Rare Community Profiles
Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.
CureDuchenne Clinic in Greater Dallas Area Aims to Improve Treatment Accessibility and Care for Underserved Families with DMD and BMD
Debra and Paul Miller started CureDuchenne in 2003, a global nonprofit to spur research into and find a cure for Duchenne muscular dystrophy (DMD), following their son’s diagnosis. In the twenty years since, CureDuchenne has contributed $25M into DMD research and funded 17 different research projects. The organization also supports and funds projects that meaningfully impact the DMD community, such as the opening of the CureDuchenne Clinic at the Neurology & Neuromuscular Care Center in Denton, TX.
Children with DMD are often diagnosed in early childhood, before their fifth birthday. These children also require lifelong care: physical and occupational therapy, symptom-relieving medications, respiratory therapy, mobility assistance, and more. As you might suspect, this need for specialty care can place an immense financial burden on families. CureDuchenne reports that a lack of insurance coverage is one of the most significant limiting factors for patients to access appropriate care.
To mitigate this and reduce the barrier to access, CureDuchenne granted $900,000 over three years to support the CureDuchenne Clinic at the Neurology & Neuromuscular Care Center, spearheaded by Dr. Diana Castro. Dr. Castro’s goal is to provide high-quality care to underserved and underinsured individuals with DMD and Becker muscular dystrophy (BMD) in the greater Dallas area. Given that Texas has the highest percentage of uninsured residents in the United States, and large racial disparities exist in insured rates, Dr. Castro’s mission is extremely meaningful. Of course, Dr. Castro also welcomes all insured patients and families to the clinic as well; her goal is to provide care for everyone who needs it.
Recently, Patient Worthy spoke with Dr. Castro, as well as Kerry Johnson, the Senior Director of Community Engagement at CureDuchenne, about how the CureDuchenne Clinic will fill unmet treatment needs and provide care, regardless of insurance coverage, to families in need.
A Brief Introduction of our Interviewees
Dr. Diana Castro originally hails from Colombia and studied medicine there before moving to the United States 20 years ago. She has lived in Texas for 15 years, 14 of which she spent in academia. Dr. Castro is a board-certified pediatric neurologist and neuromuscular physician and has assisted patients with a variety of conditions, such as DMD, myasthenia gravis (MG), spinal muscular atrophy (SMA), and acquired neuropathies. Dr. Castro left academia to create the Neurology & Neuromuscular Care Center, a nonprofit private practice for patients with neuromuscular conditions. She estimates that 30% of patients at her clinic do not have insurance coverage, with an additional 45% on Medicaid. She also created a research institute to perform clinical trials and research into conditions such as SMA, DMD, and Charcot-Marie-Tooth disease. When asked why working in the neuromuscular field appealed to her, Dr. Castro shares:
“I like the complexity of working in neuromuscular conditions. To me, taking the whole-body approach allows me to best help patients. So I can do that through neuromuscular conditions since they are so multisystemic. This is also a very fragile community, so I’m fulfilling my dreams of truly serving people.”
Kerry Johnson has worked in the DMD realm for around four years now. At CureDuchenne, Kerry works to support families, provide research and education, and connect families to one another in the community. Given the isolation that can often come alongside a rare disease diagnosis, this connectivity is essential in providing families with comfort and care. CureDuchenne wants to meet families at all junctures of their treatment journey. Another part of her role revolves around fostering and building relationships with biotech, pharma, and physicians; this is essential in ensuring that research into DMD moves forward and remains a priority at the forefront of company programs.
What is Duchenne Muscular Dystrophy (DMD)?
As Dr. Castro explains:
“Duchenne is a progressive genetic condition that affects the muscle and causes muscle weakness and wasting over the years. It mostly affects boys. Two thirds of the cases are inherited from the mother, which means they carry the genetic defect, though they can also have some symptoms.”
DMD is one of several forms of muscular dystrophy and is inherited in an X-linked recessive pattern. The gene mutation that causes DMD prevents the muscles from creating a protein called dystrophin that normally plays a role in muscle strength and function. This causes the muscles to weaken and waste away, which can lead to heart and respiratory damage. Symptoms of DMD may include progressive muscle weakness that begins in the legs, pelvis, and thighs; fatigue; difficulty walking and moving positions; frequent falling; a waddling gait; and large calf muscles.
Launching the Clinic
When Dr. Castro chose to leave her position at the university, she felt, at times, disenchanted by medicine. The institutions that she saw no longer served patients; patients were being seen fast, which isn’t adequate for those with complex medical needs. As Dr. Castro explains:
“All DMD patients need to see the neurologist, physical therapist, cardiologist and pulmonologist. Their appointments can last for hours. These are the visits that hospitals don’t like because, for them, it’s a ‘waste of money.’ But to me, that is medicine. That’s how we need to be helping people. Unfortunately, our healthcare system is moving very quickly in the other direction and that has consequences for patients. They’re going to keep coming back and not getting appropriate care, and that’s more expensive for them in the long run.”
The CureDuchenne Clinic at the Neurology & Neuromuscular Care Center currently offers cardiology care (echocardiograms, EEGs), neuromuscular care, physical therapy, nutritional counseling, and pulmonology. In the future, Dr. Castro hopes to employ an occupational therapist and gain access to additional technologies for patient care. The Clinic, in addition to providing care to underserved individuals, also aims to provide adequate treatment during the transition from childhood to adult care. Says Dr. Castro:
“It doesn’t matter how many treatments we can develop if we don’t have basic care from the ground up. This is especially true as people have much longer lifespans and, with gene therapy, could live into their 30s-70s. Treatments are nice, but we need to ensure that patients and carriers get the care they deserve.”
