist the next week. His oncologist took one look at Emerson and agreed that he should be treated, but also reported that 2 of his partners did not feel Emerson should be treated due to his diagnosis of Partial Trisomy 18. This was the first encounter that we had with doctors not thinking that Emerson should be treated. Emerson’s oncologist recommended that we take his case to the ethics committee so that we could have papers in hand saying that this is his treatment plan and no one can derail it! We prepped for the ethics committee by creating a resume for Emerson. It included all of his accomplishments, a list of everything he has been though and survived, and the objective – “to live my life to its fullest and fulfill the purpose that God has for me.” We also created a poster full of pictures of all of the things that Emerson can do and things he loves to do. We went into the meeting knowing that there were some people there that did not feel Emerson should be treated. We took Emerson with us, and he showed off his strength. We talked about the hard times and how we knew that Emerson wanted to fight to keep living. We left the meeting with people crying. We received a call the next day that the vote was unanimous in favor of Emerson receiving treatment.

Emerson was scheduled to start chemotherapy when he was 15 months old, but he came down with parainfluenza 3. This virus resulted in a 4 day hospital stay, and the need for up to 3 liters of oxygen. It took him a week, but he got over it and was weaned off the oxygen again. Anesthesia wanted to make sure he was good and healthy before sedating him, so he had to wait until he was 16 months old before starting chemotherapy.

In the mean time, he saw his eye doctor again. He wanted to botox his eye muscles that cause his eyes to turn inward in an attempt to force the other muscles to strengthen. Due to chemotherapy being initiated soon, this would have to wait. A port-a-cath was placed during this surgery. A week and a half later, the port-a-cath was out of the vessel, and a second surgery was performed to place a second port-a-cath. Six days later, the second port-a-cath was beginning to be pushed out of the vessel, and a fibrin sheath had been formed over the entire tubing of the port-a-cath. It was clear that Emerson’s body did not want this port-a-cath. We are unsure if the rejections were due to an allergy, or the vessel they were being placed in. Either way, he had to have a Hickman central line placed. After 5 doses of chemotherapy, Emerson had follow-up CT scans done. His tumors were almost undetectable at that time.

He continues to receive chemo – he has a total of 13 rounds he will need to receive over 19 weeks. Emerson has slowly worked on therapies, but progress has been slow-going with the introduction of chemotherapy into the mix. He will attempt side-stepping, and he is doing more with his hands, but it is limited. He loves to stand, sit, and crawl. He gets so proud of himself! He loves to snuggle, play with his brothers, suck/chew on his fingers, play games, listen to music, attempt to potty on the toilet, and take car rides. He hates bath time! He has continued to get teeth – he has 10 teeth at 18 months of age, and he is working on 3 more. He is slow to get them – it took 3 months of teething and swollen gums to pop his first molar, and after 3 more months, he is still working on 2 molars.

Emerson's Mom

--GIULIANA LYNN--
This is the story of Giuliana Lynn. She was born August 2010, weighing only 4lbs and 2.5 oz. Pregnancy with Giuliana was relatively normal. Aside from her small size, her growth remained consistent and no other issues were present. She was unable to tolerate labor and so an emergency c-section was needed.

She arrived in a significant amount of respiratory distress and we asked that she be intubated so she did not struggle. At this time, the doctors had told us that Giuliana had some markers for Trisomy 18, a condition we had never heard of before. They sent her blood work to the lab for confirmation and placed her in the NICU. At that exam, it was discovered she had a large cardiac defect called a VSD. She also had an ASD and a PDA. The next day the doctor came in to tell us the blood work was positive for Trisomy 18. They told us that if they would have known prior to her birth, we would not have received a cesarean and that they would have let her labor. The positive diagnosis meant all breathing assistance was now to be removed. We asked for one more day with our daughter which we were reluctantly given, and were told to make arrangements for her funeral. No one knew what was next.

10 days later, Giuliana arrived home. She was breathing room air at 100% o2 even with her heart condition. The joy of her meeting the warm August air for the first time was quickly chilled as we were greeted by the Hospice people and the Do Not Resuscitate order.

We realized that there was so much we needed to figure out about Trisomy 18 for ourselves, and in the meantime could not let Giuliana die without exhausting every option available. On our own, we sent G’s records to multiple facilities looking for a surgeon who would repair her heart. We found that surgeon and our family traveled 23 hours by car with our fragile baby. Giuliana’s heart was fully repaired at only 6lbs 13oz and 2.5 months old.
At ten months, we would find out that Giuliana was now Mosaic Trisomy 18. It had been her diagnosis all along , but was not confirmed until we consulted with a new genetics doctor. No further testing was ever done.

G presented with a major kidney stone problem around ten months as well. She was stented for three months only to find out the stent was incorrectly placed and was actually causing more harm than good. She then had a Ureteroscopy to crush and remove the stones. She is currently stone free.

For the next year, G battled through multiple issues related to constipation but no one could tell us why. Laxative after laxative was prescribed and almost cost G her life. She was having extreme sensitivities to the drugs causing major desaturations, high heart rates (that were not true arrhythmia’s), personality changes, seizure like twitches (that were not true seizures) and was consistently sleeping. She was given a Mini Pena procedure, which made no difference in the treatment of her underlying issue. She ended up in the ICU and will never be able to have surgery again without being intubated. Giuliana has an extreme intolerance to opiates.

We tried one more time with high hopes to find someone who could help G. A renowned motility specialist told us that G had no underlying medical GI or motility issues. I have since then changed her to a totally gluten free diet, even though she has never tested positive for Celiac’s. G is now 100% regular and potty trained!

We are so proud of Giuliana and all she has accomplished and endured. We know that she will continue to break down stereotypes and educate the world about Trisomy 13/18 . We share her life and her story so she can bring hope to others because we were not given this option. Giuliana is truly the best “little” big gift we have ever been given. Love you G!!!

Please visit our blog at http://g-giftoflife.blogspot.com/

Here is a link to our most recent article in the news http://www.wkbn.com/content/news/local/story/Poland-Girl-Has-Same-Disorder-as-Santorums/gUuvra1slkSRbYv4ugZXIg.cspx

And...here is my awareness video on youtube http://www.youtube.com/watch?v=lcBHjrXjvdE

Jill DelSignore, Giuliana's mother.

Emily ~ Full Trisomy 18 ~ 6 1/2 years old

Of course, as with all T-18 pregnancies, we were told Emily wouldn't survive. I went 39 weeks with my pregnancy and delivered via c-section because she was breech. Emily came out crying and didn't need oxygen! She didn't know how to suck-swallow-breathe, so she was fed through an ng tube. While in the NICU I remember a nurse telling me, "Let's try and teach her to take a bottle." I said "Why not!". Well, she learned! We had to supplement her feeds because she wasn't swallowing all the milk, but she was learning! After 14 days in the NICU, we came home with hospice and an ng tube. That very first night we were home she started screaming at 2:00 a.m., pulled the ng tube out and I wasn't about to reinsert it! I stuck a bottle in her mouth and she never looked back! She's been eating by mouth since then! Emily's first year of life was very uneventful. She stayed out of the hospital up until she was 11 months old. We didn't know what was wrong with her, so Emily was flown to the hospital where her doctors were. We thought this was "the end"! Well, it turned out to be the stomach flu and she was discharged two days later! After Emily turned one on December 20, 2006, that's when the pneumonias started! She had three pneumonias in 11 months! We decided in 2009 that it was time to fix her heart, even though she was "well balanced" according to her cardiologist. The surgery went smoothly until the surgeons were unable to take her off bypass. Emily had undiagnosed pulmonary hypertension and they didn't know what else to do. The surgeons, along with her cardiologist, spoke to us in one of the family rooms at the hospital to tell us that Emily was going to die. My husband immediately broke down crying, but I didn't. I think I was in shock! The surgeon told us there was one final thing he could do and that was to put her on ECMO. I had no idea what that was, but I said "Do it!". After they left the room, I called the priest who baptized Emily the day she was born. He was at the hospital within 10 minutes and that's when I lost it. After who knows how many hours later, Emily was brought to the PICU attached to this monstrous machine! We were surrounded by 20 people from the PICU and all I can remember is everyone looking at us. I remember asking one of the cardiologists if Emily was ever without oxygen because I didn't want her to be a "vegetable" when she woke up. The doctor said she was never without oxygen. Emily spent 7 days on ECMO. It was keeping her alive, but at the same time it was killing her little body. She had to come off it! The PICU doctor prepared Emily's body for de-cannulization by pumping her up with steroids and making sure her only kidney was working. On the 7th day, with absolutely no hope from any of the medical staff that Emily would survive, Mark and I said our final goodbyes to our sweet baby girl. Thirty minutes later, while waiting in the PICU family room, the PICU doctor along with Emily's nephrologist came to tell us that Emily made it! Another miracle!! My baby girl spent another 6 weeks in the PICU recovering from this horrendous ordeal. I'd heard from the doctors that adults don't recover from ECMO and very few children do! All of Emily's doctors continue to talk about her in meetings to this day because coming off ECMO, on top of having Trisomy 18, is truly a miracle! It has been three years since Emily had her heart surgery and has continued to thrive! She remains medically fragile, despite having her heart fixed. In April 2011, Emily spent 8 days in the hospital for RSV. That was the very first time she caught RSV because all the previous years she was getting Synagis. She was now 5 years old and considered "too old" to receive Synagis according to the insurance company. I truly believe that if Emily hadn't gotten her heart fixed when she did, the RSV would have killed her. She spent 8 days in the hospital WITH a fixed heart!

