Fabry Disease

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Raising More Than Money: The Importance of Fundraising Events for the Fabry Disease Community

Part 1 of 2 It can be a confusing, emotional, and isolating experience when someone is diagnosed with a rare disease, including for their family members and loved ones. While an accurate diagnosis may bring some sense of relief by identifying the cause of symptoms – something that can take many months or even years in the rare disease community – it also often introduces many questions and challenges and is just the start of a lifelong journey. Given the very nature of rare diseases, there is often limited information and support available for patients, their families and caregivers who are also impacted. As a result, many patient advocacy groups have been established to serve as a support system for people affected by a certain rare disease, including helpful disease information, lifestyle tips, personal testimonials, financial support services, and support for clinical research. As the co-founder of an advocacy group in Fabry disease, called the Fabry Support & Information Group (FSIG), I have learned over the years that these types of services are critical for people impacted by rare diseases. It can make people feel like they have a lifeline and are not alone. Fundraising events have also become a popular way to raise money for these types of organizations to help expand their services and reach. Many of these events have grown into something more important than simply raising money because they are opportunities for people to share their stories and educate their communities about their disease.

As part of the fifth generation of my family to live with Fabry disease, I know the importance and impact of having a support system in place. My family was able to discuss our experiences and challenges regularly with each other. Before treatments were available, we also shared tips and tricks for managing symptoms, such as taking cold showers, avoiding extreme temperatures, and taking anti-seizure and pain medications when needed. Symptoms of Fabry disease can include an inability to sweat, gastrointestinal difficulties, kidney damage, heart abnormalities, strokes and chronic pain. Eventually, my symptoms became so crippling that I could not exercise, play sports or carry on my family’s farming business due to the physical demands. The effects of Fabry disease, like many other rare diseases, are devastating, but it was comforting to know that others in my family could listen to me and understand my experiences.

I cannot imagine what this is like for others who do not have that support system in their lives. Others deserve to feel the sense of camaraderie that I had with my relatives. In 1996, I co-founded FSIG as a national source of information and resources for people affected by Fabry disease.

FSIG was initially created as a kitchen table support group, but I’m proud to say it has grown into a leading U.S. Fabry disease advocacy organization. From the beginning, our mission has been to build broader awareness of Fabry disease and the significant need for access to effective treatment options. It is incredible that there are now several different approved treatments, with one recently approved in both the U.S. and European Union in May 2023. We are also focused on creating a safe and open community where people can connect to discuss any challenges they are facing or share information that might help others. We work hard to provide educational materials about how to best manage Fabry disease and support from a physical, emotional or financial perspective. We host in-person and virtual gatherings across the country to help foster connection among patients and families, and these events are often the most rewarding.

Since FSIG was founded more than 20 years ago, we have participated in and hosted many events that I am proud of, but the one closest to my heart is our Annual FSIG Fun Run & Walk. Every April, we recognize Fabry Disease Awareness Month with this event where people are encouraged to take a one mile walk or jog in their neighborhood and share photos online using the hashtag #RunningForFabry. Although this event takes place virtually to allow anyone across the country to participate, it has been extremely powerful and rewarding. This year marked our 10th annual event and involved almost 100 participants and raised nearly $10,000. The money raised from the Fun Run & Walk supports FSIG’s “Rapid Assistance Fund supporT” (RAFT) program, which provides short-term financial assistance to patients requiring transportation to Fabry disease support meetings, childcare during treatments or doctor appointments, diagnostic and genetic testing, communication devices and cooling vests.

The financial resources generated by the Fun Run & Walk are very important to the Fabry community, but the broader impact of the event is invaluable. Participants can use the event as an opportunity to in


Raising More Than Money: The Importance of Fundraising Events for the Fabry Disease Community

Part 2 of 2 vite members of their local communities to participate and learn about Fabry disease and the significant burden it often has on patients and families. For some of these participants, “Fabry disease” was a term they never heard before the event. They can also feel more connected to others across the country and feel a sense of community, strength and empowerment, and build important bonds with each other.

The Fun Run & Walk, as well as other rare disease awareness events, also present an opportunity for participants to reflect and remember loved ones who may have passed away due to their disease. Every year, I dedicate my run or walk to my grandfather, mother, aunt and other extended family members who passed away due to complications of Fabry disease. Many of them did not live past their early 50’s. But I am thankful for their efforts to educate and build awareness of Fabry disease, and the efforts of others including those pioneering clinical research, who made it possible for me to be where I am today. I recently celebrated my 60th birthday, an incredible feat and something that once seemed impossible, and am looking forward to many more years ahead.

