Navigating Life with Muscular Dystrophy: A Family’s Story

My son Connor was three years old when my husband Jon and I started to notice that he was not reaching developmental milestones at the same pace as other children his age. While he was still within the “normal” range, Connor hit milestones like walking and talking a bit late. When his daycare teachers shared concerns about his frequent falls, we decided it was time to raise our concerns with his doctor.

We took Connor to his pediatrician who performed a blood test and referred us to a neurologist who could perform additional assessments. We were expecting to wait at least six months before meeting with the neurologist, but Connor’s creatine phosphokinase (CPK) levels, which measure muscle stress or injury, were so high that we were instructed to go to the hospital immediately. Soon after, he was diagnosed with Duchenne muscular dystrophy (DMD).

DMD is a rare genetic disorder characterized by progressive muscle damage and weakness. It primarily affects males and symptoms generally progress and worsen between the ages of two and five. As they get older, individuals living with DMD can become dependent on wheelchairs and require special assistance with many daily tasks. Eventually, the heart and respiratory muscles can also be affected, which can significantly shorten life expectancy. When Connor was diagnosed, there were no treatments available for the condition. Since then, several treatment options have been approved, but there is still no cure for DMD.

The disorder typically runs in families, and although we had no family history, we were immediately fearful that our other sons may also have DMD. Thankfully, the boys tested negative. We later learned that Connor’s DMD is the result of a spontaneous genetic mutation – a rarity within an already rare disease.

As I learned more about DMD in the months that followed Connor’s diagnosis, it seemed like he was struggling more than others his age with the condition. We took him back to his pediatrician, and the following year Connor was also diagnosed with autism spectrum disorder (ASD).

While it can be challenging for us to repeatedly explain to him why his legs do not work the same as his siblings, or try to help him understand which symptoms are caused by DMD and which are caused by ASD, we are grateful that he is not demoralized by his diagnoses. Despite the many challenges he faces, Connor focuses on spending time on the things he enjoys—playing Minecraft, listening to electronic dance music, watching science experiment videos and hanging out with his siblings.

On the other hand, as our other kids grew older, they began to understand the seriousness of Connor’s condition and now grasp what “fatal” really means for their brother. We have never shied away from discussing DMD with Connor and his siblings. Jon and I felt that our transparency would encourage our children to ask questions. Recently, our daughter Keely confessed that she had googled DMD and after reading about the condition, feared that Connor could die at age 20. We were heartbroken to know she had hidden her fear about this because she did not want to burden us further. Since then, we have made more of an effort to discuss Connor’s health as a family.

Connor is now 16 and recently started his junior year of high school. Up until last year, he could walk short distances with supervision. Now, he uses a power wheelchair almost full time and sleeps with a bi-pap machine to support his weakening respiratory system.

In addition to going to school, Connor participates in hydrotherapy, speech therapy, occupational therapy, and grueling biannual “clinic days” at UMass Memorial Medical Center. These days include lab work, a cardiac MRI, a DEXA scan, an EKG, x-rays, and appointments with his endocrinologist, nutritionist, cardiologist, pulmonologist and neurologist.

Although Connor is the only person in our family to have a diagnosis of DMD, our entire family has been transformed by the disorder. We have learned the importance of communicating, sharing our feelings about Connor’s health, the value of being surrounded by a supportive community, and the significance of contributing to DMD research efforts. While it has become more difficult for Connor to participate in the screening processes required to enroll in most clinical trials, he is still passionate about making a difference in the DMD community and helping others who live with the disease.

In September, we are using Muscular Dystrophy Awareness Month to share our story and help advance understanding of this devastating disease. Our hope is that increased awareness will foster research progress by amplifying the call for additional treatment options for DMD.