Sunday, September 26, 2010

MRI and Test Results

I got a call from the genetics researcher at Stanford who has been working hard to unravel the mystery called Queen Teen. A few months ago Queen Teen had blood drawn while under anasthesia for an MRI. The researcher had uncovered two new tests that might pin-point the cause of Queen Teen's shrinking cerebellum, hearing loss, and visual impairment. The hypothesis is that she has a Mitochondrial Disorder and there is some evidence to support that, but so far no one has been able to diagnose a specific disease.

They couldn't do it this time either. As usual, the tests came back "normal."

The researcher sounded apologetic about the results, but I wasn't surprised.

"It's what I figured would happen," I said.

"She's still part of the research study, and they can examine hundreds of strands at a time instead of just a few," the researcher said, trying hard to give me hope. "If they find anything, I'll let you know."

"Thanks. I know this isn't your field, but is there any news about the MRI."

She said she thought that I would ask her that question, so she was prepared. The MRI report stated that there was no apparent degeneration as compared to her last MRI, which means it looks like the damage to her cerebellum has slowed down. Yes! When we go to the neuro-genetics clinic in November we'll be able to find out more specifics, but for now the outcome looks good. Why has the degeneration slowed or stopped? Is it the CoQ10 and other amino-acids? Maturity? Has the disease reached a plateau?

So many questions and probably never any real answers. It's okay. We're used to it. Sometimes I think it would be nice to have a clear diagnosis, one that would fill in the blanks and tell me what we're dealing with and what will happen. It might make it easier to prepare. But on the other hand, I'm glad that everything is still up in the air. We just take it a day at a time.

6 comments:

Confessions of a Closet Hoarder but you can call me Judy said...

Glad you got some good news out of all of it. I know it can't be easy for you to not know the why's.

{{{hugs}}}

leah said...

Not having a diagnosis can be tough! Good news on the stable MRI results, though! Here's to continued stability (and hopefully, one day, to a diagnosis)!

Mother of Chaos said...

That's definitely a meh-yay, huh? We humans are sooooo fond of our labels, we like to have a name to go with everything. But at the same time, sometimes, I really DON'T wanna know.

Sarcastic Bastard said...

Happy to hear you got some positive news.

Love,

SB

TherExtras said...

Cheering with you and the rest on the encouraging MRI results!

Barbara

CC said...

Hugs during all of this uncertainty. Glad that things are more stable right now!