Medical Update on Ryan

Today Ryan and I went to see his Genetic Metabolic Specialist in Austin.  I really appreciate this doctor.  He's amazing.  He's like a walking computer database, and he gives lots and lots of information, which I love.

We were there for a special visit, not just a follow up.  At the end of June, Ryan started having seizures that lasted longer than 30 seconds and where he quit breathing for 6-12 seconds every time.  He was having a couple of these each day.  One particular seizure seemed to last from start to finish for probably about 2 hours.  Since that time, he has lost a lot of his skills.  He no longer can hold his head up.  He can't prop sit. He has lost most of his signs ... probably due to the lack of mobility in his arms.  He has also lost his words:  no, mom, and up.  Additionally, he was eating 4-5 jars of stage 2 baby food by mouth during the day and only being fed by his g-tube at night.  Now, he won't eat anything by mouth.  If we get 3-4 bites in during each meal, it is because we have coaxed each of those bites.  He might drink a half ounce of a bottle, but he struggles with it.  At first, we thought the loss of skills might come back, but it's been almost 3 months and he's not regaining his skills.

Before his progress was definitely slow, but he was always making progress.  This change, the sudden increase in seizures followed by the loss of skills, means that a lot of the diseases we had taken off the list of possibilities are now back on the table.  None of them are great options.  We'll be doing testing for several direct diseases.  The orders are:

VLCFA, Lysosomals esp Krabbe re regression; TTP. PPT enzyme testing for Neuronal ceroid lipofuscinosistypes 1,2; DNA for Niemann-Pick C (type 1). Plasma and urine Cr/GAA.

Unfortunately, the lab was closed by the time they were able to get insurance authorization for all of those.  So, we'll get the work done on Monday and it will take 2-3 weeks to get the results back.  (Some of the tests have to be sent to different labs across the country.)  If all of the tests come back negative, then we will need to do an MRI to look at the mylethin sheathing and also do a muscle biopsy to consider mitochondrial disease.

He also recommended a repeat swallow study just to make sure Ryan's current refusal of food by mouth isn't for a medical reason.

So, we'll see what the tests say.  I haven't even researched any of the diseases.  It was enough that the doctor said "I'm sorry.  None of them are good options."  I guess I just don't have the energy right now to feel anxious about the possibilities.  Thus, I'll just pray and then wait until we have an actual answer.

Perhaps you'll pray too?