Archive for December, 2014

Eye Doc Appt

Thursday, December 25th, 2014

Monday we went to Maria’s eye doctor for a fairly depressing visit. The good news is the ERG was normal (or at least not changed from 2011), which means her optic nerve issue isn’t retina-related, which he says is good. She’s had several MRIs, so we know it’s not caused by a tumor. 3 years ago, they tapped her shunt to measure the pressure and it was fine, so the shunt is working and it doesn’t appear to be caused by increased pressure in the ventricles.

So what could be making her optic nerve get worse? He said it’s fairly unusual for it to get worse, and it’s fairly unusual for it to be worse on the outside (periphery?) of the nerve and less worse in the middle? When he described it, I pictured the left nerve is worse on the outside, by the ear, and better on the inside, toward the middle of the brain. Same with the right nerve. Not sure if I understand/remember it correctly. I asked him to write up what he told me and this is what he wrote:

“Relatively late juvenile onset of bilateral optic atrophy without retinal or known CNS cause. Please consider mitochondrial/genetic workup. Thanks.”

I made an appt with the geneticist, but we can’t get in for another month. So if she has some sort of mitochondrial disease (the doc says there are dozens of types), it’s possible that some medication could help. *big sigh* I read up on it a little bit and if you have a mitochondrial disease, it can prevent your body from processing certain nutrients resulting in damage of various organs and other body parts, like optic nerves. If this is the case, then why didn’t we go after it more aggressively 3 years ago? Is this my “fault” for not pushing the issue? Do the doctors have a responsibility to strongly encourage the parents to figure this crap out? We did do genetic testing back in 2011, but all I remember them saying is that everything is normal. What the hell does that mean? What did they test for? I know that they are making huge strides in genetic testing, so maybe we couldn’t have found anything back then anyway.

Maddening!

ERG #2

Friday, December 19th, 2014

Maria getting ERG test

ERG

Thursday after popping into my office Christmas party for a bit, and ending up with the best present there — a big, soft, stuffed moose that Maria LOVED! — we headed down to St Joe’s for Maria’s 2nd ERG (Electroretinogram, which is an eye test used to detect abnormal function of the retina [the light-detecting portion of the eye]). After waiting for more than 30 minutes to check in, we went right up for the test. We went into a darkish room, and the tech put an electrode on the top of Maria’s head, plus about 2-3 more on each side of her head, and one under each eye (quite uncomfortable for her). For a little while, she patched one eye, then the other. All the while, she had a bright strobe light in front of her. After doing that for a little while, she shut the door so it was completely dark, then turned on a red light. After 20 minutes, she did the strobe light again, blinking fast and slow. Fortunately, it didn’t trigger a seizure.

Maria did great! I could tell she was so sick of being in her wheelchair, but she behaved. She hadn’t had much to eat all day, nor to drink, but she was such a trooper! No complaining, not much fidgeting, no grabbing the wires.

Our appt with the prescribing eye doctor is Monday. I just hope they can get the results to him in time for him to go over them with us. The reason he requested the ERG is because at our last visit, he said Maria’s optic nerve seems to be getting worse again, like it was 3 years ago. We never figured out why it was getting worse 3 years ago, and I wonder if we’ll figure it out this time. All I know is it’s serious and I think if it keeps getting worse, she could become blind. (Of course, if it’s so damn serious, why does it take them 2-3 weeks to return a phone call and why did it take 4 months to schedule this test? Same thing happened last time. Annoying!!)

Maria has 2 weeks off now. We’re trying to decide whether to go somewhere during that time or just hang out here. We’ll probably just stay here.

Nutcracker!

Friday, December 19th, 2014

   Maria @ Symphony Hall

Maria @ Symphony Hall

Maria and I went to Nutcracker, performed by Ballet Arizona at Symphony Hall last Saturday. It was the first time I’d seen it live and it was amazing! Maria was very interested in it, was watching very intently for quite a while. The part I liked the best was the Waltzing Flowers (I think–white ballerinas dancing while snow was falling. So awesome!) I can’t believe we haven’t been to it before.

The show was very long and before it was over, Maria started making her poopy noise, so I took her to the bathroom, put her on the floor, saw that she wasn’t done, so I put her on the toilet until she was done, then I had to put her back on the floor to put on a new diaper, then picked her up and put her back in her wheelchair. She weighs about 70 pounds now. I do not understand why they don’t have a table in a handicap stall so people like me can change people like Maria w/o having to put them on the floor. It’s ridiculous–how do people do it when they can’t lift their person off the floor? We ended up leaving after all that because Maria was hungry, tired, and thirsty, I’d imagine….

The lobby was decorated so nice with many Christmas trees, opportunities to have your picture taken with ballerinas, nutcrackers and all sorts of other things to buy, and so many people!

Next year we might want to go see Swan Lake or something. This year we couldn’t see our friend, John, who plays bass in the Symphony. We usually say hi after the show, but he couldn’t stick around this time. Maria likes him. First time they met, she pulled him down to her.