What if you had an inherited disorder that caused a fat called globotriaosylceramide to build up in your cells?
Chances are pretty good that you’d be diagnosed with Fabry disease, a lysosomal storage disorder.
Symptoms include pain in the hands and feet, skin discoloration, difficulty perspiring, and corneal cloudiness. And if that doesn’t sound like enough, people with Fabry can also develop gastrointestinal problems, kidney damage, and heart disease.
Fabry affects one in every 40,000 to 60,000 males. While females can have Fabry disease, it’s much less common. The onset of Fabry usually occurs in childhood, but others may not notice symptoms until they are older.
Today, it’s possible to diagnose this disorder very early in a person’s life—and the earlier treatment begins, the better the outcome.
Newborn screening, which encompasses dozens of genetic disorders and diseases, has joined the mainstream. And if, by chance, your baby is diagnosed with Fabry, the National Fabry Disease Foundation is a wonderful resource where you can connect with other patients, learn about the disease, and discover opportunities for getting involved in the community.
Hope is on the horizon, however.
A drug called migalastat has been recommended for use in the European Union. It’s the first oral treatment to come to market. Currently, the only treatments available for Fabry are enzyme replacement therapies, so an oral treatment option is a welcome addition, offering Fabry patients a more convenient means of administering their medication.
This new treatment still has one more hurdle to jump before becoming available, but scientists and researchers are optimistic that migalastat will make a difference in the lives of quite a few people.