Dr. Castro and CureDuchenne have worked together in various capacities over the last few years. So, Kerry explains:
“When we heard that she was starting her own neuromuscular clinic, we immediately reached out to see what she was trying to do. CureDuchenne really aligned with her mission and saw how it filled a much-needed gap in the local community in Texas, whether serving the Hispanic community or underserved and underinsured individuals.”
The next step for CureDuchenne was determining how they could have the strongest impact in providing top-quality care—and landed on an important need: funding. Currently, the grant is set up for three years, but Kerry is confident that it will continue to evolve, sharing:
“What Dr. Castro is trying to do is nothing short of novel and a huge feat. If we can start here and make examples of how this care can work, and how it can be replicated, we’re going to create a world where people with DMD live full, meaningful, happy, whole lives.”
Managing the Transition Between Pediatric and Adult Care
There are many difficulties and complexities in the transition between pediatric and adult care. As explained in a paper in Global Pediatric Health, the authors note that obstacles to this transition include:
“inadequate planning, poor service coordination, lack of resources, and gaps in education and training. A survey revealed that the majority of general internists and pediatricians are not comfortable providing primary care for young adults with chronic illnesses of childhood origin…other factors identified are the physical and psychosocial developmental changes that accompany adolescence, some of which adult doctors may not be used to.”
The CureDuchenne Clinic seeks to smoothen this transition and provide continued, appropriate care from childhood into adulthood. Dr. Castro explains that, from the academic setting, she brought 69 patients with DMD to her new practice; these patients will continue with her until she retires, at which point she will have someone set up to replace her. The Clinic will manage this care through having both pediatric and adult pulmonology and cardiology teams; the neurologist, nutritionist, and physical therapist all manage both sectors of care. Says Kerry:
“With treatments, whether in preclinical studies or already approved, we are seeing an extension of life. Having a team that can bridge that gap and ensure continuity of care and consistency takes a huge burden off of families.”
Issues with Insurance
Throughout speaking with various patients and families, one thing I have heard repeatedly is how insurance issues and problems with coverage are some of the most difficult and overwhelming parts of managing a rare disease diagnosis. In some cases, insurance refuses to cover investigational or experimental treatments; in others, it may refuse based on the fact that a specific therapy or mobility aid isn’t “necessary.”
Dr. Castro also points out that certain insurances—such as Tricare and Medicaid—are often not accepted by a large majority of physicians or practices. It has already gotten in the way of patients receiving effective care. She shares:
“I have a patient who needs medicine for myasthenia gravis. Insurance approved one month of treatment but not what we need to administer the medication. I try to go through all of the insurances but many try to stop me from seeing the patient. It can be very limited. I’m not even sure if it’s better to have insurance sometimes. We’re trying to run research parallel to the clinic to get research funds, but we need all the help that we can get. Right now, we’re just eating the cost.”
The financial burden and struggles with insurance are also exceptionally hard on families with DMD because of the attention it requires. Kerry explains:
“To care for DMD means not just caring for physical ailments but social and emotional wellbeing, the ripple effect of how it affects the family, school, transportation. The impact of DMD is so deeply rooted in every part of these patients’ lives that the idea of doing one more phone call or facing one more insurance denial can be overwhelming. Some families may not be getting care because of this insurance struggle, but these kids deserve the care.”
Over time, there has been an increasing focus on the importance of providing mental, emotional, and psychological support to people within the rare disease community. Ideally, over the next 5-10 years, Dr. Castro would like to flesh out these offerings within the Clinic, employing at least one psychologist. Kerry says:
“Across the entire rare disease community, mental health support is lacking. But I’m seeing this moving into the main conversation. CureDuchenne is trying to provide resources and stay up-to-date on family needs. Even just connecting families to one another provides support. We look forward to working with Dr. Castro on how to creatively help families.”
Why We Continue Down This Path
The ability to genuinely help others drives both Kerry and Dr. Castro. But more than anything, both are drawn to the opportunity to raise awareness, and garner support, for the families within the DMD community. Shares Kerry:
“It’s been incredibly inspiring, and almost wild, to see the progress within this community over the last four years. We are hurdling rapidly towards a cure for this disease and transformative therapies, but our obstacle is funding. We have the opportunity, technology, science, and resources. Now is the time to get involved.”
If you decide to get involved with CureDuchenne or any other form of advocacy, just know that you are helping to amplify these families’ stories. In the end, Dr. Castro says:
“I want to make sure that people hear about Duchenne muscular dystrophy. These families have stories that need to be told. How can we help? By making a difference and opening eyes. Understanding what these families go through helps you to see life differently. You see that your little issue today is not a huge deal. You learn to value your life more, your family, everything. These families are amazing and I will continue fighting for them every step of the way.”
Twenty years ago, CureDuchenne was created with one goal: to find and fund a cure for Duchenne muscular dystrophy, the leading genetic killer of young boys. Today, CureDuchenne is recognized as a global leader in research, patient care, and innovation for improving and extending the lives of those with Duchenne. CureDuchenne’s innovative venture philanthropy model has advanced transformative treatments for Duchenne muscular dystrophy, including 17 projects that advanced to human clinical trials and multiple projects to overcome the limitations of exon-skipping and gene therapy. In addition, CureDuchenne contributed early funding to the first FDA-approved Duchenne drug, pioneered the first and only Duchenne physical and occupational therapist certification program and created an innovative biobank and data registry, accelerating research toward a cure. For more information on how to help raise awareness and funds needed for research, please visit https://www.cureduchenne.org/.