Tuesday, April 5, 2011

Carter's Diagnosis

Not many know about the concerns that we (and Carter's doctor) were having that led to the appointment we had yesterday morning with a developmental pediatrician.  I didn't even really think there would be anything wrong.  That maybe he would tell us it was all just because he was born premature and we'd be on our way.  But that's not what happened.

When Carter was born 5 weeks premature, we knew he would always lag behind other kids his age.  He wouldn't hit developmental milestones until 1-2 months after most other kids and we were ok with that.  After all, 1-2 months isn't a huge deal, especially when he gets older.  But them something happened...well, not really one thing but a string of things.  He wasn't rolling over.  Not at 3 months or 5 months or even 7 months.  He did it once or twice and his doctor and I just figured because he was my first and I held him so often that he didn't feel the need to.  I rationalized it away as him just being comfortable on his back and not needing to roll over.  Then he didn't crawl...he never really has.  People said that was normal, some kids just skipped it.  He didn't cruise around the house holding on to things (unless my pants or fingers count), he didn't pull up on things, and he still wasn't crawling.  Around 12-14 months he really started trying to walk, though not the take two steps and fall thing that you hear about...when he walked he just did it.  I think he fell once.

So writing these out together seems like we should have known SOMETHING was up and I think in the back of my mind I always did.  I tried, in vain, not to compare him to the other kids in the church nursery who were so mobile at 9 months they were moved into the 1 year old room when my son, at one, wasn't moving at all.  I almost cried when talking to his doctor at his 1 year appointment and confessing that I had NEVER seen him sit up.  If I put him in a sitting position, he could sustain it, but he never sat up on his own.  This was when she referred me to the developmental pediatrician.  "Just to be safe", "because we think he's been behind on some other things like rolling over", and "because he was premature" were some of the comments she used when telling me to make the appointment.  Her language made me think that while something could be wrong it probably wasn't and I was just overreacting.

Somewhere around 14-15 months I decided that I would try Carter on a gluten free diet.  After two days I saw my son sit up on his own for the first time ever.  I don't know if this was a fluke or not.  Everything I've read since yesterday (which has been quite a bit) says nothing about being able to change anything about his problem with diet.  Nonetheless, sitting up is what I found and I was thrilled!  I then was sure that he was gluten intolerant and that was part of what was causing his delays.  So I worried less and less about his appointment and almost forgot about it completely.

Yesterday morning we woke up early, had breakfast, and headed to the doctors.  They did all the normal things:  height, weight, blood pressure, and head circumference.  Head circumference is a bit of a joke if you've ever seen my son.  His head circumference has always been in the 90% percentile and since he was around 12 months it's been off the chart!  We joke that it's because he's so darn smart ;)

We were ushered into a room and waited for the doctor.  The doctor came in and, while watching Carter play, asked some questions about his medical history.  At one point he threw a tennis ball for him to chase.  5 minutes after entering the room he told me that my son had a condition called Hypotonia...low muscle tone.  It's genetic (probably carried by my husband after a discussion of our childhoods) and there is nothing to really be done about it.  Carter will have this the rest of his life...and will, possibly, be affected by it that long as well.  It is a problem with the basal ganglia in the interior part of the brain.  It doesn't affect how he thinks, just how his body responds physically to external stimuli.  He walks a little funny, he is hesitant, prefers to keep to himself (lately this has meant not wanting to be touched by other kids), and can have balance issues.  This diagnosis explains EVERY SINGLE THING that we have worried about since he was born (even his inability to nurse in NICU and difficulty breast feeding).

The good thing....it isn't a death sentence by any means!  A lot of famous people supposedly (according to the specialist we saw) have has similar problems...people like Michael Phelps and, possibly, Einstein.  Carter also has a mild form of it (from what the doctor could tell) which means that we don't think he has any severe problems (this can be caused by things like muscular dystrophy, tay-sachs  disease, cerebral palsy, etc).  He won't need ongoing physical therapy or anything like that--though it was recommended to get him into a swimming class.

Driving home I had a mixture of relief and worry.  Relief because I know that my son isn't going to be physically disabled or have huge problems growing up, plus we now know what the problem is.  But worry because I don't want him to feel frustrated or be teased or not be able to be a big brother because Henry does things the same time Carter does.  Now all I can do is pray that God will give us the strength and wisdom to carry forward from here on.  To lead us in directions that will benefit Carter and steer away from things that might be frustrating or dangerous for him.  Pray that he will understand that he is just different because God had a plan for him that required this to happen, and that he won't feel like a freak.  We know there will be days in his future that are frustrating and things will come up that he won't be good at, but we also know that we can handle it.  We also know what to watch for in future children including Henry (who so far doesn't seem to show any of the same signs).  And who knows...maybe someday he'll win the Olympics :)


  1. Did they suggest any type of physical/occupational therapy? I ask because my friend has twins (fostering) and they have low muscle tone as well, esp the girl. They've been referred to do the above mentioned therapy to help-just something to maybe think about/look into if you continue to be concerned about his development :)

  2. The doctor we met with yesterday said that he doesn't think he'll need anything in the way of therapy yet. He is doing things well (which many others with this disease can't), just slower than most. Our main focus now will be getting a further diagnosis as this is typically a symptom and not the actual problem. Thank you so much though! This isn't a very common diagnosis and it's amazing to find people who have dealt with the same things (even if its a friend of a friend) :)

  3. Oh Bri- thank you for sharing your story with us. I know it wasn't easy. How scary and liberating at the same time to learn that diagnosis. Carter is so sweet and special and perfect just the way God made him :o) Love you guys and I will be praying for you!