BY BETTY VERTIN
As we wait to see what will happen, I take each day as it comes and continue to fight to make sure my boys will have access to this drug – it is our only hope at this stage.
I have three sweet boys with a rare genetic disease called Duchenne muscular dystrophy (DMD), a progressive condition that causes gradual muscle loss and weakness and eventually robs people of the ability to walk, often from as early as 10 years of age. DMD primarily affects boys and can lead to life-threatening lung and heart complications in their late teens and early twenties. There is no cure, and there are currently no approved therapies to treat DMD. However, researchers are working to advance an investigative treatment that is currently available only in clinical trials in the U.S. It has been shown to help delay progression of the disease, and is giving our family and many other families hope that help might be available someday soon.
My family’s journey with DMD began in 2010 when my oldest son, Max was diagnosed at four years old. He was in preschool at the time and he wasn’t meeting many of his developmental milestones. At first we thought he was missing milestones because he was a big baby, but during a parent teacher conference his teacher suggested that we check with a doctor.
Our family doctor enrolled Max in a physical therapy program, and it quickly became apparent that his developmental challenges were due to muscle weakness and not just slower-than-normal development. The physical therapist suggested that we get a blood test for Max to confirm whether he might have a type of muscular dystrophy (MD). At the time, I didn’t know what MD was, so I asked our doctor to describe the symptoms. He mentioned that many boys with DMD have large calf muscles, trouble walking long distances or getting up off the floor, and many other symptoms that described Max perfectly. When I got a final confirmation that Max had DMD, it was the worst day of my life. No parent should hear words like: “your son will die.” As awful as it was to hear that for the first time, our nightmare was only beginning. I learned that as a carrier of the disease, there was a 50 percent chance that my other sons would be affected.
I was pregnant at the time of Max’s diagnosis, and I also started to notice that my two-year-old son Rowen was having difficulty getting up and down the stool he used to brush his teeth. I thought he also might be affected but I wasn’t ready to have him tested right away. After I gave birth to my son Charlie, we had Rowen tested and it confirmed my suspicion that he had DMD. After six months when my baby Charlie was having trouble lifting his head up, we had him tested and results showed that he too had DMD. Within the span of one year, between July 2010 and August 2011, three of our five children were diagnosed with DMD. It was devastating. After an intense period of grieving, my husband Jason and I made a choice to focus on the positive and to do whatever we could to fight for our boys. We started to do research about any possible treatment options that might be available to us.
We learned that the boys had a specific form of DMD caused by a nonsense mutation (nmDMD) and that there was a clinical trial in the U.S. for a drug called Translarna, specifically for patients with this mutation. Max qualified and was able to enroll in the trial. Rowen and Charlie were too young at the time, but have since been able to participate through a sibling access program. We knew going in that Translarna was not a cure, but were hopeful that the drug would help to improve the quality of life for our boys and potentially help to slow the progression of the disease.
Max will be 11 in November, and in many ways he is like any other 10 year old. He loves music and theater and participates in a youth theater group that has rehearsals for two hours in the evening. He is able to go up and down the stairs and stand for long periods of time during rehearsals without any assistance. I’ve also noticed a difference in Max’s fatigue since starting Translarna. Before treatment he would have to rest while putting together a Lego set. Now he is able to complete the set in one sitting. Rowen is seven and our neurologist in Cincinnati has confirmed that his DMD is more severe. He is treated with higher levels of steroids than Max, but he seems weaker and has lost some dexterity in his hands. He now needs a scribe to write for him in school, but he continues to be as active and playful as he can every day. He plays city league baseball with his younger brother, Charlie. With Rowen’s more severe case of DMD, I feel that if he wasn’t on Translarna he would have regressed much further at this point.
Charlie is five and he is the most active of the boys. He loves riding his bike, playing baseball, swimming and swinging on the swing set. He continually amazes us. He starts kindergarten next year and I think he is doing so well because he was able to get on Translarna so young, before the disease really had a chance to progress. With the boys enjoying all these activities this summer, it is devastating to think about what would happen if they lost access to the drug. But the reality is that this could happen if it is not approved by the FDA. As we wait to see what will happen, I take each day as it comes and continue to fight to make sure my boys will have access to this drug – it is our only hope at this stage. I want the FDA to know what this decision could mean for our family and to give Translarna every consideration for approval.
In addition to participating in the Translarna clinical trial, the boys take part in different therapies including physical therapy and home stretching, occupational therapy and speech therapy. Rowen is currently doing weekly occupational therapy (OT) while the other two boys have consultative OT at school. Rowen and Charlie have also both graduated from speech therapy. They use ankle and foot orthotics, medical strollers for walking long distances, and chairs that provide back and foot support. They also follow a steroid regimen and take supplements for heart and bone health. For all DMD care we take the boys to the Cincinnati Children’s Hospital’s Neuromuscular Center two times a year. Max and Rowen both have manual wheelchairs with power assist and we are in the process of ordering mobility scooters for all three boys. We are taking every step available to us to protect their health and to keep this disease from progressing. But we certainly know that this will not be enough.
During the summer, I take the kids to a waterpark two to three days a week to beat the heat and they love playing in the water and going down the slides. I now have six kids, along with Max, Rowen and Charlie; I have my nine-year-old son, Chance, 15- year-old, Lexi, as well as my two-year-old daughter, Mary. I know that three of my children have DMD, but when I think about this rare disease all I see are my sweet little boys growing into fun, ornery, courageous young men before my eyes. And I continually look for ways to give my family the joy and support and fun that any parent wants for their children. •
ABOUT THE AUTHOR:
Betty Vertin is a 36-year-old mom living in Hastings, Nebraska with her husband, Jason and their six children: Lexi, Max, Chance, Rowen, Charlie and Mary. Despite the fact that three of her six children have been diagnosed with Duchenne muscular dystrophy (DMD), a rare and devastating degenerative disease, she has spent the last six years making every effort to help her family live and enjoy live to the fullest. She has made these efforts in the face of severe challenges in the health of her three sons affected by DMD. In addition to caring for her family, she also works to educate people about DMD and raise money for research to find a cure, which has become an important focus based on promising research that is now working to advance potential therapies toward approval. You can learn more through her Facebook page: facebook.com/MaxRowenCharlie
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