Emily has never been "failure to thrive", despite what all the literature that's out there says. She has proven herself to be quite a little fighter! Emily continues to amaze everyone that meets her! She is a beautiful, happy, playful sweet little girl! Yes, it's difficult caring for a child with multiple disabilities, but Emily has shown me what pure, unconditional love is! She is perfect!

Emily's Mom

Jerrod ~ almost 7 years old ~ Trisomy 18

I have been putting this off for a very long time. Where do I start? Well...I guess from the very beginning. This is Jerrod's story.

November 2005, we are expecting our 6th grandchild, and it's a boy to be named Jerrod Jr. You see, as some of you know Jerrod is not my biological child, he's my grandson. Actually, he's my step-grandson from my step-son, but I look at him as neither...he IS my son! Well...at 32 weeks of pregnancy Jerrod's moms blood pressure is dangerously climbing so the doctor decides it's time to deliver by c-section. At the time that's the only concern we had, we didn't know the baby had any problems. I think the parents were told and they didn't understand. Both his parents are deaf and they had a friend interpreting who probably didn't understand either. I do remember standing in the hall before she was taken into surgery and the friend coming out and saying, "The doctor said he's going to be born with one arm shorter than the other, but it's going to grow". And I'm thinking, WHAT?? I have never heard of such a thing! So into surgery she goes. We're all in the waiting room about 8pm, and I decided to go down the hall and see if there was any news. As I'm standing there alone, the double doors fly open and out comes an incubator being pushed by two people with the tiniest baby I have ever seen, with two little clenched fists. Their holding an oxygen mask over his face that seemed to cover his whole head, and they never stopped. That was November 21, 2005, and lil Jerrod weighed 3 pounds 9 ounces. He was brought straight into NICU, where he stayed a whole month, and still...never a word on our visits that he was sick. I kept saying, "Oh...he looks like that because he's premature, and as he gets older he won't look like a little old man and his eyes will stop rolling back. So he's discharged from the hospital on December 24, 2005, weighing 5 pounds, still so little and fragile.

About two weeks later, in January, Jerrod's parents separate which had nothing to do with him. So now I'm helping out a lot more, his biological father has moved out of town. Within that same month, I'm at a restaurant one night and I get a call that the baby is sick! I hurry home and two of my step-sons pick me up. At this time, my husband works out of town and we head to his biological mom's house. As we're getting out of the car, she is driving up. She is coming from the doctor and we all go inside and ask her what is wrong. She just hands me a sheet of paper and as I start reading all I can say is, "OH MY GOD" and sit on the sofa. I'm in disbelief. There it is...TRISOMY 18! As soon as I get home, I'm on the internet with my step-daughter and daughter-in-law. We can't believe what we're reading! Incompatible with Life, Failure to Thrive, and he's going to die. This was before facebook, so this was all we knew...he won't live.

The very next morning, I'm on the phone with our priest saying, "We need to baptize him as soon as possible". Three days later, that's what we did and it was the saddest occasion I had ever attended, so many tears. Also, that day was the first time I saw Jerrod smile. I should have known he was telling me I'm not giving up yet!

Now it's time to start meeting with the doctors. In the mean time, he's struggling for every breath. He's trying to take a bottle, but most of it comes out the sides of his mouth. It's heartbreaking to know he needed some help...my poor baby!

First it's his genetics doctor I meet. He's talking and talking, all of it a foreign language, I have no idea what it all means. He says, "Trisomy 18, Incompatible with Life, Failure to Thrive, Abnormal Chromosome, Deletion, Duplication, Long Arm, Short Arm". There, it is said again...SHORT ARM, the same thing that was said the night of delivery! That's what it meant, it wasn't his actual arm, it was Chromosome 18! The doctors knew he was sick, but his parents didn't understand because their interpreter didn't understand. Not once during our visits was it ever mentioned to us. No measures were taken, he was sent home with no oxygen, no feeding tube, he was sent home to die. Now this doctor is telling us to prepare, it can be any day, at the most six months. There were so many days I thought, today is the day. All I knew was I wanted him to be in my arms when that time came.The next doctor, the Cardiologist says he has a heart murmur and holes in lower part of his heart.

Now it's March 2006, he's four months old and he's having horrible spells of apnea. He just stops breathing, he's struggling so much and now he's aspirating. I guess they figured he's still here, so it's time to help him. So he's admitted into the hospital and has a nissen fundoplication done, he now has continous feedings through the night and is put on oxygen 24-7. He stays another month in the hospital, then hospice is called in when he is discharged and he's now DNR. To think I had agreed to their decision on that, thought it was best, and they knew what was going to happen. We had no information, only that we were told Trisomy 18 children do not survive!

Now here's the day my life changes forever. Two months after his surgery, May 2006, he's now 6 months old. Hospice calls me and says, "Terry, can you take him for a while, something is wrong, he's losing weight, he's weighing only 7 pounds. This will only be for about a month until we find his mom better living arrangements"? And I replied, "Well, of course I'll take my grandchild. Not a second thought and it'll only be for about a month. Whatever I can do to help". God knew what he was doing and had another plan for me and Jerrod!

Well...as a month is nearing and an apartment has been found for his mom, I'm already thinking...I can't let him go, how will I sleep worrying about him. He now has a nurse and I'm telling her, the kids, my husband that I don't know what to do. My husband keeps telling me, they need to raise their child, but I know he was sent to me for a reason. How can I manage this? You see my brother lives with us. He's a quadriplegic, paralyzed from the chest down from a car wreak his senior year of high school and I take care of him too!

I don't recall telling anyone, maybe I did, but one day his mom got here and she's about to move into her apartment. I just said, "Let me keep him, let him stay, the check you get for him, you can keep it. Just leave him with me", and she said, "OK"!! I knew she hadn't bonded with him. I did and he bonded with me! One year later, I'm at therapy with him and the social worker tells me that when I took him, they were about to take him out of the home and place him in foster care¦.That would have broken my heart.

So he starts gaining weight, and before his first birthday he's completely off of oxygen. He only needs it when he gets sick. I told Hospice they were no longer needed and I had the DNR removed. He's a fighter!

This is all the first year of his life and how he came to be with me and my husband. We wouldn't change a thing, he's our world. I have to say, Jerrod and I have something very unique and special. I see it when he gets this look, like he's looking into my soul, with this little smile that he only shares with me. It's like he's looking at me and saying, "I love you so much and I'm glad you're my mommy"! He just feels my heart, like nothing I have ever known. I feel like I have accomplished something through him. He loves me, trusts me, and he's so forgiving. He's happy all the time, he has so much love to give. It's what you call unconditional love. Jerrod also has a special bond with my husband. Their lil routine every night, is of him putting Jerrod's pajamas on and sitting with him every night to say their prayers. There's nothing that man wouldn't do for that little boy. We love ALL of our children dearly, and they are all grown raising their own children. However, Jerrod has a special place in all of our hearts. We are so blessed to have him in our lives. So many times people have told us Jerrod is so lucky to have us. I say, "No...we're the lucky ones to have him! He's a true angel".

There's so much more I could say. Jerrod will be 7 years old on November 21st, but if you see his pictures, you can see how far he has come. He has had a few bumps and scares on this journey, but he's doing so good. This was supposed to be a very short story, but I have never told the whole story and I think it was time I told it. My husband and I now have full, permanent custody, and we love our lil boy more than words can ever say!!! For you J...Love Mommy.

