Tis the season for time with family. Thanksgiving, Christmas, New Year’s, these are all days many of us meet with our family to hug, laugh, cry and let’s not forget a little drama that happens at a least a few family gatherings.
Oh, is my hand the only one up? Regardless, we are imperfect beings, that’s a part of being human. We all have flaws. On another level biologically — some of these flaws as tiny as they may be such as a flawed gene, vastly affect our body.
Such is the case with the Morrow family. who live in Escondido. Their son Ryan has a biological defect that not only affects his body radically but his life expectancy.
Many children suffering with this disorder live only till their teens or 20’s. It is called Duchenne Muscular Dystrophy. And it affects about one in 3,500 children — mostly boys — due to its mutation passing from the mother’s X chromosome. The lack of dystrophin causes a depletion of growth in the muscle structure, organs and dramatically worsens as you age.
From the look of Ryan who suffers from DMD you would think he is a normal boy with no apparent issues. Aside from some thick calves, it is difficult to tell. But he has been diagnosed with one of the most severe debilitating forms of Muscular Dystrophy.
And for many parents whose kids are finally diagnosed with DMD it’s late in the game. Todd and Angie Morrow, the parents of Ryan — a bright couple — they knew something was wrong right away. It took some time to figure out what was going on, but doctors finally genetically confirmed the Morrows’ disquietude, their 2-year-old son had a life threatening disease, that currently has no cure and little to offer as far as medical treatment toprolonging their son’s life.
Right away Todd and Angie began looking for answers and solutions. Beyond some steroidal medicine there really was nothing to help treat their son till they found a drug company which has been trying to approve a drug through the FDA.
There is a problem. Arguably “red tape,” that almost sounds like the AIDS epidemic and the politics preventing people from getting medicine for it, has been a roadblock for this family. PTC Therapeutics, a drug company with many years behind its research, developed Translarna to treat the disease, and it was rejected. The FDA felt the trials did not show a significant enough amount of improvement, even though conditional approval in Europe is happening now. Recently the Committee for Medicinal Products for Human Use (CHMP) also put their stamp of approval on it. Safety does not seem like an issue with the drug. Which begs the question: why not try it?
Recently something like a prayer was answered. The FDA, through a bit of a fight, fuss, and some pressure approved a drug to help another type of Duchenne Muscular Dystrophy. This drug doesn’t benefit Ryan’s specific type of DMD but is a step in the right direction toward the cause and brings some hope to patients with other types of DMD that their treatment could be approved soon. Time will tell if these drugs will indeed have a substantial effect.
There is still much work to be done on DMD as kids’ lives are at stake. This article was done to bring awareness about Duchenne Muscular Dystrophy and how we can help.
Put yourself in this neighboring family’s shoes and be very thankful for your son, daughter, your family even with all their imperfections. And happy holidays!
For more information on DMD visit Parent Project Muscular Dystrophy PPMD online, or www.mda.org