Ok we went to Mayo with Cassie today. Was a VERY long day to say the least. This is a fast type while we're home (appt was today at 1pm, had lab and x-ray). We go back on Wednesday for a GI Specialist appt, stay overnight and have an MRI thursday (two types-physical and chemical-hadn't ever heard of chemical before) and lots more labs while Cassie's sedated.
She definately has one of these disorders (neurometabolic). Her labs were ALL over the place. The doctor is almost certain this is the one we are dealing with:
It is treatable. It was caught early. She had led us to believe it was much more common that it seems to be, but she works with it so would also have the most current info. Treatment at this age is mixing a NO protein formula with her current formula. I don't know what it is as she ages. This disease goes along with severe reflux (whadda ya know). She has a severe cough at this point, which is starting to seem like aspiration pneumonia (VERY hard to treat), which is why she's having the x-ray. Also the GI visit. If there is pneumonia, she also needs to see a pulmonologist this week if at all possible to see how much lung damage there is now.
Boys with this disease DO NOT LIVE. EVER. That they know of at this point. It is hereditary through the maternal line, which means if she has this it was either a gene mutation and she is the first, or I have it and my sisters may have it, etc, so we would need genetic testing, especially since my sister just found out she's pregnant. I'm so fortunate the boys didn't have this! It's definately going to have an effect on whether or not to have kids after this, too, with possible 100% death for boys that get it.
This doctor treats patients in Canada and all over the Midwest. She has 5 with this disease (all girls, total she has seen, all are also alive and current patients). One was diagnosed at the same age as Cassie is, the rest were older.
Atkins diet is never a possibility with this disease lmao! And I will also need to be treated for it if I have it. Sometimes it is missed as it is a milder form in girls (not boys).
The MRI-the structural one is to see the normal stuff, brain function, blood flow, etc. The chemical one I had to have described. It looks at the brain on a chemical level, and instead of giving pictures of what the brain LOOKS like, it gives a graph of what chemicals are IN the brain. This will show how much brain damage there is. Obviously there is some, because we just found out her intellectual testing is at a 1-3 month level even though she's doing well compared to what she was at. We have to prevent more if we can.
Infections make this disease (all of them) worse, so every time she is sick it will cause regressions in muscle, etc.
I'm so glad and amazed we found this! It could have been missed so easily.
Birth it was written off after tests showed nothing. Two months I almost missed it, then mentioned it to the dr in passing, and she said I could see the ped specialist if I wanted to, so I did. The ped specialist didn't find anything except hypotonia, no known cause, and was leaving it at that until we found out she had been shaken, then referred her to neurology because of that. The neurologist did labs and referred her based on that, but the one of concern wasn't the one he had flagged! It was something that he never would have known to look for. The reason the one he was concerned about was out of normal was because she was held down for the blood draw, causing abnormal results. I'm so glad we pursued this! Even though it has been hell!
Also, the labs they are drawing while she's sedated on thursday will test for a lot of the other possible treatable diseases this could be (if it isn't the one we were told to expect). If those are all normal, it means the disease isn't a treatable one, but they can't draw enough blood at once for all that so we will do it this way first and hope for the best.
Oh, and I traded my schedule around because I won't be at home so I'm off work until Saturday night...
Results of all the tests should be back 2 weeks from thursday.
Thanks for being there everyone!