Nolan Alex Chisaakay-Soucy the name we chose for our son months before he was due, was diagnosed at 22 weeks in utero with full Trisomy 18 he had a VSD and DORV, we were told to abort our son and were told he wouldn’t survive pregnancy or even birth. Well Nolan defied that odd and was born June 25 2009 carried to 42weeks.He survived pregnancy and a vaginal birth.4lbs 10z! he never required any help breathing, we got to take him home at the age of 5days old. Nolan thrived and loved everyone especially his big sister Lexi she always could put a smile on his face, they would spend hours of the day laying on the floor together playing with his toys they were inseparable . We celebrated Nolan’s birthday every month on the 25th day with cake and family...he was a pure miracle. When nolan was 11 months old he took his first trip to the ER he was sick. They had hooked him up to a pulse ox and his reading was 93 ( I expected it to be lower since he was under the weather) He was transferred to the children’s hospital (stollery) where he spent 2.5 weeks on oxygen and neb treatments for a virus. We went home with oxygen and a monitor. Nolan got well and we finally got to celebrate the big 1 year! A huge milestone we were told we would never see! It was huge. We were so proud and the doctors were floored with his progress.

At 13 months Nolan had G tube and Fundo surgery just after his 1st birthday that was a rough patch due to the fact Nolan was extremely difficult to intubate we spent 5 weeks in hospital. Finally getting home Nolan was back to himself. The giggly cheeky little boy that he was. Nolan learned to say "dada" he enjoyed talking, telling stories, picking his nose, others noses and loved rolling around. Nolan went various places including the zoo , he loved being outdoors! He loved toys that lit up and made sounds. But he especially loved cuddles he would just nuzzle into us happy as can be he was a great cuddler. Nolan left us January 21 2011 due to RSV complications. He was a pure miracle and brought so much joy, we created thousands upon thousands of memories that bring us peace. He changed our lives from the moment we found out about trisomy 18 i am now back to school for my nursing degree in hopes to change how the medical system looks at these precious children. Along with my love to help others. No matter how short or long their life maybe each one is special and a miracle .His 19 months with us were pure love and happiness, Our Nolan will never be forgotten.

Nolan's Mom

Lillian Hollowell, was born on Sunday morning, July 4, 2010. “Lilly” lived a very full life for 17 months before passing away gently on Thursday, December 15, 2011. Her entire life was a glory to God.

Our “Lilly Sunshine” had an intense will to live which she showed from the start. She was motionless, breathing weakly, for the first hour after being born, but then let out a big cry, and let us know she wanted to stay. It being Independence Day, she got the nickname “Little Firecracker.”

Due to a genetic condition called Trisomy 18, or Edwards Syndrome, she had heart damage and a very weak immune system. She got very sick and had to fight very hard for her life a number of times. However, she was well more often than sick, and a very happy little girl. She loved her family and her daily routine. She was quick to smile, very content, and loved life. Lilly blessed countless lives and touched many hearts. We are all better people because of Lilly. We rejoice that she is now perfect and whole and in the arms of Jesus.

Lilly’s family misses her greatly and looks forward to the day we will see her again.

Lilly’s proud parents: Frank and Lisa Hollowell, sister Tabitha (10 years), and brother Hunter (3 years). The family lives in North Carolina.

Lilly’s blog has readers from all over the world: www.pray4lilly.blogspot.com

The above is a modified version of Lilly’s obituary. I wanted to add some details about Lilly’s life, which I thought would be of interest to other Trisomy families.

We first learned that Lilly might have Trisomy 18 during a routine ultrasound. Soft markers were identified: she was a very small size and low weight, she had clenched hands, a heart defect, a spot on the brain, there was lots of amniotic fluid, and the umbilical cord had only two arteries instead of three. After a couple more ultrasounds, I agreed to have an amnio. We wanted to confirm one way or the other, so we could better work out a plan with doctors for delivery. (I had a midwife but doctors got involved with us once Lilly’s problems were identified.) Once the amnio confirmed Lilly had Trisomy 18, the doctors took a hands off approach. Lilly was in Frank breech position and the doctors amazingly even gave permission for her to be born naturally.

My labor and delivery with Lilly was quick - only 1.5 hours total. She was born breech after only a few minutes of pushing. She was barely breathing and motionless for about an hour and then really came to life. She was able to drink well from a bottle. Doctors let us leave the hospital within six hours (unheard of!) so we could take Lilly home to meet her siblings.

Six days later, Lilly had a number of episodes one afternoon where she stopped breathing and turned blue. My husband had to blow in her mouth and nose to bring her back. Then episodes stopped and never returned. We briefly had hospice service but then cancelled after a couple weeks.

Lilly’s heart had a large hole and she just didn’t have the strength to drink breastmilk from the bottle like she needed to. She started losing weight and seemed to be in pain off and on. When she was two months old, we traveled to Wolfson Children’s Hospital in Jacksonville, Florida for help. (We live outside Raleigh, North Carolina but could not find the help we needed here.) At Wolfson’s doctors put Lilly on an NG feeding tube and pump and she began gaining weight again. Lilly needed VSD repair but she was just too weak, so a pulmonary artery band was put on her heart. We brought Lilly back home and she really began improving.

During Lilly’s life she had two viruses, both of which nearly killed her. But to the doctors surprise, both times, she fought her way back to health.

Lilly had a g-tube placed when she was old enough, I put her on a diet of blenderized real foods. That helped her to thrive. She also had both occupational and physical therapy each week and she loved that. She was a hard worker. We had hoped to start therapy to help her learn to eat by mouth. (She only liked eating coconut oil by mouth.)

In November 2011 we returned to Wolfson Children’s Hospital and Lilly had surgery to repair her VSD. We found out at that time that her heart had two holes instead of one. Lilly recovered quickly and was out of the hospital in 9 days.

On December 5, Lilly’s breathing was odd off and on during the morning. I took her to the emergency room and asked for a chest x-ray. It revealed white spots in the chest. One doctor suggested heart failure but her cardiologist said her heart was functioning normally. I took Lilly home and started nebulizer treatments. Lilly saw her pulmonologist two days later and the white spots had become a white mass behind her heart. However she was acting just fine so we went back home. She started an antibiotic, continued nebulizer treatments, and I kept a pulse ox hooked to her when she slept. She continued to act like she was feeling fine.

On December 15, Lilly seemed to be feeling extra good. She had physical therapy and her therapist remarked that Lilly seemed to be the most energetic she had been since coming home from heart surgery. I took a video late that morning of Lilly in her bouncy seat playing with her animals hanging from the arch, and posted it on her blog. Later that afternoon, my husband came home early because he had had a dentist appointment. I had him put Lilly down for her nap for me.

She never woke up. When I went to get her up that evening, she was dead. Paramedics came and tried to revive her, but she was already in heaven. We were honestly surprised she passed away that night, but we continue to thank God that He took her so gently.

We had 529 glorious days with Lilly in our arms. We are so grateful to God for every second. What an amazing little girl she was and what a blessing to us and so many others! Thank you God for creating Lilly to be our daughter.

- - - -
I was thrilled when all the above text, along with five photos, was published in the current issue of the Trisomy support group SOFT’s newsletter, The SOFT Times. (The February/March/April 2012 issue.) We received our issue and several extra copies this week. As I write this we are almost to the 2 month anniversary of Lilly’s death. I find I just love to see my little girl’s story and pictures out there! I think that many of us parents that have lost children feel this way. We just don’t want our children forgotten!

These past almost-two-months have been up and down. We have good days and we have days where we cry. We miss Lilly every minute and my days seem so much longer now. Grieving is a strange thing. Sometimes I will just start crying about Lilly and I’m not even sure what the trigger was. But I know that it is good and healthy to cry. It helps that I have two other children and homeschool – that keeps me busy and not so inwardly focused.

Another thing that is helpful in the grieving process is that my daughter and I have been busy doing a lot of Lilly memorial type projects. Scrapbooks, writing stories about Lilly, talking about her, and making ornaments for Lilly’s memorial tree. (We have a 4 foot artificial tree with lights that we are decorating differently each month in honor of Lilly. People have even been contributing ornaments which is really sweet.) And, we are enjoying making cards to send to other Trisomy families to honor their children.

I want so much to continue to help raise Trisomy 18 awareness. I want positive stories about our sweet children to get out there. I continue to share stories and lessons I’ve learned on Lilly’s blog, which may be of help to some others. Plus everything important from Lilly’s life is recorded there, along with just day to day things. My hope is that other parents of Trisomy 18 children can find ideas, help, and encouragement on Lilly’s blog. http://pray4lilly.blogspot.com/

May God be with you all on your journey! Every one of these precious children have things in common and yet they each are so unique. They are ALL blessings!

