Hope, Medical Science, Fragile X and all that . . .

Last week I read the non-fiction book The Immortal Life of Henrietta Lacks, the story of the woman whose cells were taken without her knowledge or consent in the early 1950s. Cells that, unlike other cell samples, didn’t die in the Petrie dish soon after being harvested. In fact, the cancer cells taken from Henrietta Lacks kept on multiplying and to this day still multiply and continue to be used in research. They’re the HeLa cells used around the world, which have advanced treatments for things like cancer and polio and helped in many other areas of study.

Although I didn’t plan to enjoy a book about human cancer cells, this book club choice was so much more than a book about cells. It was a biography of Henrietta Lacks and her family, a compelling—often tragic—story that kept those pages turning, even when addressing how complex (yet orderly) disease function tends to be.

As it happens, reading this book coincided with my son beginning a drug study for Fragile X research. If you’ve visited my blog before, you probably already know he is a very low functioning Fragile X patient. Although he’s sixteen years old, he functions like a two year old. Little language, not toilet trained. Sweet, praise God, but a sixteen-year-old-two-year-old is, as you can imagine, quite a challenge.

When he was first diagnosed, I read a pamphlet that said since Fragile X is a single-gene disorder, they estimated a cure in ten years. That was over fifteen years ago. I had yet to learn that fundraising language was far different than that of a researcher. A few months later my husband and I met one of the leading researchers in Fragile X study, only to be told we’d “probably” have a cure in perhaps two generations. The brain, he said, is a very complicated and highly protected organ.

That was when science killed my hope. I didn’t want to hope for something that wasn’t going to happen in my son’s lifetime. I told myself to cling only to the hope of Heaven. No one can take that away.

Then a few years ago I started hearing rumors in the Fragile X world about researchers having “cured” Fragile X in mice. Now, granted a mouse’s brain is a far cry from a human’s, but still . . . This was the moment I started battling with hope. I told myself not to let my hopes get too high. But surely that mouse was the beginning of something . . .

So now, based on what they did with the mouse, they’ve developed two new drugs. At this stage neither have a name, just numbers. After initial testing, the drugs were given to adult Fragile X patients. Only recently have they opened up a study for 12 to 17 year olds. Since the drug has been used on adults for a couple of  years and proven safe as far as side effects, and because my son is so big now, I felt it was worth a try if he qualified. He hasn’t qualified for many studies in the past, mainly because he’s just too low functioning. But for this study, that wasn’t a factor.

Drug studies are far safer, and far more ethical, than they were in the days of Henrietta Lacks – when they took samples or injected patients to study diseases without explaining everything they’re doing. (A stark reminder of my father’s POW experience.) This particular study with my son is a double blind, meaning neither the patient/family nor the doctor will know, until the end of the study four months from now, if my son is actually taking the drug or a placebo.

So far we haven’t noticed much change. He’s always had a few words in his vocabulary, and so now when he strings more than one word with another our first thought is: Maybe he’s on the real drug!

But here’s the thing. While the drug is supposed to make brain conditions better for learning (something never been done before!) even this drug isn’t an instant cure. Even if it ultimately works, he won’t wake up one day with a brain full of knowledge. If he’s ever capable of learning, he’ll still have to go through the long process of acquiring skills and knowledge. It’ll be a long process—but one of hope, if he proves capable of learning more than he’s ever been capable of before.

If that’s a possibility, even for him to improve just a bit, then I think all those hopes I’ve been stuffing away, squashing or ignoring all these years might just burst out like one of those springy “snakes” from a trick can. I’m already having a little trouble keeping a lid on it.

At the moment, though, we don’t even know if he’s on the real drug or a placebo, or if it will work for him. The good news is that at the end of the study, he’ll be able to go on the real drug and hopefully, if he hasn’t already shown some improvement during the study, he will then.

These are indeed interesting times…

All prayers welcome!