I haven't been too active on here lately, but in case you have been following ds's story, we finally have some answers.
We brought him to CHOP this week for inpatient testing. The 18 hour video EEG showed that he is not having seizure. Which is fantastic news. However, the MRI showed that he had a prenatal stroke in his right rolandic area. What we thought was startle seizures was actually posturing related to the stroke. He has left sided muscle stiffness, hyper-reflexes and hypotonia of the neck and trunk.
The stroke does not explain the nystagmus because of the area of the brain where he had the stroke isn't related to the eyes at all. He saw another ophthalmologist while we were down there and he wants ds to start wearing glasses in order to prevent amblyopia. He'll be fitted for glasses in August.
We saw an ENT while we were there as well. This ENT did a much more thorough exam than the one we saw back in March. In March we were told ds has glossoptosis, which basically means his tongue is pointed down toward the back of the throat more than it should be. It puts the person at a higher risk of their airway being blocked by their own tongue. We were instructed to have a swallow study done before starting solids due to this. The CHOP ENT put a scope down his nose and found out that ds does not have the glossoptosis after all. He was misdiagnosed back in March. The original ENT never even scoped him, he just made that diagnosis based on the fact that ds has micrognathia, which is a recessed jaw. Those two diagnoses can frequently be found together. I'm pretty pissed about this.
Ds is already getting PT through early intervention. The Neurologist wants him to start OT now too. He will likely get a diagnosis of cerebral palsy down the road but the therapies should help to mitigate it.
H and I are still in shock. Even the Neurologist wasn't expecting this. We all were thinking this was somehow genetic. (We saw a geneticist while we were down there and the results will be back in a few weeks) We have been trying to educate ourselves on all of this and what it means for ds's future. Honestly, it's hard for me to even write out how I'm feeling because I struggle to find the right words to describe this. In some senses I'm happy. I'm happy to have answers, happy it's not seizures, happy he doesn't have the glossoptosis. On the other hand the stroke has me scared and confused. I just need more time to process this. I'm going to make an appointment with a therapist, because I have been having terrible anxiety for a while now.
Lastly, @brie has been a great resource for me the past few days. She is only a few weeks out from this herself, but she already has so much knowledge on this. She is great!!
I'm glad you guys are getting some answers and I wish you all good things moving forward. Best wishes to you. Good for you for getting therapy for yourself, that is so important.
((Hugs)) I'm sorry it took you so long to get the right diagnosis. I hope that therapy will help reduce your anxiety as you process all this information.
I don't remember if you are local to CHOP. If you are or if plan to return and want to meet up please let me know. I'm not too far away and have a membership to the aquarium in Camden. There are a bunch of kid friendly things to do in the area.