neuro update
All of DS's blood metabolic tests came back normal. His chromosomal microarray came back normal. His MRI came back normal (His IVH was completely reabsorbed along with his hematoma).
Now they want to do a lumbar puncture and test his CSF for neurotransmitter disease, metabolic disease (he said sometimes they don't show up in the blood if they only affect the brain) and mitochondrial disease.
Apparently pure hypertonia is very rare. He's been hypertonic most likely since in utero. If everything comes back negative they will do one more round of genetic tests-hyperekplexia and stiff person syndrome and some others. If they're negative they're going to take a wait and see approach for a few more months.
The other possibility is that I had an infection while pregnant, I may not even have known, and that's why he's hypertonic and there would be no way to tell now. So now we wait again.
Re: neuro update
It is sort of strange how it feels good to get normal results, but at the same time it is so frustrating to not have any answers. We are in a similar boat, all testing is normal so far, we will repeat some stuff later, but it is likely we will never know what caused DS's oxygen deprivation that lead to his brain damage, or what caused the blood clot in his arm.
I hope you guys get some answers and peace of mind.
We're kind of in the same boat, they thought DS was having seizures, he's never had one. They told us that he had a traumatic delivery and this was just a birth injury, it's not.
Just remember, that a baby's brain is growing so rapidly and has the ability to self heal. DS had an IVH Grade I and a hematoma, both have been completely reabsorbed and there is no sign of his traumatic delivery.
Do they intend to do a repeat MRI in the future on your LO?
The worst part is not knowing. My little guy is so stiff we have no idea if he'll outgrow it or if it will be a huge hinderance. We also have no idea if there is any cognitive delays associated with it.