Spreading Awareness: Duchenne Muscular Dystrophy
Waiting for a life-saving treatment can be painfully slow if you or someone you love has a rare condition. So, what happens when Federal drug regulations won’t review data for a treatment you were waiting on? That’s the situation many patients find themselves in, including one of our interview guests. Joanna Johnson is a parent of two boys living with Duchenne muscular dystrophy.
She and Dr. Eileen McCormick joined EverydayFamily’s Shiloh Johnson to discuss the issues surrounding lifesaving treatments that remain out of reach. They also outline the problems of Duchenne and the need for parents and the community to get involved in helping push for a greater patient voice in treatment approvals. See the interview here:
Dr. McCormick gave us the facts about this rare form of muscular dystrophy, Duchenne. Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy. Duchenne muscular dystrophy is caused by an absence of dystrophin, a protein that helps keep muscle cells intact.
Symptom onset is in early childhood, and the condition is usually diagnosed between ages three and five. The children lose the ability to walk, often around 9-11 years of age. Profound muscle deterioration continues until they lose the ability to use their arms and hands. They end up wheelchair-bound and are dependent for all self-care. Eventually this condition also affects the heart and lungs. This condition is fatal, with death occurring in the late teens or early adulthood.
Dr. McCormick added that this is a genetic disorder, so it is inherited, and the mother is usually the carrier. However, the disorder primarily affects boys. It affects about 1 in 3,500 boys, and only about 1 in 50 million girls. One of the first things to notice is delayed walking in infants. Most children are walking by the age of 18 months. But with Duchenne there would be a delay, with children not walking until 15-20 months of age. Once they begin walking, they may be tip-toe walkers, and a typical sign of the disorder is abnormally bulky calf muscles.
This disorder has treatments and targeted therapy. But certain treatments that could be beneficial to about 15,000 people affected by Duchenne are not approved by the FDA. Joanna Johnson told us more about her experience.
“I have two sons with Duchenne. In my case, it happened to be that I was a carrier,” Johnson explained. “But it was a spontaneous genetic mutation that occurred in me, so there was no family history and it came as a complete shock. My oldest boy was diagnosed at age three, he’s thirteen now. Before we got this diagnosis, you think your life is going to go a certain way. I’m thinking about peewee soccer games and little league, and then you get this catastrophic diagnosis that turns your world upside down. My husband and I were lost and struggling trying to figure out how to cope.”
“We were fortunate,” Johnson continued. “Based on my sons’ particular mutations, they were eligible for a clinical trial.” Both boys participated in a clinical trial for a drug called Translarna, made by PTC Therapeutics. “We’ve seen great benefits with this drug. My sons are 13 and 10. The normal progression of the disease would say that at this point they would be in wheelchairs, and they are both still ambulatory. They haven’t lost any upper body strength. They still play the drums!”
But, unfortunately, it is not an FDA approved drug. Johnson’s sons still have access to it because they participated in the trial. Duchenne is rare, only about 15,000 people in the U.S. have it. With that small number, and variability in the disease, the FDA hasn’t approved the drug, despite the benefits seen from the clinical trial.
It’s only 15,000 people … But at the same time, it’s 15,000 people who need help! They all matter. Johnson said, “My boys will continue to get access because they were in the clinical trial. But there were boys that were unable to get into the clinical trial and they’re waiting for access. They deserve the benefits my sons are seeing as well.”
Johnson and Dr. McCormick are trying to help spread awareness for this disease. Parents of children with Duchenne muscular dystrophy are joining together to find a way to make their voices heard by raising awareness about Duchenne and the desperate need for new treatment options and money needed for research. They are staging races, blogging, sharing stories on social media. They are also reaching out to Congress to help with the bureaucratic FDA hold-up to get treatments reviewed and approved.
Another factor is a new law, the 21st Century Cures Act. This law recognizes that patients play an essential role in the development of drugs and devices to diagnose and treat certain diseases. We hope that the Cures Act will enhance ongoing efforts to better incorporate the patient’s voice into FDA’s decision-making process. Fingers crossed!
For more information about Duchenne muscular dystrophy, check out Parentprojectmd.org. They have information about the disease and updates about treatments.