JB with his friend Jack at the UMASS clinic with Dr. Brenda Wong
My son JB was diagnosed with Duchenne Muscular Dystrophy (DMD) in January of 2009 at 17 months old. I was given the diagnosis by a neurologist at one of the top pediatric hospitals in the world.
I was told the cold hard facts of DMD. He does not have the ability to produce dystrophin which is the protein that builds and protects muscles. He will start to improve his gross motor until he is around 4 or 5. At that point he will start falling a lot more. By 8-12 he will be in a wheelchair. Both his skeletal muscles and smooth muscles are affected, so as a teenager he will have cardiac and pulmonary complications. These complications will almost definitely take his life by his early 20s.
DMD and apparently bedside manner were not this physician’s specialty.
When I asked her what the next steps were I was told there were none. The only treatment is a steroid regimen that will wreak havoc on your son’s body and will only delay the progression of the disease by what they believe to be a year or two.
When I asked when can he see a specialist for this I was told there was really no rush. She said most boys do not start their steroid regimen until 4 or 5, when their symptoms become worse so you don’t really need to see him now.
There are two distinct disappointments of that day. The first is the actual diagnosis. The reality that your beautiful son (he was beautiful, check out this picture for proof) has a life limiting disease that will prevent him from fulfilling all the dreams you had already set out for him in his short life.
The second, and I would argue the bigger disappointment of that day was the overwhelming sense of helplessness. What I heard the physician say left me feeling that there is no plan, no hope and no support.
Thankfully, our reality now 10 years later is vastly different in thanks to Dr. Brenda Wong and her team of The Duchenne Program at UMass Medical School. I feel like people use the word “team” frequently but this group at UMass is the epitome of the word.
Each specialist and technician was carefully picked by the quarterback, Dr. Wong. From the phlebotomist to the cardiac MRI technician to the pulmonologist and endocrinologist, you know that they have been instructed on how important each and every patient is.
They include the parent of the patient and the patient in all recommendations. I feel like I am part of the team as does JB. I now feel like I have the ability to face anything that this disease throws our way. They are available to me at all times for any concerns and questions.
For the past two years, I have been thankful for what Dr. Wong and UMass have created with the help of foundations like Charley’s Fund, Hope for Gus and our organization JB’s Keys to DMD among others. In March, when I needed advice on sending JB to school with Covid emerging I was beyond grateful to have them to talk to.
I still struggle with that first disappointment of JB’s diagnosis, with the realness of DMD and what it means for my son’s life. But, thankfully I no longer deal with the second issue of helplessness. I always feel as though I have support, hope and a plan. Because of each member of the team at the Duchenne Program at UMass Medical, JB has the best shot of winning this game of Duchenne.
JB with his sister Caroline one month before DMD diagnosis.
I have two children Caroline (14) and JB (12). JB is living with DMD. Caroline is living with being a 14-year old girl. JB was also diagnosed around Christmas time 11 years ago at 16 months old. We live outside of Boston. JB loves being outside and especially likes skiing and sailing! I founded JB’s Keys to DMD close to JB’s 2nd Birthday In the 10 years we have been running we have raised over $3 million to improve the quality of life and care of people living with DMD.