needle in a haystack.

we had an appointment with connor's neuro-muscular specialist today.

she met with the geneticist and head radiologist on friday to go over his MRI results.

so.

apparently, after closely looking at ALL his MRIs together, it is evident that his brain is still continuing to atrophy. (shrink)

there hasn't been a significant change since his last MRI, but there is still a small change.

so there's that.

now they are just trying to figure out which route of testing to do next.

they are pretty certain there is a specific gene that is causing all this, they just have no idea how to find it.

she said it's like trying to find a needle in a haystack to even know which gene to test.

they think it's probably a metabolic disease.

it is still being labeled as a degenerative brain disease, unspecified movement disorder with chorea.

she is going to try to get connor on a trial medication, one that would hopefully help with his movements.

the medication isn't usually given to children, so she's going to have to see if she can talk to some people to try and get it for my sweet boy.

she said that it is possible that if this medication could help with his movements, it might help with his breathing issues?

she doesn't know.

 she said if it was at all possible, she would recommend waiting on making any decisions about breathing interventions until we could try this medication.

but that could be weeks or months away.

so i'll just have to see.

i meet with his other neurologist nurse practitioner on monday, and she will be the one who will be able to help walk me through all our options and hopefully help guide me to the right decisions for my beautiful boy.

so.

for now, i will just keep an extra close eye on my sweet boy, try to keep him as safe as possible and pray for his peace and comfort and guidance in making good choices for his future.

he's a complicated boy, a beautiful beautiful mystery.

and he's perfect.

i love him so much.

<3