Finding Fabry: How One Diagnosis Can Save an Entire Family

March 28, 2017

April is National Fabry Disease Awareness Month

Jack Johnson got a lucky start in life thanks to a small town doctor in Missouri who treated his grandfather.

“My grandfather was one of nine children,” says Jack. He started going into kidney failure when Jack was just one-year-old. Curiously, the doctor couldn’t pin the kidney problems on any of the more obvious causes. He had to look deeper—and when he did, he found Fabry.

According the Fabry Support and Information Group– which Jack, now Executive Director, founded along with a few of his affected family members over 21 years ago- Fabry is described as a disease resulting from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme alpha galactosidase A, which is normally responsible for the breakdown of globotriaosylceramide.

Like Jack’s grandfather, many patients don’t even know they have the disease until it begins to cause kidney failure. Because of that doctor’s quick thinking and tenacity to keep looking for an answer—he helped to diagnose not only Jack but four of his five brothers and three of his four sisters.

A team of doctors from Missouri State University came to their family home and took blood tests. At first they told the women not to worry, that this disease was only found in men.

“Well, we know that’s a myth now,” says Jack. “Women can suffer from Fabry just as easily as men can.”

And it’s important to track each diagnosis. Women have a 50/50 chance of passing the gene down to their children.

“I’m 53 and for a patient my age, for me to have known most of my life that I have this disease is pretty rare,” says Jack. He didn’t begin showing symptoms until around four-years-old. “My mother realized that I never sweat, and I had also started to experience some of the gastrointestinal symptoms of the disease as a child,” says Jack. 

Heat intolerance and kidney failure are just the start of a laundry list of symptoms associated with Fabry. It can cause opacity to the eyes, chronic pain, ventricular atrophy and mitrovalve prolapse, heart arrhythmias, palpitations, exercise intolerance, and fatigue is also a big problem.

“When a normal person goes out and exercises their diastolic and systolic blood pressures will both rise, so their overall blood pressure will rise. Where with Fabry, the systolic pressure will rise, but the diastolic pressure may not rise or in some cases may decrease a little. So the overall blood pressure doesn’t rise and can actually drop somewhat. So that causes exercise tolerant.”

You may recognize that many of these symptoms mimic other diseases like fibromyalgia, chronic fatigue, and dysautonomia. For this reason, getting the right diagnosis can be a challenge.

“[Misdiagnosis] is a common theme coming from our patients,” says Jack. “One of the drug companies had done a study on it and they had found that it takes the average patient 10 or more years, with a different specialist every year, before they get a correct diagnosis. And in the meantime, these patients are being treated for diseases they don’t have.”

Executive Director of, Jack Johnson

For those who do get a diagnosis, an early start to treatment is recommended.

“We do have treatment, and getting treatment early makes a big difference. The disease is caused by an enzyme deficiency, so they have artificial technology, Sanofi-Genzyme has produced a replacement for the missing enzyme and patients can get infusions of that once every few weeks. And they found that if you start treatment early enough, you could preserve kidney function.”

For those who don’t get treatment in time? A kidney transplant may be their only hope. However, they won’t have to worry about the reoccurrence of disease in the new organ since it will produce it’s own enzymes as opposed to the defective one it replaced.

The Fabry Support and Information Group is doing their best to assist the over 1500 patients world-wide with this rare disease. Beyond offering valuable information on how the disease works, what doctors are doing to treat it, and reporting on new research—the organization also offers services like Rapid Assistance Fund Support, or RAFTS. RAFTS provides short-term relief for newly diagnosed patients struggling to find adequate treatment. They also assist patients with life saving cooling vests—and in some cases have even paid for air conditioning units for patients whose need for temperature control isn’t a luxury but a basic necessity of life.

To learn more about Fabry and how you can help patients in need please visit the National Fabry Disease Foundation.


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