As Max has gotten older, for the most part, he's not needed to go to regular clinic visits but once or twice a year. We see his neurologist about every three months, and metabolic every six months. This past year, it's been all mixed up, because it seemed we were back to seeing them all the time since he's been in the hospital so much.
Today, sitting in the waiting room for his metabolic appointment, one of the doctors walked through and said hello. He also said how nice it was to see us outside of an inpatient room!
Max's check-up today was good. No changes to diet, or medicines. He's growing, and nothing is showing as going wrong from a metabolic stand-point. They are on board with the plan to treat the stomach issues with the antibiotic, which Max started today.
The only new thing brought up today was another test to see if they can finally pinpoint exactly what gene is missing, or not developed in Max. Max has had so many tests done on his DNA, and chromosomes, but nothing is ever definitive on the metabolic disease he presents with clinically.
Today, he was enrolled in a study that the hospital research lab is doing to sequence his entire genome. I had heard about this a while ago and wondered if they would want to enroll Max, as he's such a rare bird in the metabolic world...and that's saying something, it's a world full of rare diseases afterall!
They are hoping to find something that sticks out and says, "hey - I'm different here!". Although Max has all the symptoms and clinically presents with having the metabolic disease Methylmalonic Acidemia + Homocysteinuria, Type C, they have never found the mutated gene in him. This doesn't mean he doesn't have it....it just means it's a new something they haven't found yet. MMA Cbl-C PLUS something. That's what this testing is for. To see if they can find the PLUS something, and see what it might tell them about Max.
In order to put his genome against something that isn't missing the PLUS something, they also took blood from me, and Steve to sequence ours as well. Freaky science! It's crazy to think of our blood growing things here and there, but we really hope it will help to pinpoint more about Max. And even if it can't do anything to help Max directly, one day it could help someone else.
It was a long day, but productive. And exhausting!
Max thought it was best to just sleep the day away after getting so much blood taken. He slept on the way home, and once we got home, and while he ate, and while he was having "play time" on the floor.
My guess is, chances are he got all rested up to play all night. At least, that's what it sounds like right now! We'll see if I can convince him otherwise.
2 comments:
I'm curious to know the results :).
We are too Shachi. It likely won't change much about his daily life. But, it could help them understand Max more, and organic acidemias better. And perhaps, if they find exactly what it is, it could be tested for in other babies in the future.
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