Our precious Carter, just about 18 months now, was diagnosed the end of April with 1p36 deletion syndrome. Our geneticist from Primary Children's called me and told me what he had, and then we went in the following Monday to get more information. Most of what we found out was through websites and google. Carter is missing part of a chromosome, and it is near the bottom where it is labeled 1p36. This is what causes his seizures, his low muscle tone, his developmental delays and more. I will share more of what this syndrome means as we go on. As we researched his diagnosis, I felt like it fit him pretty well. He is very floppy and hard to hold because of his low muscle tone, and he has always hated tummy time. It was with a mixture of relief and sadness that we received this news. Some of the statistics make me sad when I read them. 90% of kids with 1p36 will only learn a few words, and maybe 20 sign language signs. The average age for walking is 3 years and 10 months. They most likely won't crawl but will bottom shuffle instead. Many have vision and hearing problems- thankfully Carter has checked out on that so far. There are many more areas it affects, but I didn't look at those too closely since he had already seen the liver doctor, a cardiologist, eye doctor and hearing doctor. Some checklists and high fives there!
I will tell you how our process began to finding this diagnosis. Carter was born on his due date, December 8 2009 and everything went pretty well. I was induced because I had high blood pressure towards the end. As soon as he was born, we could tell something was wrong. He was rushed away and ended up staying in the NICU at Jordan Valley for 15 days. They told us he had pneumonia, possibly from aspirating fluids, but to this day I'm still not sure if that's really what he had. He came home on oxygen for another 3 weeks, so 5 weeks total. This was definitely not the easiest beginning to a new life. As time went on, he was perfectly healthy and happy. We noticed his head was flat, and took him in to a craniofacial doctor and they said he would grow out of it. Well, at about 8 months, I took him back in and we fitted him for a helmet. That was a fun 3 months, poor guy. His head only grew a little tiny bit, so we stopped that. At his 9 month appointment, his pediatrician asked me a lot of questions, and most of them I said no to. He suggested we start Carter in Early Intervention Services. DDI came out and evaluated him, and he tested at about a 3 month level on almost everything. He is now at about a 6 month old level.
At about 10 1/2 months of age, Carter started having seizures out of the blue. He had one so bad once that he stopped breathing, turned blue, and threw up. I was alone at home and had to call an ambulance, while trying CPR on him. I thought he was dead, because 5 min or so passed before anyone came. Thankfully, after 30 seconds or so, they got him to breathe again. He stayed in the hospital about 4 days to recover; he slept most that time. When we got home, we increased his medicines and continued working on therapy. Now, the tricky part of seizures, is that when they are not controlled, he has a hard time progressing. After over 6 months of Occupational Therapy, and a few months of Physical Therapy, he can roll over both sides (not all the way), and plays with more toys. So during this process of discovering seizures, having a helmet and therapy, we got into Dr. Gooch at Primary Children's. We heard through someone that she was great. Her assistant got is in the very next week with a genetic metabolic doctor, which was great, because we would have been waiting longer to get in. Also, I found a developmental pediatrician at this time, and she didn't know what Carter had either.
When Dr. Warnock met with me and my mom and Carter, she thought he had Mitochondrial disorder. If you have ever heard anything about that, it is devastating. I remember thinking it didn't sound like him, but that's what she thought he had. After a series of tests, we got the approval from insurance (Medicaid) to run a chromosome test. We were very lucky to get an answer so quickly, and to get into a great doctor. I have found it takes persistence, and asking the right people to get in faster. As you can tell, this has been a bit of a roller coaster. Most every doctor we saw kept saying he had some kind of syndrome, but they didn't know what. Carter's ears are low and stick out, and he doesn't always seem focused and paying attention. I guess that is what clued them in that something was off. I honestly thought my little guy was just fine, maybe a little behind. He sat up at 8 1/2 months independently, and I thought that was about right. He is my first child, so I had nothing to compare him to. Once the seizures started, I think that's when we knew something wasn't right.
We have only had a little over a month to learn about this, and we are learning more everyday. Our current challenges are trying to control Carter's seizures. He is on 2 different medicines, and had a 3rd in the past. He is at the maximum dose on both, so we are considering trying the Ketogenic diet. Unfortunately it seems that most kids with 1p36 don't get their seizures under control. Our other issue is sleeping time-he seems to wake up a lot at night, from seizures and from teething. He also sees a feeding specialist to help him use different muscles, and we have done some swimming therapy. We hope that by sharing our experiences, people can encourage us along this hard road, and also share their experiences as well. I welcome comments and look forward to our accomplishments with Carter.