This blog is dedicated to my friend’s sister who has written about her son Emerson, born with Trisomy 18. This condition is caused when a baby develops three sets of chromosome 18, instead of the two that humans typically have.
To quote the Chromosome 18 Registry & Research Society, “Babies with Trisomy 18 typically have complex medical problems. Birth defects are very common in these babies. They may have defects of the heart, brain, spinal cord, and other internal organs. Cleft lips and palates are also more common in babies with Trisomy 18. They may have hand and foot anomalies. Babies with Trisomy 18 may have difficulty regulating their breathing and temperature. They may also be unable to feed properly.
Because of the large number of potential medical problems, babies with Trisomy 18 are usually considered ‘medically fragile.’ Most children with Trisomy 18 die before or shortly after birth. Five to ten percent of babies with Trisomy 18 live past their first birthday.”
Here is Emerson’s story, the story of a little boy that fights harder than anyone I have ever met.
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.