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.

From the Virtual Fun Run & Walk to Mental Health Support: How Jack Johnson of FSIG is Working to Improve the Lives of All People with Fabry Disease

Each year, April marks Fabry Disease Awareness Month. Though April has now passed, Jack Johnson remains committed to raising awareness in every way he can. After all, as Founder and Executive Director of the Fabry Support & Information Group (FSIG), Jack hopes to advocate for research, community needs, and treatments through education and community support.

Jack deeply understands the obstacles faced by those living with Fabry disease. He was born into a family with an extensive history of the illness—his grandfather, mother, and aunts all lived with it—and saw the crippling effects of Fabry disease before treatments became available. When Jack was four years old, his mother noticed that he didn’t sweat, which is one of the telltale symptoms. His official diagnosis came at age seven and, soon after, the pain crises that prevented him from playing sports and being a ‘normal’ kid appeared as well.

His history and lived experience eventually drove Jack to create meaningful change and work towards improving the lives of all people with Fabry disease. In his discussion with Patient Worthy, he shares why this mission is so meaningful and provides more information on fundraising and awareness events like the Virtual Fun Run & Walk; the 10th annual Virtual Fun Run & Walk just took place at the end of April!

Founding the FSIG

At the time of Jack’s diagnosis, there was little to offer in terms of treatment or support. The burden of care was left largely to families. The Johnson family avoided any extreme temperatures, took cold showers, reduced strenuous activity, and turned to necessary medications for pain as needed. As GI issues appeared, and mini strokes later in life, the family had to adjust.

But as Jack entered adulthood, he began questioning how he could apply his lived experience in a way that would make a difference. He chose to become involved in advocacy and rare disease awareness efforts to broaden the understanding of Fabry disease.

“I started by enrolling in clinical trials and working with my mother to utilize our family’s genealogy research to see how many of our ancestors were affected. After seeing our efforts, one of my doctors suggested that I establish a support group for other patients and families. It began in 1996 as a small, kitchen table-based support group and eventually developed into the FSIG, the country’s leading Fabry disease advocacy organization.

Since the organization began, thousands of individuals have gotten involved with and been helped by our cause. I’m proud that we have inspired others to reach out to their own communities to build broader awareness of Fabry disease. These efforts have resulted in more people getting diagnosed and treated. It’s amazing to know that our work has saved lives.”

Unfortunately, the community has faced some loss along the way; both Jack’s grandfather and mother passed away due to Fabry disease complications. Yet this loss only fuels Jack’s drive to continue working towards a world where nobody else with Fabry disease will have to suffer. Where misdiagnoses are uncommon, and treatments are readily available. And where every person and family no longer has to feel isolated, a feeling that so often comes alongside a rare disease diagnosis. Shares Jack:

“Many of the patients I meet through the FSIG have never met someone else with the condition before. It is very fulfilling to see their reactions when they realize they aren’t alone.”

Virtual Fun Run & Walk 2023

The 10th Annual Virtual Fun Run & Walk took place nationwide from April 22-29, 2023. This event is held as part of the FSIG’s commemoration of Fabry Disease Awareness Month. Jack says:

“Our goal is to build broader awareness of Fabry disease and raise funds to help provide financial assistance to patients and their families. During the event, participants are encouraged to complete a one-mile jog or walk in their local neighborhoods to raise awareness, honor families impacted by Fabry disease and remember those who have passed away due to the disease. Participants are also encouraged to post photos of their run or walk using the hashtag #RunningforFabry.”

Participants’ registration fees and funds raised from the event are being used to support the “Rapid Assistance Fund supporT” (RAFT) program, which Jack explains:

“provides short-term financial assistance to patients in order to help them get transportation to Fabry support meetings, pay for childcare during their treatments or doctors appointments, and provide testing, communication devices and cooling vests (the disease causes an inability to sweat) to patients.”

