Jack Johnson was diagnosed with Fabry disease when he was just seven years old. He likes to compare living with the rare disease to long COVID, but unlike long COVID, Fabry is a genetic disease. From genealogy and family anecdotes, Jack traced back his family’s history with the disorder five generations. Recently, Jack helped coordinate a Patient-Focused Drug Development meeting with the US Food and Drug Administration, where he and others affected by Fabry disease talked to agency officials about their experiences as patients and how treatment needs to improve.

About Fabry Disease

Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing certain sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve, heart size and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.

Advocating For The Patient Community

Jack came away from the FDA meeting with an optimistic outlook:

“It was a great opportunity to have the FDA engage so intently with the Fabry community.” – Jack

He notes that a treatment for Fabry disease has been available in the US for nearly 20 years. However, not all patients respond well to it and there is still a significant unmet need for Fabry disease.

“There’s a lot of issues but it’s a very exciting time with a lot of interest in Fabry at the moment. We felt it would be a good time to send this message to the FDA.”

Jack believes that the most important factors for patients are the day to day challenges of the disease, such as fatigue, inability to sweat, digestive issues, and chronic, burning pain. Available therapies can slow disease progression, but they don’t necessarily address all of the symptoms.

Jack’s mother began to wonder if he had the disease around age four, because he wouldn’t sweat. By age seven, Jack was officially diagnosed and began experiencing burning pain in his hands and feet after exercise. Pain symptoms continued to prolong and progress over the years, severely interfering with his quality of life.

“Over the years, I’ve had lots of problems with it…I’ve had to go to the emergency room to seek pain relief.”

26 years ago, Jack decided to start a support and advocacy organization for patients called Fabry Support & Information Group (FSIG). Over the years, the group continued to expand and now Jack helps operate the group full time, along with a small staff. Jack has continued to struggle with his symptoms, however:

“I’ve also had a couple of strokes, fortunately they were not significant. With physical therapy, I was able to pretty much come back from both of those.”

The organization has worked hard over the years to spread information and awareness to patients, physicians, scientists, and drug companies. The group was also involved with the first Fabry disease clinical trials and others since then.

An oral treatment formulation became available in 2018, and a new enzyme replacement therapy is also in development that might be approved before too long. Multiple companies are also working on a gene therapy for Fabry disease, making this an interesting time for the community indeed.

Jack points out that it’s important to realize that while the illness is X-linked, many women will still experience symptoms:

“Much of the old literature said that women would not suffer, but we know now that about 80 percent of women will have disease involvement…many of them have pretty significant disease.”

He also emphasizes the importance of prompt and early diagnosis and treatment.