As someone living with a rare disease and an advocate for others like me, one of my greatest joys is seeing people with Fabry disease meet others who are impacted by the disease for the first time. I hope that by continuing our work at FSIG including hosting more events like the Fun Run & Walk, we can foster more of these connections in the future and Fabry disease will become more well known and reaching an accurate diagnosis will become quicker and easier so people can start their path to treatment as soon as possible. There still may be many challenges ahead, but with the support of FSIG and the broader Fabry disease community, I know that we will be able to keep making a difference.


How a Fifth Generation Fabry Disease Patient is Increasing Access to Newborn Genetic Screening

Part 1 of 2 I have been dealing with the effects of Fabry disease since 1967. I was four years old and my mother noticed that I did not sweat at all. At seven I also began to experience bouts of pain in my hands and feet (which would continue throughout my life). At one doctor’s visit at UCLA, I was told what my mother had already suspected – I had Fabry disease. We knew what my life would probably look like due to our family history.

Fabry disease is a rare inherited disorder caused by mutations in the α-galactosidase A (GLA) gene, resulting in a deficiency of an enzyme that is responsible for the breakdown of a fatty lipid in the body. The genetic mutations are inherited from the X chromosome of a parent, so multiple family members can have the disease. Early signs of the disease typically start during childhood or adolescence.

Fabry disease can impact different people in different ways, but generally it affects many organs including the heart, kidney, and nervous system, resulting in potentially life-threatening complications and a reduced life expectancy. Fabry disease occurs in one in every 40,000 to 60,000 people worldwide. Misdiagnoses are common due to the rarity of the disease and because the multisystemic signs and symptoms can overlap with those from many other, often more common conditions. Diagnosis is also challenging because the age of disease onset and level of disease severity often vary.

In my case, Fabry disease first presented itself with recurring and excruciating episodes of pain, which would often knock me off my feet for up to four days at a time. Treatments for the disease would not become available until the early 2000s, so at the time my doctors did their best to help manage my symptoms with anti-seizure medications and strong pain relievers. I would take cold baths throughout the day to combat my inability to sweat, but eventually this would not be enough. It got to a point where I could not exercise, play sports or carry on my family’s farming business as it was physically demanding and required spending hours outside in the sun.

I remember as a young boy seeing my grandfather suffer from what I now know were many symptoms of Fabry disease. He passed away from kidney failure at age 53. He was one of five boys in his family – four of them had Fabry disease and none lived much past the age of 53. My grandfather also passed the disease on to my mother and three of her sisters. My mother lost her battle with Fabry at age 78 after experiencing years of debilitating heart complications and her youngest sister passed away several years prior due to other complications caused by the condition. Her two remaining sisters are still living but one is also suffering from challenging heart issues. One of my cousins has three daughters, all of whom have Fabry, and one of them has children including one son with the disease. I have one brother and one sister but neither of them are affected. I have two sons and luckily, they do not have Fabry; the disease dies with me.

After listening to family stories and due to an uncle researching our genealogy, I have traced Fabry disease back five generations in my family. Our knowledge of the disease has enabled us to be diagnosed often earlier and faster than others. In a way, we are the lucky ones. Most people are not aware of Fabry disease and can wait years for an accurate diagnosis. There are no cures for Fabry disease but starting treatment early may help slow its progression and early diagnosis is key. Identifying people with Fabry disease in a timely manner can help them get ahead of its progress and symptoms. One study found that once a person is diagnosed with Fabry disease, genetic testing can typically identify five or more family members who also have it.

As the co-founder and executive director of the fabry.org (FSIG), the leading national advocacy organization for Fabry patients, caregivers and families, part of my mission is to increase the availability of newborn genetic screening in the U.S. I helped my home state of Missouri become the first U.S. state to offer newborn screening for a range of lysosomal storage disorders including Fabry. This was no easy feat, considering many were skeptical at the time of what the screening panel might be used for and perceived risks to patient privacy that we were able to successfully address.

In September, which was Newborn Screening Awareness Month, I spoke with the FDA in an Externally Led Patient-Focused Drug Development (EL-PFDD) meeting to increase education about the burden of Fabry and the necessity for additional therapies to address continuing unmet medical needs.

Misdiagnosis is a key challenge with #FabryDisease. There are a lot of people out there



How a Fifth Generation Fabry Disease Patient is Increasing Access to Newborn Genetic Screening

Part 2 of 2 who have the condition and do not know it – especially women. Given Fabry is an X-linked disease, it is historically viewed by many people, including some physicians, as a “men’s disease.” But it can affect anyone. There are opportunities to expand access to newborn screening to help more people get diagnosed younger in life and start treatment as early as possible.