05 April 2012

My Daughter Has 16p11.2 Deletion Syndrome

And no, that doesn't become any less of a mouthful with time. 

I know that information about this specific deletion can be hard to come by- and believe me, I've looked- so I wanted to share our story for other families with children that have this, or that have any genetic deletion, really.

We first suspected something was different about Syd when she was an infant.  She was very alert and met all of her milestones up until she was a couple of months old.  She didn't coo, and she seemed very weak.  Plus, the kid's head was huge.  While her body has always been from the first to the twentieth percentile, her head has often gone right up off the charts.

Our first pediatrician brushed all this off and told me not to worry, despite the fact that Sydney didn't sit up until ten months, didn't babble, and didn't crawl until she was over a year old.

After awhile, I grew tired of never getting a straight answer, so we found a wonderful family physician at a different clinic who really listened to me and agreed that, yes, there was something not right.  When Syd was fourteen months old, after multiple ear infections we found out that Syd had both a tongue tie (which had gone undiagnosed by the previous pediatrician) and ears full of fluid.  After a trip to a surgical center out of town, a couple of tubes in her ears, and a quick snip of her frenulum, Sydney began to babble like crazy!  It was so exciting.

However, her gross motor skills were still way behind.

Our doctor recommended that we meet with a developmental pediatrician in Minneapolis, and we agreed.  It took several months to get in, but finally we got to talk to a doctor who really, really knew this stuff.  He said that, while the language delay could definitely have been caused the the whole ear/tongue situation, that still didn't explain why even at eighteen months old Sydney could bare totter a few steps, so the hospital drew some blood and sent it off to a lab.

We were utterly shocked when, a month later, the results came in: Sydney was missing part of her sixteenth chromosome.

The prognosis was not encouraging.  Children with this deletion have a one in three chance of developing autism.  They have a one in four chance of developing epilepsy.  Most kids have cognitive delays, learning disabilities, or outright mental retardation.  The average IQ for a child with this was around 70.  Low muscle tone is common, and some kids never walk correctly.  There is a chance for heart problems, but they need to do more research to find out if the deletion actually causes heart issues or not.

I was heartbroken.  It took me a long time to accept that this was the same child I'd given birth to and loved, whether or not her genes were perfect.  When you receive a diagnosis like this, you really do go through a period of grieving for the life you thought your child would have, and it's so easy to let it change the way you see your child.  I went through a long period of depression, and read everything I could on anything related to Sydney's health.  I worked with her a lot, and poured myself into my job as her mother.

The first sign that things weren't as grim as we'd been led to believe was when Sydney hit three years old without any signs of autism.  That had been my biggest fear, and realizing she was okay in that regard took a huge weight off my shoulders.

Then her language began to improve.  At eighteen months, she'd only had two words.  She didn't begin using two word sentences until she was two and a half.  At three, her language skills exploded.  Now, with her fourth birthday only a couple of months away, the child talks in paragraphs.  She uses words I have to define to my adult friends.

Her gross motor skills are still a bit wobbly, but she can run, jump, and climb up the stairs, so I'm happy.

We also found out that the kid has one amazing memory.  She knew all the letters of the alphabet while she was still two, and memorized forty countries on the world map then, too, as well as being able to identify all of the planets in the solar system by sight. 

I never expected that she would be starting to read at age three, and doing K-level math.  I never expected that she would be average intellectually, much less advanced.

I wish I hadn't let the doctors influence my thinking so much.  They made the prognosis sound like an an intellectual death sentence, and I let that inform my thinking for far too long.

And even children with autism or learning disabilities can make huge leaps, to the point that they no longer have a diagnosis, so it's important not to ever give up hope.  Never lower your expectations just because of your child's diagnosis.

Obviously, our story isn't finished yet, and I'll continue to update my blog about Sydney's progress.  But for now, I couldn't be happier with how she's doing.
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Danielle Humphreys said...

My son is 6 he also has 16p11.2 deletion do you see any behavior problems my son is always hitting kids at School and he's always picking on his older brother and younger sister we only found out about a year ago am from Toronto

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