We've never had good luck with geneticists. In general, our appointments with genetics have been vague, unhelpful, and discouraging. So I was less than excited to take Collin down town for an early morning 18 month genetics checkup last week.
The strange thing was that it was great.
The doctor spent an hour and a half with us, asking insightful questions and playing with Collin in a voice that sounded ridiculously like Billy Crystal in The Princess Bride. He did a thorough examination, reviewed Collin's fairly extensive medical history since the last time we saw him and I felt like he had a pretty good idea of what was going on with Collin by the end of the appointment, which is more than I can say for some other doctors.
By far, the highlight of the appointment was a sentence that totally took me by surprise: "I'm pretty confident that whatever Collin is dealing with is not degenerative." It felt like it came out of nowhere. For various reasons, I rarely ask questions about things like that, so I didn't expect it to come up. So, I just blinked at him at first and then all I could think of to say was, "Really?" He explained that it is highly improbable that the trajectory of Collin's recent development would be possible if he were facing something degenerative. Instead, he believes that it is a static condition, which would mean that, rather than things getting steadily worse, they will get slowly better. He emphasized the slowly, but all I heard was the better. He encouraged us to go ahead and get our follow-up brain MRI in August, but feels pretty sure that we won't see a change for the worse. Part of me started jumping around and screaming like a lunatic, but another sad and hurt part crossed her arms and said, "We'll see." But even she had to admit that it was an exciting thing to hear from a cautious and thorough doctor.
As always, we left with a "plan" list as long as my arm (which, given my genes on my mom's side, is saying something):
1. He referred us to endocrinology to see whether Collin is a candidate for growth hormone therapy. Collin is below the 3rd percentile in all of his measurements, so he doesn't think it will be a problem, but we'll see. The doctor thinks it could really give Collin's muscles a much needed boost, allowing him to do some of the things he obviously wants to do right now, but physically can't.
2. He also referred us to sleep science to get a sleep study. Collin is a somewhat fitful sleeper and there have been suspicions of apnea for a long time, so we'll see what we're really dealing with.
3. He ordered a ton of blood work, including a genetic test, another mitochondrial test, and several levels linked to the ketogenic diet and metabolism issues. We did this this morning and it took the usual initial try, call to the IV team, massive finger stick/squeeze and room full of stressed-out phlebotomists to get everything we needed.
4. He ordered an x-ray of the hips to see whether or not Collin has any congenital predisposition toward hip problems so we know whether or not to worry about getting him in a stander at this point. We also did this while we were at the hospital for the blood work; it took about 90 seconds and Collin slept straight through it because he was so exhausted and overwrought from the blood draw fiasco.
5. We will be adding a B vitamin complex to Collin's supplement regimen.
We'll be seeing the geneticist again in another 6 months and this time, providing Collin continues to develop at his own pace, I don't think I'll dread it quite as much.