Thursday, December 14, 2006

Answers and More Questions and More Answers and More Questions

By the next day, Mr. WG and I began to talk to each other about what we were reading and thinking.

From an email I sent to our former pediatrician:

My husband thinks the neurologist was looking for a syndrome to give D., and I understand why he wants to believe that. But looking at the pictures I've seen online and reading the descriptions -- it's really possible that D. does have Sotos.

In the meantime, D. is adding new words each day and is getting speech therapy weekly. He is not getting PT or OT anymore, because the therapists who evaluated him felt it was unnecessary (I agree). We're planning to start him in a half-day or preschool in the fall, and we might put him in a summer camp program as well. I also don't know, at this point, how much information I would give his teachers, because I don't want them to automatically label him. I don't want to be a parent in denial about her child's abilities, but I also don't want to define D. by a diagnosis. The waiting for answers is the hardest part.

He never wrote back, by the way. Bastard.

I read everything that came up when I googled Sotos. One page would make me think things would be OK, the next would crush my hopes and leave me gasping for air. Remember, too, that at the time I was learning all of this, I was three weeks postpartum - not exactly the embodiment of emotional health and stability. In fact, I rather think that "crazy as a freaking loon" would be a more apt description of my mental state at the time.

The incomparable Teej was subjected to many of my ramblings via IM, email, and phone, and my friend M. earned BFF status with her ability to listen while still allowing her daughter to play at my house instead of running screaming from the crazy lady.

We thought the DNA testing would take about 6 weeks, but three weeks after our original appointment, the neurologist called. (If you have an aversion to clicking links in the middle of a story, just know that he told us that D. didn't have Sotos, but it turned out later that he was wrong.)

When I called my parents to tell them, they were so happy. And so were we. I think that the main reason is that, if D. didn't have Sotos, it meant that he could outgrow all this stuff and be "normal." And really tall. The reality is that he'll never outgrow Sotos (and he won't be as tall as we thought), but he still could overcome his delays.

Anyway, the neurologist told us to keep our genetics appointment, and it's a good thing, because when we walked in, the geneticist immediately began explaining that D. most definitely does have Sotos, which he later proved with a second, different DNA test.

The moral of the story is that you should never trust a neurologist to do a geneticist's job. But also that you should know, if your child is being tested for Sotos (and possibly for other genetic syndromes) that there are two kinds of DNA tests. The first, and less expensive, kind looks for a deletion in the genetic sequence. The second, which is not only more expensive but also takes longer, looks at the actual sequence much more closely to determine a mutation - a scrambling of the genetic material, if you will. Sometimes it finds a real scramble - the DNA is a jumbled mess. In D's case, it found a premature stop.

Every time I think about that, it horrifies me.

We've only had this diagnosis for a short time, and I know that it doesn't change who D. is, but it does change everything that we believed about the world.

N. B. I had to kind of mess around with Blogger to make it work, but I added a link over there called “Questions and Answers About Sotos Syndrome,” which y’all are more than welcome to check out.


Teej said...

I am so glad you wrote that Q&A page. I bet that will be exactly the kind of frank, helpful info other people will need, which you know because it's info that you couldn't find when you needed it. And, you know, it's funny, what with the self-medication advice.

Anonymous said...

I don't know if this helps at all...but I was in my 20s before I looked my age. 95th percentile on height, 95th percentile on weight, and luckily or unluckily 99th percentile on the intelligence tests, from age 2 through college. People saw me, heard me talk, and assumed I was 6 when I was 4 or 20 when I was 12. Sometimes it was fun, and sometimes it was downright terrifying (when I was in 4th grade and all the size XL girls' clothes were getting too tight in the chest and the hips and the high school boys would whistle at me as I walked home from school and I'd cry to my mother who told me that I must have been wiggling my hips when I walked...)

It was pretty lonely for a few years there, because I didn't really fit in with people my own age, and I didn't fit in with people who looked my age (OK, what teenager does?)...but it didn't last forever.

If your kid looks older than he acts as a's not a life sentence (though it doesn't make it any easier to be a kid).

Lisa b said...

ah if you get a chance to have a look at some of my posts you'll see I have a hate on for my geneticist.
I realise more and more that I should appreciate the early diagnosis but he screwed up pre-natally.