Quick update

Hi guys!

We've had a VERY busy day and just got home from the RDS office. Maisie plopped down on the couch for half an hour of Doc McStuffins while I got dinner ready, and she fell asleep. I'm letting her stay there. Poor kid had a hard day. Here was her schedule for today, and it's been pretty similar in terms of time for like three weeks:

9:00 AM: Arrival at preschool

11:00: Early pickup from school, endocrinologist office

11:40: Collect paperwork from GP, grab some early lunch

12:30 PM: Speech pathology

I think I forgot to mention this, but we started speech pathology when we changed her diet and physical therapy routine because when the atrophy/hypotonia symptoms started to get bad, one of them one delayed speech, by which I mean her enunciation is more limited. 

2:00: Physical therapy

4:00: Late naptime

4:30: Wake up too early from nap because of nightmares

5:00: RDS

5:40: some test results come in, nurse wants to draw blood

6:00: some weird physical tests by another RDS

6:30: off too the chiropractor, late for the appointment

7:30: grocery shopping

8:45: home again, home again, hippity hop

It's hard to say whether the new physical therapy and diet routine have helped much, at this point anyway. Our doctors have projected two months before we start seeing significant improvement, so we're going to wait that long before making any more changes. She certainly hasn't gotten any worse, with the exception of falling down the stairs yesterday morning. But of course, that could be a fluke. We have almost decided to back off on rare disease testing, but the RDS wants to rule out three (four?) mitochrondrial diseases before we lay off her. Let me see if I can list them without checking my Notebook of Knowledge: NARP (neuropathy, ataxia, retinitis pigmentosa), MNGIE (nope, got to check the book -- Mitochondrial Neurogastrointestinal Encephalopathy syndrome), and MERRF (Myoclonic Epilepsy with Ragged Red Fibers). I can't tell you anything about these diseases because I refuse to look them up. I don't want to scare myself in case she tests negative. So once we complete those tests (two are in the works already), we will hopefully not see the RDS for a while. So, wish us luck in testing, and send thoughts of rest and strength to Maisie!

We're still not super clear about what is really the problem here: hypotonia, resurfacing after her infancy, or a brand-new issue with muscular atrophy. I know I've said both, and been fairly sure about both, but our doctors keep vacillating. At this moment, we're stuck. We just don't know. She did have a lot of issues with hypotonia as a baby, because of the damage neural connections between her brain and her muscles. That's part of the reason she didn't start walking for so long. Her muscles were very, very weak for a very long time. 

Maisie just woke up and I need to get some food into her and get her to bed for real. It's been a long day and a late night. I'll finish filling y'all in tomorrow.