Lilly's Mom

Jillian was born 4/21/07. I knew nothing of her condition when she was born; but, when she was I knew something was very very wrong. So many tests where done. A Trisomy 13 marker was present. "Do not search this on the internet," I was told by a genetics Doctor. I did. Heart break. Devistation. Please God, don't take her from me. I cried beside her for a long time. How can I tell her sister? How can I tell my family? She had surgery at one month old. So many Doctors were coming in and out of the hospital. Here is this label, here is that label. It seemed she was leaving me little by little. Then some results came in saying she was partial and not full Trisomy. What does that mean? I was told she would never smile as she looked up and smiled. There is life here, they cannot tell me that there isn't. So, I took her home and we started therapies. OT, PT and speech...everything I could get her. At 9 months she had cranial reconstructive surgery. They removed and reformed her forehead. She had this beautiful zig zag scar across her head from ear to ear. A little boy in Walmart said it was her CROWN! You see, she is a princess too. The days followed, the months followed and then YEARS followed. Jilli goes to school! Jilli loves her family! Jilli loves her teachers, friends and pets. She walks, turns on her lights and opens doors. Best of all, she smiles all day long. She is pure. Simply pure.

So when you see my posts about her and the prayer requests for "my" other trisomy children. Please understand, you are seeing my heart of hearts loving and fighting for these children. My goal in this world is to change this label of trisomy. They are not incompatible with life as the medical books say. If given a chance, they change lives even if it for the briefest moment in time.

Jilli's Mom

Chloe ~ Full Trisomy 18 ~ 3 years old

At 20 weeks pregnancy, we went to U.A.B.- Birmingham for an anatomy ultrasound. Brian, Sydni and I watched our sweet baby kicking and flipping as the doctor moved the doppler back and forth across my tummy. Chloe tried to kick it out of her way. We laughed! Then the doctor pointed out things that were missing, like a chamber in her heart (seems she had only 3) instead of 4. Then he thought he saw a cyst on her brain. He told us these were markers for Trisomy 18, our biggest fear! Next he suggested we have an amniocentesis done while we were there. We all watched on the big screen T.V. as the very long needle was inserted into my tummy. Chloe saw it and ran away!! The next day, the doctor called with the worst news of my life. The chromosome test was positive for full Trisomy 18. He said, "The baby will not survive. If you would like to terminate, I suggest you come back within the next few weeks." I told him, "God made this baby and when he wants her, he will come and take her! And...he would never see us again." I think I cried everyday for over a month, I thought I would lose my mind. Then one day, I said, "God...you have to help me with this, I`m giving it to you". And I did. Everyday after that I felt Chloe kicking and moving wildly inside of me, it was as if she were saying, "Thank you Mommy!"

For 18 more weeks, I did everything in my power to be healthy and keep her strong. I had bouts of high blood pressure and made many extra visits to the hospital. We prayed each day that God would get her here so she could "survive"! Chloe was born at 38 weeks at Medical Center Enterprise via emergency c-section on August 5, 2009. She weighed 4 pounds 6 ounces and was 17 inches long. I was completely sedated and did not even know when she was born. I woke up to my husband Brian and my daughter Jenni, I asked, "Is she breathing? Is she alive"? They replied with a smile, "Yes...she is doing great and we have pictures." All I could say was, "THANK YOU GOD"!

Angel One came down later that day to get her and take her to Baptist South N.I.C.U. Before she left, the Angel One nurse brought Chloe in to see us and a whole room full of family. As she handed her to me, I somehow knew she would be o.k. because looking up, I read the nurses name tag. It said, " HOPE ", just a little sign from God that he was there with us! Chloe was then transported to Montgomery where she spent 12 days in the NICU. They did lots of tests to determine the extent of her problems. Chloe was born with a minor cleft lip, large VSD, a PDA, a PFO, Tetrology of Fallot, stenosis and a large Left Diaphragmatic Hernia. She has normal vision and hearing -- poor p.o. feeder, so she required an ng tube. Cranial ultrasound was normal with no masses.

We brought Chloe home on August 17, 2009, with hospice care for 6 months. Then Chloe was discharged because she was doing so well! "Praise the Lord!"

As of today, November 2012, Chloe weighs 17 pounds and is 30 inches long. She is a living, thriving bundle of heavenly smiles!! She has the sweetest spirit, and all who meet her fall instantly in love with her!

Chloe has had several surgeries; one for her cleft lip at 13 months and for a g-tube , nissen fundoplication, and diaphragmatic hernia repair at 9 months.

We don`t know what the future holds, only God knows, and he`s still working on her!!! She is definitely "surviving"!

JUST IMAGINE*** IF WE HAD LISTENED TO THOSE DOCTORS AND NOT TO OUR HEARTS! SHE WOULD NOT BE HERE TODAY TO TELL HER STORY!

NOT THE END**

Chloe's Mom

Kaitlyn ~ Trisomy 13

When Kaitlyn was born, the doctor who delivered her didn't suspect anything wrong. The only thing the doctor was concerned about was that it took Kaitlyn a moment or so to take her first breath. Sure she was a bit smaller than expected, but she was full term so nothing was expected to be wrong. When she was taken to the nursery to be examined, they noticed a few differences. The nursing staff suggested we take her to a Children's hospital for a full evaluation. Because I was familiar with the quality of care, we decided to have Loma Linda University Children's Hospital check her out.

Once at Loma Linda, she was taken to the NICU. They suspected something was different, but weren't saying much. After a series of tests were performed, they concluded that Kaitlyn was diagnosed with trisomy 13. Learning she was diagnosed with T-13 was not the hardest thing to accept. In fact, we did not know WHAT trisomy 13 was, so learning of her diagnosis meant very little to us. In contrast, hearing the NICU doctor tell us that she was born with a fatal syndrome and that she would not survive longer than a few days was the bigger blow to take.

The doctors at the hospital were quick to share all the statistics they knew were attributed to the syndrome, but we just couldn't get past the fact that Kaitlyn would not survive past a few days—if we were lucky. The hospital set up a meeting with the geneticist. When we met, the geneticist didn't offer anything new. In fact, she made sure we understood that Kaitlyn's syndrome was not compatible with life. We were set up with a Hospice program through my insurance, and four days later we took Kaitlyn home, holding on to every breath she took, not knowing when or where would be her last.

At home, we held her and celebrated her arrival. At first it was a day-to-day milestone, which then turned into a month-to-month achievement. After three months, the hospice team suggested we not use up all our benefits if Kaitlyn was not showing signs of dying. This was the first positive sign that maybe Kaitlyn would somehow be with us longer than a few months.

Kaitlyn did not show signs of distress. By now, we had done a little bit of research and understood that the syndrome brought along developmental issues we would need to be aware of and work with. The biggest medical problem we experienced at first were seizures, which were easily controlled by meds.

Having left Loma Linda University's Children's Hospital with a bad taste in our mouth, we sought a second opinion from Children's Hospital San Diego, and to our amazement, the geneticist there told us she saw no signs of Kaitlyn's life being shortened by the syndrome. She no longer was "incompatible with life!" Again, we were very aware of what her developmental challenges were, and what that would mean for the future, but at least none of them would be life-threatening.

Kaitlyn has been through quite a few challenges and has had few life-saving operations. None of these have been attributed to Trisomy 13. Eight years later, she appears to be as healthy as she will ever be. She will probably never walk, is blind and hearing impaired, and her motor skills are severely challenged. Kaitlyn does communicate with us in her unique way. The one thing Kaitlyn has never stopped being is the miracle child God gave us. Kaitlyn has taught us a lot about endurance. A lot about not giving up. Kaitlyn does not have a voice, so she has taught us to fight for her. Kaitlyn has amazed the doctors and specialists that have treated her. She has intrigued them with her unique combination of medical differences. Kaitlyn is definitely a gift to us. We will continue to cherish all the time we share together.

