What They Said

My girl is in pain. Constant, unrelenting pain. And there is not a damn thing I can do about it.

I am angry. Furiously, overwhelmingly angry. And I try to control it, but it's a battle I'm often losing.

It's been more than four years since I first pointed out to a doctor that she had some weird shaking in her legs. It was from an ankle sprain, they told me, and suggested using some ice and tylenol. It didn't help. The shaking was because she has low muscle tone, they told me, and suggested physical therapy. It didn't help. One night, her feet locked into position, and her brother had to carry her to the car. It was because her shoes didn't fit right and she stood too long, they told me, and suggested a warm bath. It didn't help. After ice skating one New Year's Eve, she spent the next day having full-body tremors, scary enough to send us to the ER. Her spine was too tight, they said, and she should have surgery. So she did. And less than 48 hours after the surgery was over, the tremors started again. I told everyone who would listen - every doctor, every nurse, every physician's assistant - that this just didn't seem normal to me. It was interesting, they said. Maybe a side effect of medication, though no one seemed able to decide which one it might be. I made phone calls. I sent pictures and videos by email. See a neurologist, they said, and so we did.

Dystonia. Myoclonus. That's what we think, they said, though we're not quite sure. More meds. But they didn't work. Give the medication time, they said, and so we waited. And we added more medication. And yet another one. She slept. A lot. Slurred her words. Missed school and plays and chorus concerts and swim lessons and parties. Try more meds, they said. And still, there was pain. So. much. pain. Walking hurts too much, she says. I need my wheelchair, she says. And the school nurse calls, again, to say she needs to go home.

Next week she will get shots in her leg muscles. We'll try Botox, they say. It helps, they say. I want, desperately, to believe it will. I want her legs to be still, her muscles to stop pushing and pulling and twisting her feet. I want her to walk to class without pain. I want her to be awake for an entire day, to stop having to take medication in the middle of the night.

There is more, of course. There is always more. More specialists to see, more tests to run, more questions that have too few answers.

The only answer we have is this one: WDR19. That's the "bingo" to the genetic lottery she seems to have lost. It's the answer to the "what" question, but not a single answer to "why". There's no one else. No other child, or teen, or adult, that's listed in any journals or papers or articles or in some random email from one geneticist to another. No way to know what else there is, or whether it gets worse or better. No other mom to talk to at midnight, when google shows me only the same information I've read hundreds of times, when all the scientific terms blur together and I'm trying to make sense of microbiology and chemical pathways. No super specialist doctor in some tiny European country who knows just what to do. There is only the super specialist doctor here, the one who is doing all the research, who can't offer anything more than what I've already found on my own.

I am not an angry person, by nature. I've never quite been an optimist, either, but more of a "silver linings" kind of person. A "find the gratitude" kind of girl. And oh, I am trying, mightily, to dance in this miserable rain, to believe there is a shiny coat of silver under these storm clouds, to trust that we will keep our heads above these crashing waves. I am trying. That's the best I can do.