"Fabry disease has imposed a long history of pain and sorrow in our family.  For me it began with pain. About the age of five I can remember laying on the couch crying from pain in my legs. My mother would comfort me with warm towels and assurances that it was just growing pains, that would go away.  It lasted for several years with little relief. Slowly it did go away, following the pattern my mother said it would.  We did not consult a doctor since this was a 'normal' part of life.

I also became acutely aware of my missing grandpa.  My mother used to sing a song about how wonderful he was and how she missed him.  He had died when my mother was only ten years old from complications of an unknown disease.

I remember listening to the family stories about his suffering and constant pain. They lived on a dairy in Texas and when it was hot, they laid their gunny sacks on him in the barn to keep him cool. He could not stand the heat to do the dairy work so he got a job driving a model T truck as a delivery man between Houston and Galveston. The breeze from driving helped him get through the hot days of the year. His wife carried the responsibility of working the dairy. My mother, the first-born child was responsible for watching her siblings very early in life. By the time she was ten, she was experienced in childcare.

“Despite having consulted many doctors looking for a miracle cure, grandpa died at the age of 38 leaving his destitute wife, four children and another child on the way. No one knew why he had suffered so much.”

As I grew up, I was often around my mother and aunts in the kitchen as they talked about family matters. All three women had inherited the Fabry gene unknowingly. In our family, shared symptoms did not raise any alarm that something was terribly wrong. Conversations about home cures for chronic constipation and chest pains were common. How to handle the cold and heat intolerance were compared. They laughed at their eye doctors who wanted to take pictures of the corneal whorls in the eyes of all the women. No ophthalmologist had mentioned any health concerns related to the corneal whorls, just that they were unusual. 

I observed my mother’s decline in health along with her sisters. The tears they shared from the fatigue and desperation of wanting to keep up with the basic life chores tore at my heart. I became my mother’s caretaker and helper as a young adult. All the sisters had enlarged hearts and began having strokes before they were 60. 

In the late 1970’s, I was working in the medical field with access to a large medical library. I began to do my own research in to what had caused my grandpa’s early death. His inability to sweat and chronic pain were clues to his disease. Also the corneal whorls found in the women lead me to discover the name of a rare disease, Fabry, that I became suspicious was our problem. However, when I asked any doctor, they said all women are just carriers of Fabry and I should not worry about it. 

I became a mother of two daughters, one of which inherited my Fabry gene. I watched her experience leg pain and I remembered my mother’s words of wisdom and repeated it to my little girl. I mentioned the corneal whorls to eye doctors and my daughter had them also. I knew in my heart she had inherited the gene, but as usual, the doctors either did not believe me, or they congratulated me on how lucky my child was to be a girl.

“It was not until 2016 that I met a doctor who believed my own research enough to run a blood test to confirm my self-diagnosis of Fabry. By that time, my mother and her sisters had already died from strokes, heart disease and dementia.”

We had retired to live on a sailboat in the Eastern Caribbean. To be diagnosed with Fabry began my journey into Enzyme Replacement Therapy (ERT). That meant giving up our lifestyle, moving off our boat and becoming a stationary land dweller. ERT infusions every two weeks were an anchor to our life we did not want. Our calendar became cluttered with doctor visits instead of adventures. 

I was just fortunate I had paid for health insurance consistently over the years. Therefore, I could not be denied coverage for the expensive treatments that could have ruined us financially. My husband learned to give me my infusions himself which gave us more freedom to travel in and RV. Yet the freedom was also taken away when I got on Medicare that did not cover home health.

“I was entering the age that Fabry was really impacting my health. I had the chest pains that stopped me in my tracks when walking anywhere. I had flashbacks of my mother doing the same.”

Within a year, I went from walking four miles a day to barely walking one. I had an attack of atrial fibrillation that landed me in the hospital. My heart impacted my energy, but Fabry has it’s own fatigue factor that is more insidious. It develops over a long period of time so you don’t notice the change. Eventually, I found myself only able to do one household chore then returning to my chair to rest. I could only wish to have the energy to get and gardening done. 

Summertime heat became unbearable and cold weather turned my fingers and toes blue. I understood the tears my aunts and mother shared in their frustration over trying to do ordinary things. 

“Fabry can affect family relationships. It is hard on a marriage to take away the dreams of travel and adventure from your healthy spouse. I am fortunate to have a supportive, loving spouse, but I feel bad he had to do so much for me.”

Fabry has damaged my relationship with my daughter who blames me for her diagnosis. It is difficult for young people to accept their future limitations.

I consider myself very fortunate to have relatively mild Fabry disease. After attending a conference for Fabry patients, I saw the level of suffering other men and women endure. I decided to volunteer for a gene therapy study.  

As a person in the medical field, I have always had a curiosity about the discoveries in genetics. I also felt I had much to contribute to help other people (and my own daughter) with Fabry, have hope for a better life. 

Fabry has a ripple effect for bring suffering and struggles to families financially, emotionally, and physically for generations. The dream is for a cure, but a more effective treatment would help. So far, my experience with the gene therapy treatment I received has been very good. I no longer must be on ERT infusions which has been a big gift of time.  Most of all my Fabry fatigue is lifted. That feeling alone, of having energy to get back to living life is incredible. 

I do not know how long the treatment will last, nor how it will affect my overall health, but it was worth every second. 

I am very grateful for the scientists, nurses, and medical team who are working on a cure. Hopefully Fabry will become a footnote in the history of medicine and gene therapy a celebrated cure for many other diseases."

Thank you to ‘P’ for sharing their story.