Kaitlyn's Mom

Isabel was born on December 14, 2010 with Trisomy 13 Mosaicism. Only 20% of her cells have an extra chromosome. She is a happy, loving, and sweet little 15 month old today. She does have a trach but recently with her Speaking Valve on she has begun to say “MAMA” and “DADA”. Being the youngest of six children she has a lot of stimulation to help her achieve her milestones. She receives Physical, Occupational and Speech Therapy. Isabel has brought such joy and happiness to our family. I believe there is no greater joy in the world than to be a special needs parent. I have seen my older children love her, cry for her and defend her. It is amazing to watch my children completely change their lives to adapt to their sister’s needs. When Isabel was first diagnosed there was not a lot of information available about mosaicism and my doctors were honest and told me they just didn’t know how this would affect her. I began to search the internet and came upon the www.livingwithtrisomy13.org website. What an inspiration to see all these children thriving and enjoying life and the parents that totally embraced them. I then met ThereseAnn and formed a wonderful friendship with her. She is in my eyes the “Trisomy Guru”. She's full of knowledge and a has a spirit unlike any other. When the opportunity arouse to take over LWT13 I felt that I had finally found my place in life. I have since been able to turn LWT13 into a Non-Profit Organization. I hope to continue on with ThereseAnn’s work and be able to help more families dealing with this diagnosis. The people that I have met through this journey are now my Trisomy Family and I am excited to watch my family grow.

Isabel's Mom

Our story starts off much the same as many Trisomy 18 families. We got the diagnosis at 15 weeks (via amnio), and my pregnancy was filled with much grief and tears because all the information I found online was so grim. I didn't believe any children with T-18 survived past the first year.

But this is where our story becomes vastly different than the usual. We were so very blessed to have a perinatologist who respected our decision to carry to term and never once pressured us or made us feel like we needed to terminate. We had an OB who is the father of a child with special needs, so he understood how precious these children are and was willing to be right with us every step of the way to fight for Joey as hard as we were. We have a pediatrician who is literally in my opinion heaven sent. Her mission and passion is to care for children with special needs and to give them every chance to succeed. She understands that these children are precious gifts and she is willing to listen to me and understand that I know my daughter better than anyone and I decide when and how hard to fight for her.

On June 16, 2009 I went to the OB and was told I had developed Pre-eclampsia, so we needed to have Joey that night. After being admitted and started on Pitocin, Joey started having decelerated heart rate (D-cels). Pitocin was stopped and I changed positions and her heart rate came back up. Pitocin was started again and D-cels happened sooner this time. My OB came in and told me that it was time to talk about C-section. I said "let's try one more round of pitocin", his response was "I don't think she'll survive another round". So the decision was made C-section it was. We were scheduled the next day for surgery.

Joey's delivery was almost as complicated as her time in utero, she was in the upper part of the uterus and refused to come out (don't know where she get's her stubbornness from). After much pulling and pushing on my belly she finally arrived. She was having a bit of breathing difficulty so her pediatrician asked if she could give Joey a bit of blow-by O2, to which my response was "do whatever you need to do". Her first cry was very small and weak, but still the most beautiful thing I've ever heard.

I think Joey decided she was going to stick around a while and see what all the fuss was about, 6 days after she was born she came home from the hospital weighing 3 lbs 9 oz (she was such a little peanut).

Still armed with incomplete info, I believed at best we would have a year with Joey, so her life was measured in minutes and hours in the beginning. We weren't sure if she had vision or hearing so we held her constantly, because we wanted her to know she was loved and treasured.

Joey was about a month and a half when I got onto Facebook and all of a sudden there were so many kids out there surviving and more importantly THRIVING well past their first year with full T-18. My outlook changed completely in that moment.

Joey's life is now measured in months and years, but we never lose sight of the fact that tomorrow for us is not a given, it is a gift. And no matter what, we will always have yesterday. As far as today is concerned, well we're here in it, so we spend as much of it loving and playing with Joey as much as possible.

Joey is currently 2 years and 10 months old. She will be 3 years old on June 17. She is remarkably healthy, but we have had a few scares, but again we have been very blessed to have some amazing doctors in our corner.

Joey is a loving, happy, child who's favorite past time is either snuggling or watching TV. Her favorite movies are Tangled (I think Joey is obsessed with the hair) and Spice World. We think she needs to be the next Spice Girl and her "Girl Power" name is Silly Trisomy Spice.

If Joey could speak I think she would want the world to know what Trisomy 18 really looks like, it's not the awful things you read, it can be a face of light, love and hope. What more can anyone ask for??

Who knows, maybe one day she will be able to tell you these things herself!!

Joey's Mom (Lisa)

Natalia has full trisomy 13. She has a delightful spirit of Joy even though she has experienced and triumphed over many of the trisomy medical issues. She understands and she makes choices on what she wants and doesn't want to do. She is an easy child to care for although she does have many needs. She is 11 yrs. old, (in the 6th grade special day class) Caring for Natalia is much like caring for a child who is from 12 months to 18 months. She cracks us up everyday. She walks with help hand in hand outside the home, but within the home she travels on her own. She loves anything musical on TV and loves sneaking off to any available sink and sneaking a drink by leaning over and slurping from the faucet. She can shake her head NO and sign YES and certainly lets us know what she wants. I am so thankful I have this very special soul in our lives to bless our family. We are better for having loved this very special Gift from Heaven.

Natalia's Mom

Castan ~ Mosaic Triploidy ~ 6 months old

My son has Mosaic Triploidy. There are only around 50 recorded cases ever in the world. On November 1, 2011, I took a pregnancy test because I had been having symptoms for a few weeks. My husband was adamant that I was not pregnant because I had the Mirena IUD placed in 2009 and it's supposed to last for 5 years. The first, as well as second, test showed positive immediately. I cried all that day because I knew we just could not afford another child. Josh said not to believe it until we had an ultrasound showing the baby. We went to the doctor, 4 times before we could see Castan. Everything went well, other than he always hid from the heart doppler.

AT 15 weeks, I couldn't wait any longer to find out what we were having so we went to get a 3D/4D ultrasound done. We were ecstatic to be having a boy, having 3 girls already and losing a son.

At 19 weeks, we went to my midwife for an anatomy scan. There we discovered that Castan was not growing correctly. His head was only 2 weeks behind, but his chest and abdomen were about 6 weeks behind. I immediately started crying because I knew something was wrong. Josh tried to stay positive and told me I was just paranoid. Sue, my midwife, ordered that we go see the perinatologist. We went there that Friday. He insisted on an amniocentisis. He was pretty sure our baby had Down's Syndrome. I wasn't sure if I wanted an amnio, because I was scared of the results. He pressured us, so we decided to get it done.

Two weeks later, (at 21 weeks) he called us to his office. He told us that Castan had full blown Triploidy and would not live. He said I was too far along to "terminate the pregnancy", even if I wanted to. We were devastated. I didn't like how he delivered the news so I got a second opinion where the doctor informed us he actually has the mosaic form of Triploidy, and had a chance to live but would most likely be still born. This was was still not the news I wanted. I started researching everything I could get my hands on. I wanted to know everything about DTM. It is such a rare disorder that there is very little information out there. I joined a group of family members of babies with DTM. I started a facebook page to show that we were not going to give up on him. (http://www.facebook.com/BelieveInCastan)

My water broke at 29 weeks, where we were told that Castan only had a 10% chance to live because his lungs were not going to be developed due to my water breaking and him being so extremely tiny. On April 27, Castan was born weighing 1 lb 12 oz and was 14 inches long. From day one he has been a fighter.

A few days after he was born, his doctor told me he didn't expect him to live. I didn't understand because all of his tests had shown he was doing amazingly. The doctor said he wouldn't live because he was "so small." I told him I chose to believe differently. The doctor tried to quote the statistics of full blown Triploidy to me. Full blown is incompatible with life, and has the longest recorded case living to 10.5 months. Every statistic he quoted me, I corrected. I did not want this doctor giving up on my son, just because he didn't understand his disorder.

Castan will be 6 months next Saturday. He is 5lbs 4 oz and 19.5 inches long. Every day he amazes me. The doctors told me he would have extremely low muscle tone and would develop way slower than "normal" babies. He started rolling over about a week or so after we got home, which they said he wouldn't do until 7-8 months. He smiles. He coos. He does everything a normal baby can, except cry. I wanted to let anyone who has a diagnosis of any disorder know that there's hope regardless of what the doctors say. Anyone who has this diagnosis can contact me, or follow Castan's page.

Castan's Mom

~ Caleb ~ Full Trisomy 18

We were incredibly blessed to have our son, Caleb Nathaniel, for 2 1/2 amazing years. The days were filled with so much love, joy, smiles, fears and decisions that were beyond comprehension. I want other families to know our story of hope in order for them to make informed decisions for what is best for their family. Caleb's life was not measured by the time he was with us, his death does not define him. His amazing life is what he will be remembered by. How he taught the world to smile. He had an incredible team of doctors that treated him with respect, dignity and an abundant amount of love. He taught them that children with trisomy 18 can have a beautiful life. It isn't without it's challenges with illnesses, surgeries, etc. But by his doctors treating his symptoms and not focusing on his diagnosis, we were able to give him the best quality of life possible. Many people think that our babies are broken because their bodies are medically fragile. But to me and my family, Caleb was more perfect than most people could ever imagine being. His soul and spirit was as pure as it comes. He had the sweetest spirit, always happy, always smiling, never complaining, never hating. He only wanted to be loved. That I think is what we all wish for. Our bodies may be healthier but our spirits are far from perfect. Caleb was my hero. And his journey continues by helping other families that need help emotionally, spiritually, medically but most of all knowing they aren't alone.

