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About 1P36 Deletion- Why Do I Even Have To Know?

              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.

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I can’t believe the difference a year makes

We just got home from the beach yesterday. We went last year during the same week.

I found our old beach pictures from last year and was amazed by how different the two year old looks.She looks so much older now, is now the size of a 3 year old and is talking, running, jumping and was so much more active. She was even trying to teach herself how to swim in the baby pool (partially dragging herself and partially starting to dog paddle- following the lead of some of the other kids she was watching and playing with)

It had me thinking about last year (she was 1 1/2 and now she’s 2 1/2) and also wonerding what the next year will bring us.

Now, she still loves bubbles, she loves nail polish, hats, headbands, necklaces, bracelets and rings. She loves lollipops, Ciao brand vegan cheese, apple juice and soy vanilla yogurt. (or as she calls it, “ice cream.”)

Back then she ate everything but had chronic diarrhea but now we know she can’t have animal milk or animal milk products (including goats milk or cheese) so we have to give her vegan butter, sour cream, cream cheese, cheese and ice cream)

Back then she would eat nearly anything and had a very healthy appetite, but now she only snacks and eats cheese, fruits and some vegetables- she’ll eat sandwiches occasionally and loves apple juice.

 

My 7 year old is fully potty trained, but has been since she was 5. (she was potty trained during the day at 4 but still in overnight pull ups- now she’s almost fully accident free), she’s talking a lot more, starting to be able to jump off the ground and can do stairs and stoops/curbs alone. Her speech is improving and she’s now going into her bedroom to play. She still melts down with loud noises and has ear tubes again but she’s getting a tiny bit better with some noise. She’s the one in the family who can eat whatever she wants but still eats like a bird. We did finally get her stably up to 38lbs but next year her sister still is probably going to pass her up weight wise.

She has also come so far this year, but she looks about the same. She’s not at an age where looks drastically change. With the two year old, she moved out of being a baby to being a toddler and you can see it plain as day.

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I never thought a bowel movement would excite me

I was always beyond disgusted about the whole concept. I still can’t say p**p without gagging but my 7 year old was born and we began a battle around a year with constipation. She’ll get so backed up at times, she has been hospitalized. There are times she’ll be so constipated, she’ll cry while doing it. Now, even though we do have medication help (Miralax), she is able to without the tears- and she’s now going on her own without prompting. That itself seems to be an accomplishment since I’ve seen quite a few kids with her condition who aren’t potty trained at all.

My youngest is the opposite, any animal cheese or milk and she’ll have diarrhea. We are finally getting the hang of her (more expensive) diet, and it’s paying off.  She’ is now having more solid and less runny blow outs.

 

If you had told me when I was 20 that in 10 years, I would be monitoring and discussing poop with anyone (doctors etc), I’d have said you were out of your mind. I guess having kids changes things. I still almost puke when I smell vomit, but I can clean it up and deal with (kids) puking on me. I also can change a diaper (lost a job because I couldn’t change diapers- well, wouldn’t) and my oldest was my first diaper changing experience (and how I learned that boys aren’t the only ones who can pee straight up in the air…)

 

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In 2 days I will have a 7 year old

I never believed when people said time flies by, but my tiny little doll sized baby will soon be 7. She’s reading, telling time and knows the days of the week. She knows which therapies she has on what days and reminds us on a regular basis.

I don’t know how her future will look, it’s 50/50, but she is already showing herself to be more intelligent than people give her credit. She’s kind, sweet, goofy and loving and I’m so lucky to call her my daughter.

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I spent 6 years searching for a diagnosis

For my 6 year old. As of today, I officially have one. It was given first back when she was a tiny baby in the NICU but I went into denial.

She went through hell for over a year. She was in NICU for 8 months, had 4 surgeries (2 heart caths to close 2 an ASD and PDA, feeding tube placement and laser eye for ROP)

She came home on oxygen, heart monitor and with a feeding tube. She was born with 5 holes in her heart, unable to breathe without help, under 2lbs and 13 inches long.

She didn’t walk until shortly after her third birthday, didn’t talk for years and now only says a few words at once (has a speech impediment but is able to copy what we say, can read, and understands everything we say)

She still can’t jump off the ground, can’t walk unassisted down steps and is finally slightly able to step off the curb. She still can’t write but is starting to be able to give it a great effort and is in therapies multiple times a week both at school and outside of school.

She looks normal, when you hear her talk, she sounds special.

She’s sweet, kind, loving but has tantrums that can rival anyone else. She’s tiny, we have trouble getting her eating enough to gain.

We finally have a diagnosis. We finally know what’s wrong.

We don’t know how severe the outcome will be, but we do have a name. It’s a name I’ve been studying trying frantically to convince myself is not right. It is. Blood tests have proven it. I am, in a way, in a shock but really- I knew it and we were getting all the symptoms treated (it’s not a treatable condition) but I wish it was something she would just outgrow.

 

The name is 1P36 Deletion Syndrome. She has a lesser severe form. She has no seizures, no issues with her brain, her lifespan is normal, she has none of the facial features, but she has it. She’ll likely always be tiny, skinny and we have to have her heart monitored despite all holes closing up but I wish I never had a reason to have heard of this condition. I am still unsure how to feel.