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Friday, June 3, 2011


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.


  1. Sweet Heather and Chris,

    Although the diagnosis is devastating your upbeat attitude and love for Carter are the backbone of his success! Life is hard enough without having a sick child. I know that if you continue to be faithful, pay your tithing, stay close to the Lord and to each other, that the Lord will bless your little family.

    Life is not about what we have or don’t have. It is about what we do with what we do or do not have! Each of us has the strength inside us to pull ourselves together for the challenges in life! I pray that you will continue to dig deep to find that strength.

    You are a great mom and your love will pull you through. I will add your names to the Temple roll but I know that Heavenly Father is already keenly aware of you and your little family. He has great plans for Carter! His love for each of us is pure!

  2. It was great to hear much of this in person the other day. I really do admire all you are doing to cope as best you can.

    I did find out a friend of mine from growing up just got a book published about teaching the gospel and being an LDS parent to a child with disabilities. It looked really interesting and I thought of you. If you're interested it is called, "(dis)Abilities and the Gospel" by Danyelle Ferguson and Lynn Parsons. I think I might try to get it myself, because it sounds like it would help with parenting in general. I feel like I have so much to learn before I'm the parent I should be.

    Give Carter a squeeze for me, and good luck with the late night awakenings and screaming. You have been in my prayers.

  3. My goodness! I didn't know about any of this that you and Chris were going through! Carter is just precious.. You guys will always be in my prayers. May God bless you guys and give you lots and lots of strength! Child rearing is tough enough as it is. I'm excited to get to know you better and definitely would love to help you guys out if you ever need it.

  4. Thanks everyone for being so sweet! It has been a struggle trying to find out who to tell, and how to share it. I thought a blog would be a good way to inform people. I do love Carter very much. Alena- that sounds like a good book.

  5. I love your blog! Carter is so fortunate to have parents like you who love him, and want what's best for him. Carter is really cute and I hope to meet him soon :)

  6. Wow! Carter's story is really amazing. I'm glad he's making such good progress. So many of your experiences bring back memories of my little Whitney at that age. You guys are doing great! We're really excited to find out you live close by. We look forward to meeting you soon.

  7. Oh, I should have found and read this before I asked you those questions! :) Wow, Heather. This is really inspiring to me. I had no idea! What a loving and patient mother you are to your sweet boy. Heavenly Father picked you two, specifically, to care for one of his most special Angels. I love the way you write and your positive attitude about it all. Best of luck to your family and thank you for sharing this!!!