My experience living with Fabry disease

by Sandra
(Rindge, NH)


Hello, my name is Sandra.

Twelve years ago an optometrist noticed a hazy, swirling appearance in my grandmother’s eye during a routine checkup.

That discovery eventually helped to explain my family’s painful history of health problems. I had already lost two uncles to kidney failure, but doctors were unable to diagnose why.

The swirl in my grandmother’s cornea provided the answer.

Corneal swirl is a common sign of Fabry Disease, an inherited disorder that causes a deficiency in an enzyme called alpha-galactosidase A or alpha-GAL. This enzyme works to remove GL-3 from the body - a natural substance made of sugar and fat. Without enough of this enzyme, GL-3 builds up in cells throughout the body.

This can lead to symptoms ranging from burning and itching in the hands and feet to severe kidney problems, including kidney failure.

Once my grandmother was diagnosed, doctors urged all of the members of my family to be tested. These tests showed that five out of nine of us had inherited Fabry, including myself and my son and daughter. I wasn’t too surprised by my diagnosis – for many years I had a feeling that my health was not right. I was constantly fatigued and had developed a burning sensation in my hands and feet that did not go away.

Fortunately for me and my family, our diagnosis came after a treatment was developed for Fabry disease. The therapy, known as Fabrazyme®, replaces the enzyme that is missing in my body. After a few years of treatment, my energy level improved and the burning sensation eased.

I’m now focused on building a life and planning for a future for my children. My grandmother’s trip to the optometrist may have saved our lives – and for my son, who was only six months old when he was diagnosed, early treatment could play a key role in limiting symptoms and delaying disease progression.

Today taking care of our health is a true family activity. Twice each month I take my son and daughter to a pediatric treatment center more than an hour away. They have to miss school, but we try to make the time fun as they spend an hour having an infusion with enzyme replacement therapy. Then we make the trip back home to rest and rejuvenate.

Finding the right support has been so important and helpful for us. My daughter struggled at school because she had to miss class so often. We switched to a public school that is much better able to accommodate her special needs, whether it’s the extra effort to help her catch up with missed class work or a gym teacher who recognizes when she needs to take a break.

Even with so much support, we find that having a rare disease that few people have ever heard of can be isolating. It’s my hope to start a support group within my community to help more people to get the support and encouragement they need to face Fabry disease.

I also want to help more people learn about the resources that can help, including web sites like http://fabrycommunity.com/ that contain vital information about the impact of Fabry.

It’s important because there are so many people who might be living with Fabry but are not diagnosed and are suffering even though treatment is available.

We were lucky, because an eye exam helped to identify a dangerous disease in our family. I don’t want other families to have to depend on luck to get the help they need.

Best Wishes, Sandra

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