Outside of raising these funds, which can be incredibly valuable for families (especially given the heavy financial costs of a rare disease diagnosis), Jack believes that the importance of the event also lies in its connectivity. No matter where in the world they are, participants can come together in a joint effort to make a change. They step up to recognize what can be an invisible and devastating chronic condition, and in the process, inspire hope.

If you missed the Virtual Fun Run & Walk this year, don’t fret—there’s always next year! In the meantime, consider attending educational Fabry community events online or in-person to connect with others like yourself. The FSIG offers a number of regional meetings including a young adult roundtable (the first is taking place next month) as well as the Fabry Women’s Summit; while only one Summit has happened so far, it serves to meaningfully unite women in this community.

What is Fabry Disease?

Fabry disease is a rare genetic storage disorder. Genetic mutations cause a deficiency of an enzyme called alpha galactosidase-A. Normally, this enzyme breaks down a type of lipid (fat) called globotriaosylceramide. In Fabry disease, this fat accumulates in the cells and can cause a number of symptoms relating to the skin, nervous system, heart, brain, and kidneys. An estimated 1 in every 40,000 people has Fabry disease. In the past, most medical textbooks and research have considered Fabry disease to be a condition that almost solely affects males, with women only as carriers/asymptomatic. Jack says:

“I want to address this misconception that Fabry disease does not impact women. Until recently, the medical community believed that X chromosome-linked diseases did not affect women severely or at all. But women with Fabry disease can experience symptoms and effects that are devastating and potentially life-limiting. Many women with Fabry disease, including my mother, lived for years without being accurately diagnosed or provided with treatment. I hope that the FSIG’s work helps dispel this myth.”

Signs and Symptoms

Signs and symptoms of Fabry disease often appear during childhood, but may be missed. Potential symptoms may include:

• Pain and burning sensations in the hands and feet
• Tinnitus (ringing in the ears)
• Anhydrosis (reduced ability to sweat)
• Dull, cloudy vision (Fabry cataract)
• Hearing loss
• Abdominal discomfort
• Fatigue
• Nausea and vomiting
• Corneal dystrophy
• Joint and back pain
• A dark, spotty skin rash (angiokeratomas)
• Mitral valve prolapse
• Kidney, heart, or neurological damage (symptoms relating to this may appear between 30-45)
• Heart disease
• Stroke

Jack explains:

“Fabry disease can be different for everyone, even people in the same family. It can express itself on a spectrum from no outward signs to full-blown disease. This is especially true in females. All ages can be impacted and signs and symptoms can change over time.”

Managing Fabry Disease

Jack also notes that individuals living with Fabry disease most often require multimodal treatment support. He explains that disease-specific treatments like enzyme replacement therapy (ERT) are available, but symptom-specific treatment is also often needed. Jack undergoes ERT every two weeks; a nurse visits his office to administer the infusion, which he describes as “time-consuming.” He explains that he is lucky, as many people have to travel to hospitals to receive treatment. Despite ERT, Jack says:

“I still deal with potentially life-threatening complications of Fabry disease, including heart problems and strokes, so I have to work with medical specialists regularly. I still experience periods of pain and pain crisis. Fatigue, heat intolerance, certain GI issues, and poor balance are frequent problems. I also lost my hearing and depend on cochlear implants and a pacemaker because of Fabry disease complications. This is why I raise awareness. Only through improved awareness and knowledge can we work towards better treatment and quality-of-life.”

Many individuals experience depression, which adds an additional burden to quality-of-life. Says Jack:

“Managing depression or other mental or emotional challenges should be included in a disease treatment plan. Additionally, Fabry can have an impact on caregivers and other family members, so it’s also important to take their physical and mental health into account.”

When it comes to managing Fabry disease in the best way possible, Jack leaves everyone with one final piece of advice:

“Learn as much as you can about Fabry disease and how it is impacting you or a loved one. This will allow you to become your own best advocate and play a valuable part in your care team.”

Learn more about the Fabry Support & Information Group and how you can get involved to further the mission and improve the lives of people with Fabry disease across the world.