Some of the things we remember about Caleb: he had an infectious smile that could light up any room and brighten even the darkest of days. He never complained about anything, he just loved life and everyone that surrounded him. He moved and grooved like Stevie Wonder. He smiled with a curled up lip like Elvis. He had this enormous belly laugh like Santa...the kind that takes your breath away. He smiled at the simplest things, the ceiling fan, the clouds passing by the window, his brothers making funny noises and the voices of the people he loved. But most of all he taught us how to love, live and laugh. He has left forever footprints on our hearts. Love you our sweet lil' Mouse.

To learn more about Caleb's amazing journey, please visit :
Caleb's Blog: http://calebsjourneyfromgod.blogspot.com/
Caleb's YouTube Channel: http://www.youtube.com/user/caleb0320/feed

Caleb's Mom ~ Jeannette

Ivan entered the world at exactly 8:27 am on April 16th, 1997. He was born with the cord around his neck and it left red marks that we inquired about. We were told the cord had been around, but that it was not a big deal. I had known before Ivan was born that something was wrong and went to my family doctor. She said it was nothing and refused to do any tests. She said he was just big. Within a couple months, I started taking Ivan back to the doctor. He was having feeding issues and could not swallow well or latch. The doctors answer was to switch to formula. We had to cut holes in the nipples and prop Ivan up, then he had bad colic from the gas, but at least he was feeding. By 5 months, it was apparent that something was very wrong and I seemed to be in the doctors office every other week. He did not gain weight, but dropped. He could not sit up, coo, roll over or have a bowel movement without pumping his legs. He was vegetative, and it was scary and frustrating with the doctor telling me I was paranoid and neurotic...that the issues were in my mind. I was a new mom and should enjoy the experience and not stress so much. However, since I had an older child, I knew something was seriously wrong. At 8 months, I went armed with a friend and marched into the doctor's office demanding she do something, listing everything and pleading for something to be done. She finally sent us to a pediatrician that ordered extensive and invasive tests, but at least he did something. We waited for the test results and when I got the call it was devastating, but not a surprise. Ivan had brain damage caused by the cord around the neck which is a cerebral atrophy and a type of palsy. (We now know that a lot of Trisomy babies present with the cord around the neck.) He said that most likely Ivan would be behind in all things and likely would not walk or talk until at least 4 or 5, and the fact that he had survived thus far was a testament to how strong we all were. So I made the appointment, took my friend and went to see the family doctor. I walked into her office and was bombarded with wheel chairs, long term care, and the list went on and I left the office devastated. I started calling any facility I could to find help and got in touch with early intervention. They got me in touch with all the other therapies. Within 2 weeks, I had everything in place. Then the hard work began by exercising muscles that did not respond. We now know this is stuff the doctor should have done. We switched family doctors, as ours was no help. Ivan had bouts of pneumonia and bronchitis starting at 5 months old. At 2, we were sent to the Glenrose Rehabilitation hospital. The wait list was long and it took another year to get in. Ivan was now 34 months old. They did extensive testing. They even provided us with the info that Ivan had had to be resusitated at birth, which was the first time we had heard it. (It does not exist in the records at our hospital.) They diagnosed Ivan with global developmental disorder and sent us home. They also made a request for genetic testing and again we waited to get in. Finally at 5, we had the testing done. They suggested that Ivan's father and I be tested as well, which we were. Ivan's dad carries the gene, although it has little effect on him. Ivan's diagnosis is a chromosome abnormality causing partial trisomy 7. His karyotype is 46,XY,der(6)ins(6;7)q21;q34q31.2)pat. At the time, this meant nothing that we did not already know, that he would need help. We went on treating the symptoms as they came up.

Ivan has absent seizure disorder, better known as petit mals. This type of epilepsy fires throughout the brain and Ivan had as many as 50 seizures a day. Now with medication he has no active seizures, but it is still there. He wears leg braces and uses a walker, he has had several leg surgeries. We cut his food, his speech is behind, he has low growth hormone...the list is endless. One of the most interesting things is that Ivan sees with both eyes but only one at a time. He switches fixation. This was done by the brain rerouting pathways. So if he looks to the left he sees with the left eye and to the right the right eye, and straight on we don't know. He has scoliosis, and he has a leaf missing in the left ventricle of his heart.

Though the years have been a struggle with little to no knowledge, we have managed to deal with the problems as they came up. He has grown and thrived, and he bowls on the special olympics team. He loves the movie Cars, is a music nut, and he bribes for ice cream when getting needles.

My motto was very simple...I don't take no for an answer and if you won't open the door, then I am beating down the window. lol

My hope is to help provide some answers for other people, and the Trisomy 18 mommies site has helped me to help others that are now going through the struggles that we went through.

I would not change a thing. Without Ivan and the hard road we traveled, I would not be the person I am today. My son has been a blessing and taught me so much about acceptance and understanding. The love I have for this child is beyond anything I thought I could feel. It overwhelms you in it's depth. No matter what the future brings, we will take it one day at a time, one step at a time and as Dory says on finding Nemo, "just keep swimming".


Mary Kako

~Bethany~

Bethany was born on August 8, 1979, and was instantly diagnosed as a trisomy child, having several physical characteristics showing an abnormal genetic makeup. Doctors did not expect her to live past a few months, and she was given the label “failure to thrive.” At the age of two months her genetic testing came back as trisomy 14. Bethany was a very sick baby, with hospitalizations averaging once a month. In spite of our best efforts to care for her and feed her well, she grew only 4 pounds that first year. It was a very hard time. We were exhausted, and Bethany’s smiles were rare rewards. Bethany grew so slowly. She learned to sit with the aid of heavy leg casts at 18 months, and took her first step on her 3rd birthday. When Bethany was 5, our geneticist called with news. Better tests now showed partial trisomy 9p, which came with a much better prognosis.

In 1989 Bethany turned 10, and we discovered the SOFT organization. We went to our very first conference that summer in San Francisco, and it was an eye-opener. We learned so much, but most of all we found that we were not alone! We were blessed with a huge family that we had never known, and Bethany found best friends.

Three years ago another geneticist discovered a second syndrome—partial monosomy 1q. So our kiddo is quite unique!

At almost 33 years of age, Bethany is quite healthy. She is 4’ 10” tall (yippee!-- tall enough for the big rides at Cedar Point) and weighs around 145. Her mental age is that of a 2 or 3-year-old child. She makes some sounds, but cannot speak. Bethany’s strengths are that she can walk and is very outgoing. She is happy to “talk” to anyone we meet with a variety of noises & gestures. She is known for her happy smiles and great attitude. Bethany loves her family including her younger sister Sarah, and her 3-year-old nephew Nathan. Her favorite things are shopping, movies, church activities, music and being with friends. She adores traveling, and can hardly wait for the next SOFT Conference—she is already packed and excited to see her friends in St. Louis in just 2 weeks!

Bethany's Mom

September 10, 2010 was the happiest day of our lives; that is when our sweet baby girl, Elizabeth Anne Trompler, entered into this world. She looked beautiful and perfect to us; little did we know the challenges that would be facing us. It is only through our faith in God that we have been able to make it through this journey. He is the One that has held my shattered heart together.

Not long after delivery, the doctor warned us of some abnormalities and deficiencies. Just some of these worries included an underdeveloped brain (which caused many other symptoms such as the inability to suck and swallow, make voluntary movements, breathing issues, etc), multiple holes in her heart, enlarged kidneys, clenched fists, rocker heels, gastrointestinal problems, and blind.

Elizabeth never opened her eyes, and the doctors believe they never developed. You would never know though by just looking at her sweet, sweet face. After days of testing and observation, we finally received Elizabeth’s diagnosis, full Trisomy 13. Most babies that are diagnosed with this disorder do not make it to birth. Those that do make it to birth do not usually make it past one year old. Elizabeth lived 24 days.

