Remember those test results that could take 4 to 6 weeks? I heard back from our genetic counselor earlier today.
The results of the testing came back:
CDG (Congenital Disorder of Glycosylation) – NORMAL
Chromosome 17 (currently the only known spot for Lissencephaly type 1) – NORMAL
So…we have no clue what caused the boys’ condition. Aside from the smooth brain itself, the list of their identified symptoms/issues looks something like this:
- Low tone (but not floppy)
- Seizures (sub clinicals are not controlled by meds)
- Small optic nerve (potential vision issues)
That is a pretty short starting list considering what we could have faced.
There are a lot of yet unknowns. But somehow, not knowing which “box” they fit in feels good.
No one can tell us that people with their specific condition only do x or live until y. These boys are outside the box. Charting their own path. And that feels liberating.
Today was a good day for other reasons too. Seizure meds are still being weaned, and N is on his 3rd day of the diuretic. The nurse and I agreed both boys seemed more alert today than yesterday. Not just a little…but a lot? They did lots of very normal baby things. Both boys cued well at feeding time and finished more than one full bottle. More than once they cried when hungry, and were also more alert at other times. N kept wiggling his oxygen off his nose, and doing fine. I have high hopes that he’ll pass his next room air test…
Here are a few pics of our babies…being babies. 🙂