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. 🙂
Kendra Grubinski said:
Awwwww. L’s cheeks are getting chubby. So blessed to read the progress in your sweet little boys! Praying for you.
Jeannie Wood said:
To God be the glory! It is awesome that you and your babies are having such an impact on others through your blog! Keep writing and we will keep praying. Miracles happen everyday and you are living proof.
Penny jones said:
They are so sweet I love the updates and pictures of L and N. What beautiful boys you guys have. Lots of love and prayers coming your way!
Sheila Blevins said:
And beautiful babies they are! These boys are definitely beating to their own drums. Praise the Lord dor continued blessings. Love and prayers.
Sheila Blevins said:
for – (not dor).
Rachel Curtis said:
Great to hear the updates! God is working with these two precious little boys, I see it! Their story will truly be one straight from heaven. Continued prayers for you all. Sending hugs to you all!
Beverlee Dowdy said:
They are so precious…..prayers continue. Keep it up L and N!