Thursday, May 18, 2006

I Never Call, I Never Write

Yikes. Sorry.

In my head, I post a lot. I compose brilliant, Pulitzer-worthy paragraphs while nursing my baby. I write positively genius prose in my car on the way to the grocery store. And since no one has bothered to invent the piece of equipment that uploads my brain to this site, it never gets posted.

Anyway.

When last we saw our fearless heroine, she was... really tired? Most likely. OK, so since then, some things have happened. Most notably:

Words, words, words

D. has begun using 2-word phrases regularly and must have over 100 words by now. He talks a lot, and he's more likely to use words than grunts to make his desires known.

Our trip to the geneticist, by WG

We went to the geneticist, Dr. Positive. He walked in the room and said, "OK, so we're dealing with a diagnosis of [the syndrome]." We said, "Um, no, he tested negative for that.

Dr. Positive said, "Right, I wanted to talk to you about that. See, there are actually two tests for this syndrome. One looks for a deletion on the gene, and one looks for a mutation. D. doesn't have a deletion, but we haven't tested for a mutation. I'm telling you that your kid has it. Even if this test comes back negative, it only means we haven't identified his specific mutation yet."

The rest of the hour was a lot of, "So, wait, you think he has it?" "Absolutely. But that's actually good news. This is the best of the overgrowth syndromes to have." "But you're pretty sure he has it?" "He definitely has it." Lather, rinse, repeat.

At the end of the consult, he ordered a bone age and a skeletal survey. We went to X-ray and had those done. They printed out films for us to take home and mailed us a CD with images a few days later. I love this hospital. The bone age looks at, well, the age of D's bones in comparison to his chronological age. D. is 30 months old -- 2.5 years. We wanted to see if his bones measured at that age or ahead. They told us we'd find out the results in a few days.

Our followup trip to the neurologist, by WG

We had a followup with the neurologist yesterday. We came in and he had the write-up from our genetics visit, which just happened last Thursday. I really love this hospital, because they really do share information and work to make things easy for the parents. So, the neurologist discussed what we had heard in genetics and nodded a lot. Then he said, "I have the results of your bone age. Let me pull those up."

D's bones measure at 56 months. Yes, nearly TWICE his chronological age.

That was a... a weird moment. I think somewhere, I kept expecting the bone age to be normal, on track, that my son is just tall. That he would be a tall adult. And that's apparently not the case. This is an overgrowth syndrome. It is a permanent, unchangeable thing.

We talked about the fact that D. is slightly more at risk for seizures than other children, although it's not a major concern because he's never had one before. The neurologist talked me through exactly what I would do if D. ever had a seizure. That was really helpful -- takes away a lot of the panic.

We also talked about the fact that this is not a syndrome that causes regression. D. should continue gaining skills and should keep the skills he has. The neurologist pointed out that at 30 months, D. has the verbal skills of, say, a 20- or 24-month old. That's not a huge delay, and it's the kind of delay that shouldn't make a difference at age 12 or 18. He agreed with our decision not to make allowances for D.

"He may have trouble learning, but that doesn't mean he can't learn, and that doesn't mean you shouldn't challenge him," he said. "He may have to work harder, but that's not a reason to make things easy for him."

My parents are on a cruise right now, and tomorrow is their anniversary, so I'm holding off on updating them, because they'll worry about me. And oddly enough, I am OK. Maybe it's the Zoloft, maybe it's just having had time to deal with things, but I have not lost it. I feel OK with this so far.

So that is where we are right now. And I will try to be better about posting regularly.

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