January 2001 was a happy time for Dan and Tina Carson, of Havre de Grace. It's the month their second child, and first son, was born.
Mark Carson was welcomed not only by his dad and mom, but also by Dan and Tina's first born, daughter Sarah. The young family seemed off to a happy and healthy future.
It was about four years later when Dan, a Realtor by profession and noted decoy carver, and Tina, a registered nurse, began to notice something wasn't quite right with their son.
It didn't seem terrible. He was experiencing general weakness. He would fall easily. He had trouble climbing stairs. Also, his calves seemed swollen, but it would turn out it wasn't because they were especially muscular.
The family physician was stumped and the Carsons were sent to Sinai Hospital in Baltimore to see a specialist, Dan Carson recalls. The doctor, noting the symptom of swollen calves, ran a blood test and came back with a diagnosis: Duchenne's muscular dystrophy. Dan Carson had never heard of it.
"I was thinking good, we know what it is. Just prescribe some pills and we'll treat it," he said in a recent interview.
Duchenne's, the doctor clarified, has no treatment. Its victims have no long-term prospects as every muscle group in the body — except for the eye muscles — falls to the genetic condition. Steroid treatments would extend quality of life, but would offer no long-term hope.
"Love him while you have him," Dan Carson remembers hearing.
"It was terrible...I remember being at work, and looking out the window with tears streaming down my face," he remembers.
Since then, the Carsons have renewed hope for their son and his long-term prospects, thanks to cutting edge research and thanks to the generosity of people in Harford County who have supported fund-raising efforts for research that could give rise to an effective treatment being available within the next two years.
Today (Friday) the Carsons, their friends and extended families are holding the sixth annual county bull and oyster roast to raise money for Duchenne's research. In the first five years, about $900,000 has been raised, including an early sum of about $100,000 that has had a direct effect on bringing about the recent positive research developments.
A little bit of background on the Duchenne's muscular dystrophy, its root causes and whom it effects, is in order. First, the pronunciation is essentially do-shun.
Duchenne's affects boys almost exclusively. It constitutes any one of several defects in the genetic code for a protein (dystrophin) that is critical in the maintenance, repair and growth of muscle cells. The gene is found on the X chromosome, of the X-Y chromosome pair that determines sex. The X-Y chromosome combination is the one that gives rise to males, so if a gene on the X chromosome is defective, there is no extra copy on the Y chromosome to compensate. In girls, if the defect is in the gene on one X chromosome, the other X generally carries a good copy of the gene, thus girls are largely unaffected.
Furthermore, Dan Carson explained, the condition isn't necessarily one that can be checked by doing genetic screening of the parents because about half the time the condition isn't inherited, but is the result of a spontaneous mutation. Such was the case for Mark Carson.
Duchenne's is not specific or more pronounced in any ethnic group or any part of the world and shows up in about one in every 3,000 boys born, according to information from the Foundation to Eradicate Duchenne's. The foundation says Duchenne's "is the most lethal and common form of the 20 muscular dystrophies. Every day, two young boys will die from Duchenne's muscular dystrophy."
The relative obscurity of Duchenne's in the general public belies a disorder that affects many lives. The condition causes muscle fibrosis, which is especially noticeable as swelling in the calves.
The Harford push
Upon getting the diagnosis, Dan and Tina Carson were upended. Like many parents who get bad news about the health of their children, they sought others in the same situation and began looking for any options that might be available. As it turned out, the information they had been given when Mark was diagnosed was out of date. While it remained true there was no treatment on the market, there was research and it had been showing promise.
The Carsons would end up making contact with Joel and Dana Wood, of Alexandria, Va., whose son, James, had been diagnosed with Duchenne's in 2000. The Wood family established the Foundation to Eradicate Duchenne, whose focus was, and remains, securing financing to pay for research that will lead to an effective treatment.