The possible syndrome roller-coaster.

Well, here it is: the possible syndrome roller-coaster. It's the exciting, heart-pounding, emotional ride in which you get to worry incessantly about your kid while doctors hunt for answers, and then after a fever pitch of panic, you get the 1000 foot drop straight down when all the tests come back "negative."

What's causing your child's illness? It could be this or that or this other really awful thing. But don't worry. We'll run all these tests which will give us answers. Just be patient.


Huh, that's odd. All the tests came back negative. Gee, I really thought it was going to be this really awful thing. She has all the signs, but the tests are negative. Hmmm... you know... it could be this other really awful thing. We should run some tests. 

We've been riding this coaster for fifteen years. We find some balance for a while, until either Queen Teen shows some new sign of a degenerative disorder, or a doctor says she "might" have this thing, and there's a new test he'd like to run. And so we climb back onto the roller-coaster, strap in, and hope for answers.

We still don't have any answers. After years of hunting, we had made peace with that. Not knowing meant the future was still wide open. She could plateau, learn skills, gain strength, and eventually have a life of her own. Maybe she could live with a friend in an apartment with support and find a job she enjoys. She could fall in love. Not knowing what would happen meant we could pretend that everything would be fine for a while longer.

But now, we need to know.

Three weeks ago Queen Teen started gagging on food. It got so bad she couldn't eat anything solid or textured. She's been living on Ensure and yogurt. I took her to Stanford for an emergency gastroenterology appointment where they ran a bunch of tests. The good news is they didn't find anything structurally wrong, which means she's safe swallowing and won't aspirate on her food. The bad news is it means it's probably neurologic. There isn't a cure for that, or an easy answer. So now we're waiting for an MRI and neurology appointment, hopefully this week. In the mean time, we wait. And worry.

We knew her condition was degenerative, but without a real diagnosis it's impossible to predict what degenerative would look like. I figured it meant she would eventually be unable to walk or her hand tremors would get worse. We could manage those. But not be able to eat? How do you deal with that?

It's hard not to think the worst. This is my child, and I feel fucking helpless just watching her suffer while waiting for the phone to ring. No matter how busy I try to stay, or how much I practice mindfulness and "stay in the moment," the fear crawls up my spine like a hungry tarantula. This roller-coaster is a bitch.

I don't know what will happen now. Maybe her eating problem will disappear on its own. She could wake up tomorrow hungry and eat a scrambled eggs without any problem. The MRI might not show anything at all. This could be just a weird thing that will go away in a few weeks. It's happened before; her hand tremors were terrible for a while and just as suddenly, the tremors improved. Why? They still don't know.

But whatever happens next, this is a reminder of just how fragile Queen Teen really is.

 Strap yourselves in kiddies, it could be a long, bumpy ride. 

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.