Seven years ago we adopted my son from Korea. It was love at first sight. I still remember the times right after we got him, and how my wife and I would take turns sleeping with him on a mattress on the floor in what was to be his room so that he wouldn't feel alone in the new place. In the early mornings I would wake up and carry him down stairs to sit in a recliner with him sleeping on my shoulder, his little face inches from mine and gentle snores in my ear. There is no better thing than sitting in a comfortable recliner with sleeping baby, none at all.
Jason was always something of a late bloomer. He didn't walk until he was 2 years old and even then he had trouble getting off the floor. He clearly understood a lot of words but didn't speak much until late. We took him to the doctor and a physical therapist but no one seemed much concerned about it, telling us he'd catch up soon enough. And then one day his preschool teacher told us that she thought we ought to have him screened for muscular dystrophy.
Denial was my first and strongest reaction. It was just a teacher talking, no one else had suggested such a thing. And then my wife brought home a book about MD from the library, and denial began to get harder and harder to support. The book's descriptions of a kid with MD fit Jason to a T, even describing exactly the way that he sat and the way he got up from the ground. We took him to the hospital and came away knowing the truth, even before the test came back.
Muscular dystrophy comes in many types. The Dystrophin gene is the largest gene in the human genome and there is plenty of room there for mutations that make things go wrong. Duchenne Muscular Dystrophy is the worst kind, a progressive wasting disease where the muscles degenerate over time. Jason is seven now. He will probably be able to walk for anywhere from 1-4 more years, at which time he'll need a wheel chair. Next he'll lose the ability to swallow and have to eat through a tube. Eventually he'll be unable even to control an electric wheel chair and be confined to his bed or have to be pushed around by someone. Then his heart will give out at last, probably in his late teens to late 20's.
There is, however, a ray of hope. Thanks in large part to Jerry Lewis and his telethons, MD research is fairly well funded and there are some promising therapies on the horizon. The one most people seem to be excited about is called exon skipping. In life forms other than bacteria, genes are composed of regions called "introns" and "exons." Genes are copied into a molecule called messenger RNA, which is then translated by ribosomes into proteins, from which our body and the enzymes that make life possible are constructed. Introns are sections of sequence which are discarded, and the exons are stitched together without them. With exon skipping the 'broken' exons are discarded, and a smaller but sometimes highly functional gene product is produced.
Perhaps even more exciting is gene replacement therapy, in which a smaller version of the gene has been inserted into a genetically engineered virus which then inserts itself into every cell in the body, essentially 'curing' the disease. Such a virus has already been made and tested on mice, and is now in clinical trials on humans. It will probably not be a complete cure because by necessity the new gene has been greatly reduced in size, but the tests so far have been vary encouraging.
There has also been very promising work on drugs that elevate the body's levels of Utrophin, which is a gene very much like dystrophin and which does many of the same things.
Because of this hope, and because I don't know how I would face a future without my son, I am participating in the annual Muscle Walk fundraiser for the Muscular Dystrophy Association. You may think that the MDA is already well funded and that your money might be better spent elsewhere, but I submit that the fact that the MDA is well funded means that they might actually be able to cure the disease, were spreading money around can mean that little gets done. At the same time, MD research will have wide application to treating other diseases. Exon skipping can probably be adapted to other genetic diseases, and the groundbreaking work on gene therapy can also be more widely applied. Anyway, if anyone has a few extra dollars laying around, here is my Musclewalk contribution page:
Even small contributions help.