Duchenne Muscular Dystrophy – fighting for what’s right

My Story

My sons were diagnosed with Duchenne muscular dystrophy (DMD) when attending a parochial school in our community. This wasn’t our first family diagnosis of a chronic health condition, their older sister has Type I diabetes, yet it was the most serious.

DMD is a life limiting muscle wasting condition that robs an individual of all physical ability, beginning with walking. My wife and I wanted our sons to continue attending the parochial school with their sister, yet were aware that there was no legal requirement for the administrators to make the older building accessible. As we learned to cope with the reality of our sons’ condition, and understand the science and their clinical needs, we simultaneously developed a strategy to put together a fund raiser that might purchase a wheelchair lift, allowing the boys continued access to the school. Staying busy helped us to crawl out of the darkness that enveloped us due to their diagnosis.

After obtaining permission to pursue a fund raiser from the Diocese, we worked with volunteers to meet a financial goal. As we neared that goal, diocesan administrators feared the plan allowing disabled children to attend the school would lead to unrealistic obligations and jeopardize their ability to keep the school financially sound. Instead, they reneged on their agreement to allow a lift to be installed and refused to reenroll my older son due to his physical condition.

Devastated by this action, we appealed the decision and sought reasonable alternatives. When that failed, my wife and I filed a Civil Rights complaint with the Maine Human Rights Commission. After a lengthy fact finding and testimony period the Commission met to review the case and ruled the Diocese’s decisions effectively violated my son’s civil rights. We eventually settled with the Diocese, in part obtaining a non-discrimination policy for all their programs.

The entire incident transpired over two years, yet seemed much longer at the time. This sparked my interest in understanding the laws that protect people with disabilities. I pursued what seemed a calling in advocacy and assisting others to navigate programs to help children living with the same condition as our sons.

I got involved with a DMD specific advocacy organization that hosted annual conferences to inform families about many aspects related to managing the condition, understanding research strategies and learning about Special Education and state insurance programs their child might need. Attending the conferences was empowering and gave me a sense of community. My sons’ condition is a Rare Disease and there were few people in my community who knew about the disorder or what services or supports my sons needed. My involvement expanded with participating in breakout sessions at the conference to share my experiences in obtaining Special Education services for my sons and explaining how Medicaid Waiver programs worked, including how to apply and finding resources that explained a state’s eligibility criteria. I began helping other families develop their advocacy skills and worked with many, helping them navigate their state’s Medicaid programs and what services and supports to consider when seeking Special Education for their child.

Beginning in 2001, the DMD organization initiated an annual legislative conference focused on coordinating federal research programs and increasing the funding for the muscular dystrophies. Families from across the United States traveled to Washington, DC and met with their Members of Congress or their staff to explain the need in harnessing research at the National Institutes of Health (NIH) as well as requesting financial support for programs to learn more about DMD undertaken by the Centers for Disease Control and Prevention (CDC). This led to legislation that established collaborative muscular dystrophy research centers of excellence funded by the NIH and epidemiological and surveillance research conducted by the CDC.

I worked to develop strong relationships with my state’s US Senators and Representatives and their staff. When advocacy organizations worried about the pace for establishing the centers of excellence, a meeting was scheduled with NIH program directors, the Senators who sponsored the legislation and parent advocates, I was invited to speak about the potential impact for my family. I talked about my sons’ conditions and my hope that future research would bring treatments that preserved physical ability and survival for patients. My testimony was well received and I was invited to serve as the sole public member of a steering committee for the newly established Muscular Dystrophy Centers of Excellence. I served in this role for 7 years before taking a seat on the Muscular Dystrophy Coordinating Committee. In this role I worked with other muscular dystrophy advocates and representatives of federal agencies which funded research and programs that supported people with these conditions. My participation ended after serving two consecutive 3 year terms.

Ten years before my sons’ diagnosis, the gene responsible for their form of muscular dystrophy had been identified, yet little research was being done to address the condition. Treatment at major hospitals outside of our state were developing integrated clinic programs with more aggressive options than available locally. Clinic directors at these same centers began partnering with drug developers. Participating in clinical trials that advanced the understanding of the condition and potentially led to new therapies became our next phase of advocacy. My wife and I encouraged our sons to consider trials in which they met the enrollment criteria. We explained the limitations and risks. In time, I was taking my sons to studies at academic and medical centers running trials for new therapies, repurposing approved medications and identifying new ways to monitor disease progression in patients. I soon learned about drug development and the approvals process to bring new therapies from the bench to bedside.

Other examples of how roles my advocacy led to help the DMD community include participating in a US Food and Drug Administration meeting regarding disease specific outcome measures and an ethics meeting regarding the use of medical ports during clinical trials in which some patients would receive weekly IV infusions, including placebo. During the FDA review for the approval of products in clinical trial for DMD, I attended and spoke during the Open Public Hearing session during two advisory committee meetings. Two years ago, I was invited by the Institute for Clinical and Economic Research (ICER) to testify in regards to recently approved treatments for DMD that were approved under the FDA’s accelerated approvals process. I am grateful for these opportunities to share my opinion in regards to my family’s experiences. Ultimately, being involved allowed me to share our story and work towards improving people’s insights of what life is like with DMD as a way to help them understand the outcomes patients and families seek.