Why Do I Even Know What 1P36 Deletion Syndrome Is?

              I never thought we would be traveling down this path. I had severe Pre-Eclampsia at 28 weeks and had my baby weighing only 1lb 11.5ozs and 13 inches long. She was on a feeding tube, oxygen and heart monitor. She stayed in the NICU almost 9 months. She had Retinopathy of Prematurity (where her retinas were detaching from her eyeball) and required laser eye surgery. She also had five holes in her heart- PDA, ASD and three muscular VSDs. We had to have two of the holes (PDA and ASD) closed, luckily they were able to close them through a catherization instead of open heart. She also had feeding troubles after being on oxygen for so long, so the last of her surgeries was getting a g-tube placed in her stomach.

              She came home at eight and a half months old still on a nasal cannula and heart monitor that beeped every time she kicked her feet. She also still had the development of a newborn since she had been lying in a crib most of her life. For the first few months of having her home, we had a home nurse come to the house daily to help us out. I was testing the day time nurses to see if I could seek employment again whhile they took care of her during the day. The first outing we had as a family resulted in her getting a cold. A simple cold shouldn’t be that bad, right? It wasn’t RSV or anything more than a simple cold- and it landed her back in the PICU and on life support so I knew we couldn’t place her in day care, the nursing fell through and I had to cancel it so I decided to stay home with her instead.

              We were nervous for the first few months of taking her out of her crib too long, so we would keep her in the crib except during play time and feedings, baths and spending some time with her. I regret that to this day, but if her cannula came out of her nose for any length of time, she’d start turning blue. We finally figured out how to place her main oxygen tank so it could stretch all through the house and we were able to take her downstairs to be with us during the day, luckily that didn’t last long and around 15 months, she finally had strong enough lungs to get rid of the tube. By that time, she was finally starting to be able to lift her head and crawl during belly time. By three, she started walking without assistance but by that time, we had a misdiagnosis of Cerebral Palsy and she had started Pre-K. She had finished early intervention (birth to three in this state) and she loved Pre-School. Her first year, she didn’t talk and had to be carried. By the end of the year, she was walking holding the teacher’s hand and starting to say words. By four, she was walking on her own, by five she was walking and doing more talking. She started Kindergarten and entered a special class with an IEP. She had a tablet device to help her communicate. Now at seven, they’re putting her in second grade. She’s able to jump about an inch off the ground, walk up and down stairs, run slowly and speak in sentences (short sentences), her hole have fully closed up and she has a normal heart now. She still can’t write but she can read and is starting to be able to do basic math, she understands more than she’s able to communicate back to us.

So, what is 1P36 Deletion Syndrome?

              The first chromosome is the largest chromosome. It may be the most important to development. It is separated into two parts (1P and 1Q) 1P is the shorter arm and 1Q is the longer arm. The whole chromosome contains about 249 million DNA base pairs. 1P36 Deletion syndrome is when a part of DNA is deleted from the 1P arm at the 36 base. My daughter’s particular is 1P36.12-1P36.22. Different areas cause different symptoms but the syndrome has some common symptoms-

1. Low muscle tone (hypotonia)

2. Seizures

3. Growth and feeding issues

4. Developmental delays

5. Birth defects like cleft lip, pallet, heart defects or brain defects

6. Cardiomyopathy (enlarged heart)

7. Hearing loss

8. Vision problems

9. Thyroid problems (mainly hypo but this condition seems to put them at higher risk)

10. Behavior problems (self harm, throwing objects, hitting, melt downs, screaming etc)

              Those are the more common problems. There are some that are more rare- early puberty, undecended testes in boys at birth, scoliosis, neuroblastoma (extremely rare)

              Some of the other random common yet uncommon symptoms include shaking while excited and biting on their hands. My daughter has chew marks all over her hands, we try giving her chewies to use instead but she still has litte blisters. I thought it was anxiety for a long time, but learned it’s a symptom of the 1P36 Deletion Syndrome.

How common is 1P36 Deletion Syndrome and how does it happen?

It’s rare, but one of the more common genetic disorders. It affects 1 in 5-10,000. It’s not completely known how many since there are a lot of kids who go undiagnosed.

It can be passed down but it’s more common to be a random occurrence with no family history.

When it is genetic, the parents usually have what is called a balanced translocation. A balanced translocation is when part of the gene didn’t attach in the proper location and connected to a different gene. Since the gene is there, the carrier shows no symptoms and doesn’t have the syndrome- but they have a 50% chance of any offspring inheriting the deletion.

What’s the prognosis?

              Most children with 1P live into adulthood and with symptoms controlled, can live average lifespans. Some of the complications can take their lives early, but the prognosis isn’t bad. Our geneticist told us our daughter has a 50/50 chance of needing a care taker or living a normal life. There isn’t enough known yet as to the full severity.

              Our case isn’t as extreme as some of the cases I have run across in the forums and support groups I have joined, but it’s not the least extreme. She speaks in basic sentences and her speech seems to improve as her (normal developing) two year old sister’s does. She is fully potty trained, including at night but she has trouble tolerating loud noises and while her gross motor skills are improving, her fine motor still need to catch up. We lucked out and the majority of her problems seem to be physical,(not mental) she developed no brain bleeds or defects and doesn’t have seizures. She did have the heart defects, but they were easily fixable and she speaks more than a few words now. No two cases of any disorder will be the same. There are online support websites available, a yearly conference that is held in late July or early August. The conference for 2018 is from July 26-28 in Houston, Texas.

              The major website is http://www.1p36dsa.org. They have resources, information about the disorder, information for families a store and opportunities to get involved in spreading awareness or just making donations. They are a nonprofit dedicated to education and awareness.