At first, I refused to believe my baby girl’s condition was terminal. Every minute I was not spending cuddling my sweet Elizabeth, I was researching Trisomy 13. At that time, I could not find anything encouraging online, and I did not have all the Trisomy family contacts and support system I have now.

Through a family member, I did have one contact, but in my stubborn mindset, I did not use her as a resource. I was an overwhelmed, first time mommy, not wanting to hear the realities. I encourage all families facing such a diagnosis as Trisomy 13, or a related illness, to reach out and find a Trisomy support system.

I remember sitting in the NICU, holding Elizabeth against my chest, and crying. Her little body would rise and fall against mine, as the tears flowed down my face and I gasped for air. I remember my tears splashing against her sweet face. I remember her soft skin under my lips as I covered her face in kisses. I remember how she felt in my arms. I remember her sweet baby smell. I remember how she had my pout. I remember how she defied the odds and sucked on her passy. I remember how she instantly calmed down in her daddy’s arms. She loved when he rubbed his whiskers against her face. I remember how she stretched with a purpose, despite being told her movements were involuntary. I remember it all. I remember.

After nine days in the hospital, we were finally sent home on hospice care. It was so frightening leaving the safety nets of the hospital and to be expected to run Elizabeth’s medical equipment at home, but we did it. I firmly believe God will never give you more than you can handle. He would not allow us to be sent home if He knew I would not be able to care for her. I am so thankful we had those precious days at home with our daughter. This gave us the time to make better memories outside of the hospital environment.

While we were home, we were blessed to receive services from “Now I Lay Me Down to Sleep”, which is an organization that does complimentary remembrance photography for families with terminally ill babies or babies born sleeping. Our NILMDTS photographer spent over four hours in our home capturing the most perfect moments with our sweet angel. We cherish our photos, because this is all we have left by which to remember our sweet baby girl. We no longer have our daughter to hold in our arms, but we will never forget her beauty, and the love and grace she brought into our lives, when we look at her pictures. Thank you NILMDTS for this precious and perfect gift.

Last year, I started a fundraiser in Elizabeth’s honor, named The Elizabeth Experience. As part of this fundraiser, we held 2 events, and raised approximately $2,000 for Now I Lay Me Down to Sleep as a small token of our appreciation. We would love to make this an annual event to continue honoring our daughter, showing our appreciation to NILMDTS, and helping ensure other families continue to receive the blessings of their services. Last year’s event page (via Facebook) was “The 2011 Elizabeth Experience”, but I am in the process of creating a new Facebook page that will be good for all future years, simply titled “The Elizabeth Experience”. Please check out our page and help contribute to our event.

We still miss our Elizabeth Anne, and always will. She will forever have a grasp on our hearts. We are thankful we had our 24 days with our daughter, and we would never trade those for the world.

If you would like to follow Elizabeth’s story and my journaling from her diagnosis to her death and life beyond, please visit her Caring Bridge page at www.caringbridge.org/visit/elizabethtrompler.

Natasha (Elizabeth's Mom)

Mia ~ Full Trisomy 13 ~ 5 months old

During my pregnancy, we had absolutely no idea anything was wrong. Everything progressed normally. All the routine ultrasounds and checkups were fine. Even during labor, everything was fine. It wasn't until right after Mia was born, that we started noticing something wasn't right. As soon as they laid her on my chest, I noticed she had extra digits. She was also having breathing issues, so they whisked her away to get that stabilized. It was so hard to not be able to hold my baby that I had just given birth to and also hard to not know if she was OK. They kept her under the hood oxygen for 12 hours. Once everything seemed OK, we were allowed to take her back to our room. She needed help sucking, so we worked on teaching her with a pacifier. The hospital continued monitoring her for a few days, and after being there for five days they detected a heart murmur. They decided to send her to the Children's Hospital in Peoria. It was such a scary time to not know what was wrong. They did several tests on her and prepared us for the worst. Lee and I were so emotionally drained. A week after she was born, we got the results of her chromosome test. As soon as the doctor walked in, we knew it wasn't good news. They told us she had full Trisomy 13 and would probably only live a month. It was the worst news of my life. This beautiful little baby that I had so lovingly carried for nine months was only going to be with us a short time. The geneticist warned us not to look up information online because we would find skewed information about children living longer. We took her home and basically thought we were going to watch her die. We went home and were surprised at how well she did for us. She ate and grew like a regular baby. We definitely always made the most of it by taking tons of pictures and videos of our beautiful little baby. Eventually I gave into my curiosity and looked up more information. I found a wonderful support group of parents raising children with Trisomy 13. These parents were advocates for their children in a world that doesn't always give these children much of a chance. I realized there was hope for Mia. And from then on I decided we were going to do everything possible to give her the best chance at living. We had to be her voice. We started making appointments with specialists in order to understand Mia's system as best we could. Unfortunately Mia started getting sick with a respiratory infection before we had a chance to go to many appointments we made. She was admitted to the hospital to treat it. Overall, we've been here almost six weeks. She's had her up and downs, but we feel she's making progress. She has many great doctors and nurses taking care of her. They don't treat her any differently based on her Trisomy and do everything they can to treat her issues. She is currently on the ventilator, and we're working hard to get her strong enough to get off it. We were able go get her off before, but she wasn't quite ready and ended up back on the vent. Hopefully she can be strong enough to breathe on her own soon. We know we still have a lot to deal with on our journey ahead, but we strongly believe our daughter is a fighter and will be able to pull through. Thank you so much for the support, thoughts, and prayers. Through all of this, we've been incredibly blessed to have so many wonderful people in our lives.

Mia's Mom

Taylor

I'm a single mom of 4 children, and I lost their father 5 months before Taylor was born. I had 9 u/s and the only thing we saw was hydronephrosis of the kidneys. When he was born he weighed 7 lbs 15 ozs and was 20 inches long. Taylor was born by c-section . After he was born, Taylor couldn't keep his O2 sats up. He was in the 70's and was put in a tent . The peds doctor then came to talk to me. They where going to ship him to a bigger hospital. There was a Genecist there doing a clinics and said Taylor has the low set ears and chin was and he had really small shoulders, long body and his testicle was undesended. Well...they thought he looked like all of my other kids, but we got his trisomy diagnosis at the 6 week check-up . My son has a very rare trisomy, and back in 2000 there where only less then two hundred cases. I've meet only one other family and have only met two doctors that have seen trisomy 8 mosaic. He didn't suck to good when being fed, but he did keep up until he was 3 months old, which is when we found out he has reflux. We spent a lot of time in the hospital with the reflux of the stomach and to watch the kidneys. Taylor's weight was very low, and he wasn't on the chart for years. He got glasses at 16 months because he can't see close up and has a lazy eye. Taylor started walking at 22 months and had surgery on his testicle and hernia at 17 months old. Also, his kidneys are being watched, as they went to a 4 which is bad for reflux of the kidneys. Right now...he is at a 2, so we don't have to go back. We had a IQ done 4 years ago and he is at 73, but he is over-all doing very well. Taylor can read at a first grade, does love math and counting money. He also has had 4 sets of tubes in his ears. Taylor also loves WII and wrestling. He over-all is very lovable child. Taylor will hopefully be getting braces this summer, and they will also be putting rods in to push the chin out...as he has a big underbite. He is in 4th grade, and is mostly in spec ed classes. Taylor has 2 brothers Aaron,25 and Rj is 19 and has a sister Ashleigh,21 and Taylor will be 12 in June. He is very speech delayed,but does use some signs and has a data box which he goes to with what he wants or what he is trying to tell us. However, 99% of the time I can understand him. Recently, he got an iPad 2. Also, Taylor is tongue tied which we are looking into it being clipped. For the last 6 years, Taylor has gone to a special needs camp for special need children...he goes for 8 weeks and stays there. Currently, Taylor weighs 116 lbs and his height is 5'3".

My daughter Kate is 23 years old. She has Full Trisomy 18. Her journey has been long, (thank the lord) but sometimes painful.

When I had Kate she had 3 holes in her heart. Since then she only has a VSD left. Doctors didn’t realize that she also had another problem until her cardiologist saw signs of a chromosome problem. During Kate's first year of life, she was in and out of the hospital. Also with the same outcome from the doctors. Take her home, we can’t do anything for her, prepare yourself for her death. The last time Kate was in the hospital, we took her home and had a priest come to the house and give her last rites. That was 22 years ago. Kate hasn’t been in the hospital since.

In the last 22 years Kate has gone to school, weighs in at 28 lbs, is 38 inches long. She can crawl around the whole house, feed herself with her spoon, and can drink by herself with a sippy cup. Kate was walking with a walker for years until her right foot started to turn in because of the tendons in her foot. Her orthopedic doctor wanted to fix the foot. Her cardiologist didn’t know if she would or could pull through the operation so would not give the ok.

