Break out the festive drinks and flashy sweaters! It's Collin's six-month-checkup season!
Our first appointment was with his geneticist/neurodevelopmental pediatrician. It was a typical appointment in its length (over 1 1/2 hours - all of actual face-to-face time with the doctor) and depth. The doctor asked lots of questions, took lots of notes, and played with Collin in his super loud Billy Crystal voice that always scares Collin to death. His overall impression of Collin's progress was very favorable. He noticed a big difference in his core strength and his overall social interaction. In our conversation about Collin's apnea (central, which means it originates in the brain), circulation issues (his feet often change color and are completely different temperatures), and fast heart rate, he got into his head that we should consider having an MRI done since all of these functions are autonomic and could indicate an abnormality in the brain stem, which controls many of the body's automatic activities. Also, we haven't had one since Collin's seizures stopped and he thought it would be interesting to see how his myelination is progressing. He also recommended a whole slew of blood tests, some genetic and some just metabolic to monitor the effect of the ketogenic diet on his body. He's actually a fairly test-happy doctor, simply because he feels that more information is better. I can see where that would be a temptation, particularly in a case like Collin's, where there are so many unknowns. But in my mind the hassle, fear, and uncertainty of subjecting your (incredibly complicated) child to sedation requires a better reason than "it would be interesting to see."
Our visit to the pediatrician was also encouraging and the doctor was supportive of my hesitation to rush into an MRI. He talked through the situation with me and explained that nothing he saw on an MRI -- whether good or bad -- would change his treatment or recommendations for Collin. He's a kid with enough on his plate, so anything extra should promise some significant benefits. Always great at going to bat for us, he offered to speak with Collin's geneticist and neurologist if they felt strongly about the MRI. He also felt (as did the geneticist) that Collin's hips feel great and said that if the orthopedist recommends surgery after our next visit in a couple of weeks, "we'll get a second opinion if we need to." It's this team mentality that always makes this appointment a welcome one. As far as doctor's appointments go.
The next appointments will come after our family vacation (which we really need - I'm sure I always say that, but I really mean it this year!).
A quick note on Collin's apnea: after my last post about bipap in which we were preparing to pursue an appointment with a pulmonologist, Collin just stopped desatting. There were even a couple of nights when no alarms went off at all. Needless to say, I felt like a new woman after some uninterrupted sleep, and started to regard the situation with some hope. It's been a few weeks now and the pattern seems to be one of overall improvement. He even slept with only a cannula for oxygen one night and didn't have a single hypoxic (low oxygen) episode, though he used to have multiple dips into the 70s and even 60s nightly. So, we're very thankful and hopeful that maybe bipap really is a long-term solution for our champ.