So much going on and yet nothing happening.
My brain is working on overtime with all of the new information that is slowly coming out about Braeden. Neurology states his brain looks good (huge relief!) But, then you ask why does he have so many issues. He stumbles around with the description of a Global Delay which really doesn’t mean much in the real world.
He had his IEP and his qualifying factor of speech delay is slowly improving which is great but, it’s the reason he is receiving other services which he really needs. So, if that goes bye bye… so does everything else. Right now, he’s scheduled for a follow-up IEP in June and he will most likely lose services at that time due to a loss in a qualifying factor. We are scrambling trying to prove he has a need for the extra services right now.
Sorry if this is all over the place, this whole process seems to be too so, it’s no wonder I can’t focus a single thought.
For right now, we are awaiting Neurology to order his genetic testing (which takes 3 months to process.) We are awaiting an appointment to have his legs fitted for Ankle Foot Orthotics (AFO’s) to correct his legs from the orthopedic, we are awaiting a call from the surgeon and his GI to discuss the muscle issues happening with his esophagus. The only thing we can derive from all of this is that it all seems to be muscular related. Though we know it’s not a neuromuscular disorder.
I’ve been researching and researching and from the best I can tell, we are dealing with myotonia congenita a congenital muscular disorder/disease. I am not a doc, so we don’t know for sure but it’s certainly what I am trying to find more about… there are two conditions known with this called Beckers Disease and Thomsons disease which both seem to have a lot of the symptoms Braeden presents. Though, it’s likely we won’t know until the summer what the tests show and what this really is. It definitely feels all muscular related. So for now, we treat the individual areas, continue to go through necessary testing, and hope for some answers before Braeden loses his services in June or starts Transitional Kindergarten in the fall.