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