Duchenne has long been a part of our family's past. But we don't have to unpack our things and live there.

  Posted on June 26, 2018

As a family member, sibling and parent, I have lived with Duchenne my entire life.  Before I was born, my family already had lost two of my uncles to the disease, twins in their mid-teen years. In my life, my cousin Gene was the first person with Duchenne that I had the privilege to know.  When I was eight years old, my younger brother David, who was four at the time, was also diagnosed. I remember sitting in the clinic room while my mother sobbed.  At the time, I had no idea what this meant.  I thought, “He will use a wheelchair like Gene, what’s so bad about that”?  As years went by, I would learn.  I watched my brother slowly but surely lose all muscle strength.  Full-time wheelchair use came by age 9, then later the ability to raise his arms without the help of his other hand, and eventually the ability to feed himself.  I assisted with his total care as his body continued to deteriorate.  A few months after recovering from a bout of pneumonia, his heart failed him, and he passed away at the age of 18.  

A very good friend recently told me she used to wonder how someone who is a known carrier would go ahead and take the risk of having children. My response? Every one of these lives I’ve had the pleasure of knowing were worth living. While Duchenne is an ugly beast, the people with it that I have known have given me great joy in my life. I knew I was a carrier, and having children was not in my life’s plan. When I became pregnant with my first and only child, Elijah, my pregnancy resulted in both excitement and great fear…excitement for this new life but scared that Duchenne would rear its ugly head in his future. Elijah was born on October 10, 2004.

A few years later, my fears roared to life.  I vividly remember sitting in Elijah’s IEP meeting for the early intervention preschool program he attended.  The physical therapist mentioned that she had some concerns about Elijah's muscle tone and development and asked if she could contact his pediatrician about her concerns.  We soon found ourselves sitting in a neurologist's office.  Once I mentioned my family history, the neurologist did a few physical tests, and promptly sent us for blood work.  We received the results right before Christmas.  Elijah had Duchenne.  The neurologist told my husband that things were not like they used to be, that there was corticosteroid treatment to slow things down. What he didn’t share was the fact that standards of care had vastly improved.  My brother never saw a cardiologist or pulmonologist.  We simply went to clinic every six months, they took down his data, and sent us on our way.  Nobody really sat down and explained the benefits of various treatments, or even the need to see certain specialists.  They didn’t know what they know now.  Today, my son sees necessary specialists regularly.  Heart issues were identified earlier, and this earlier intervention has helped his heart function improve significantly.  

With all this hope and improved standards of care, comes another type of fear...a very real fear that's seriously uncomfortable to talk about but crucial to plan for: "What if my son outlives both my husband and me?"  What will happen to Elijah?  There, I said it.  While we are still losing people with Duchenne early in life, many are surviving well beyond the years of the previous generation.  That is both incredibly uplifting, yet scary at the same time. 

While there are no approved treatments available to Elijah to treat his lack of dystrophin currently, there is hope.  We have more clinical trials happening than ever.  We have two FDA approved drugs for the treatment of Duchenne, with more on the way. Standards of care have drastically improved, leading to better quality of life than in the past.

My son regularly tells me:  "Mom, I'm not going to live with you forever!" Imagine that?  I can honestly say that at diagnosis, it would never have occurred to me.  I’ll admit--I was remembering the past and grieving, instead of being in the present and considering an alternative future.  While it’s important to remember our past, we don’t have to unpack our stuff and live there, right? Elijah has dreams for his future, and we encourage those aspirations.  He desires to hold a job and have his own apartment. 

My years of experience in social work have shown me that these things are entirely possible with the right supports.  Although the state and community you live in determines what is available, there are a variety of community services and supports to enable a person with a disability to live the life they deserve.  Resources like housing assistance, assistive technology resources, job support, and Medicaid waiver programs. Along with providing help with insurance issues, my job at Little Hercules Foundation is to connect individuals and families with these critical support systems.  I was recently asked why I chose to leave my career position to join this team, and my answer is quite simple: Assisting families like mine who live with Duchenne is where my heart is and always will be.

Read Amy's bio here. If you, or someone you know, needs help locating and accessing resources, please email me at amy@littleherculesfoundation.org.