Kate has scoliosis, but the spine stopped moving and she lives with it.

Kate has a smile on her face every day! Loves boys and is the joy of my life. She graduated High school with her brother last year.

I’m having a problem now with the after care of Kate.
She’s tiny and the programs for adults after school are not prepared for someone like Kate. They don’t want to take responsibility for someone so small in an adult environment. The safety of Kate is the issue.

I’ve gone through ups and downs throughout the years whenever she has had to have physicals for school or after school programs.

Still at 23 years old the doctors always have to tell you the bad news that she will die sooner or later. You think back to when she was born and live it all over again. It’s heartbreaking.

I know my Kate will die! BUT so will I and so will all my other children. I have 3 other healthy children after I had Kate. They love their (little) sister more than anything in the world.

The journey has been something that I would never change. Kate has made me a better person, friend, mom, daughter, sister etc. She has taught me that what you think is a big deal is not as long as you have a smile on your face. Kate has a smile on her face every day and when I see that smile when I get home from work every day, the stresses of the day seem not so stressful anymore.

I am always willing to talk about my journey if anyone should ever want to ask me anything.

Jill C Pickett (Kate's Mom)

Lance was born 4/27/06 and has full trisomy 18. He is a true joy. He goes to school, plays catch, loves his family and friends, loves going on road trips, loves dogs, bowls, swims, walks in a gait trainer, and has the most gentle, loving spirit. He smiles almost all of the time. My favorite thing that Lance does is pull me in for a kiss and push away, then will pull me back about ten times. He loves kisses on his chin. He gives the best hugs. He giggles and we get in laughing fits feeding off of each other when he does that awesome, deep belly laugh. I love Lance so much and he has brought immense joy to me and touches so many people's lives. I am so glad that I did not listen to doctors' advice to give up on him. Lance has had no surgeries and gets ill no more than the average child. He has an unrepaired heart condition that is stable. Lance is thriving and reaching new milestones each day.

Lance's Mom

Elijah was born January 23, 2010 via c-section. He was 7lbs 4 oz 19" long. His APGAR scores were normal. No one noticed anything different about him. After bringing him home he finally opened his eyes at 5 days old. I noticed he looked a little different from my older two children. He looked like he had Down Syndrome! My husband also thought this. I searched the internet and looked through all the pictures I could find... the only thing about Elijah resembling features of Down Syndrome was his eyes. I mentioned this to our pediatician but they brushed off my concerns. "I don't think so" they said. I contacted VCU/MCV Hospital and scheduled an appointment with the Genticists. It would be more then two months before we could see them.

At 2 1/2 months old I noticed Elijah's feedings decreased to an ounce per feeding. He wasn't growing either. I went to the Pediatrician on a Friday and told them he was only eating an ounce per feeding for the last few days. They said "keep chart of it over the weekend and call us next week". That wasn't going to work for me. I called VCU Genetics and told the Coordinator that I would be going to their ER and requesting a Genetic Consult. That evening Elijah was admitted into the Hospital and diagnosed with Down Syndrome, either Translocation or Isochromosome, they could not be sure at the time. He had tons of testing with only minor health issues.

Two years later Elijah had a bone Marrow biopsy done. After the results came back he was ok, he didn't have any serious issues. They also did a Chromosome Analysis, it indicated that he did not have a translocation but an Isochromosome, however in his first cell line he had the Mosaic form of Down Syndrome, "Partial Down Syndrome" and in his second cell line he also has Mosaic Trisomy 14. Elijah is the only known case of THESE two particular coexisting Chromosome disorders.

Individuals who are "Mosaic" have two cell lines. He does NOT have true Trisomy. He's even more Unique because in both of his cell lines he has an Isochromosome. An isochromosome is a chromosome that has lost one of its arms and replaced it with an exact copy of the other arm (on the same chromosome) so a normal 21st chromosome, and the second 21st chromosome with the extra chromosome material attached, no third chromosome present. His 14 chromosome in the second cell line is the same. He only has 46 chromosomes. He doesn't have a true trisomy but it is still referred to as Trisomy. Its rare.

IT HIT ME, If Elijah was ONLY born with Mosaic Trisomy 14 their would not have been any resources for me. No support, nothing. Mosaic Trisomy 14 is very rare, there are only about 28 cases documented in Medical Journals.

Elijah is the reason we created ThisAbility. http://thisability.org/home This organization was created so that ALL families with children with ANY type of Special Need WOULD have Support, Resouces and Information. A place that doesn't only target one type of disability but ALL.

Elijah is almost 3 now and enjoying life like most 2 year olds. He's really not much different then a typical 2 year old. He is happy, stubborn, gets into everything, loves music, football and chocolate milk. He is a blessing. Each days he shows me just how special he is.


Elijah's Mom

I was induced on 8/24/1988. I was 33 weeks and we didn't know that there was a problem with Tiffany. She is my middle child. I did have high blood pressure with the pregnancy. She was born emergency c-section and weighed 3lb 5oz, 15 1/2 in. I was out of it for 3 days so my husband was with her. She was in the NICU for 2 weeks. Then she was moved to a unit called step down. She could breath on her own. Two weeks after birth, we were given the Trisomy 18 diagnosis. We were told to take her home and enjoy the time we had. She stayed in the hospital for a month and a half and went home weighing 4lb 11oz. Before going home, she had to learn how to suck. I went every day and she finally learned with me being there to help. They wanted to repair her VSD, I waited and got a second opinion. We chose not to repair it because it was closing by itself. At about January of 1989, we enrolled her in a home care program called St Marys Children Hospital. It is in Queens, NY. She gets her therapy at home OT, PT, and Speech. A nurse comes to check her vitals every 2 weeks, more if needed. Tiffany has gone on many family vacations, and she loves to fly. She had a Make A Wish when she was 10, and we had a wonderful time at Give Kids the World. Tiffany use to ride a Rifton Tricycle, but due to her scoliosis she doesn't too much anymore. Tiffany graduated in 2009 with her high school diploma and I cried, of course. At the age of 18, she developed seizures. They are not too bad, they last only 30 seconds, but she holds her breath and her lips turn grey. She is now on Keppra and Vimpat, and it seems to work. I feel honored to have been chosen to take care of my little angel that God has loaned to me. She has blessed our family with such a sweet spirit and peace. The road was rough in the beginning, but she has taught me a lot on this journey. Thank you God and God Bless all the Trisomy Families.

Tiffany's Mom

Lila ~ Full Trisomy 18 ~ almost 6 months old

After an emergency C-Section on September 12, my tiny but perfect daughter Lila Claire was born into this world. She was 4 pounds 9 ounces 17 inches long. She didn't cry right away, she had trouble breathing and her apgar scores were low. Immediately the doctors suspected something was wrong and ordered some tests. Since my husband and I weren't considered to be high risk for anything, we had opted out of all prenatal testing.

When Lila was 6 days old we received the terrifying news that she has Trisomy 18. If you've never heard of it, it can be horrifying to google it. We were given information that stated that our beautiful baby was "incompatible with life". We were told that most of these precious babies would die by 22 weeks gestation. If they didn't, it was highly likely that they wouldn't live past 15 days old. Most were too weak to survive the birthing process. We were told there was no hope, to enjoy her while we have her and to consider hospice. We were told that there was no way they would do the life saving heart surgery that she needed, and if we did find someone to do it she would only suffer until she ultimately died as a result of the surgery.

Sean and I decided immediately that we wouldn't be feeling sorry for ourselves. We want baby Lila to have the most normal life possible. We fought to get her transferred to a hospital that would consider her as an individual, not her diagnosis. We had extensive testing done to see how severe her heart defect is and if she would in fact be a good surgical candidate. We got in touch with physical therapy, occupational therapy and speech therapy to help Lila to learn to use her muscles properly and to learn to eat.

We're beating the odds so to speak every day of Lila's life. She is a complete miracle. She is proof that sometimes you just don't know how far someone can go, despite how poor the outlook may appear. Lila is currently 24 weeks old. 12 weeks ago she had her life changing heart surgery. She is currently thriving. She is growing, learning and beginning to hit her milestones. We are grateful for every single day we get as a family.

Lila and her parents were recently featured in a local newscast about their Trisomy journey. Here is the link http://www.wwmt.com/shared/newsroom/top-stories/stories/wwmt_special-report-witness-miracle-7996.shtml

Lila's Mom