Same mutation, different outcomes: My family’s Fabry story, part 1
A columnist interviews her daughter about life with Fabry disease
First in a series.
“Do you have time to talk?” Chris’ ominous voice over the phone caught me off guard.
“Yes,” I answered and quickly shut my bedroom door to keep my five noisy kids from interrupting.
Chris is a physician assistant married to my sister, and on that summer day in 2019, he cautiously broke the news that my then-17-year-old son, Anthony, most likely had Fabry disease. Before that call, we had zero suspicion of a chronic condition. I was shocked.
That disconcerting word, “Fabry,” hung in the air. I didn’t understand it — after learning to pronounce it — and even after years of education and experience, I still can’t entirely define it.
This bizarre condition resulted from a mutation that’s identical in four members of my family, yet our experiences of Fabry disease have been remarkably different.
I’ve written about the circumstances of our diagnoses and the perplexing outcome of my family’s genetic testing, but today I’m letting my kids tell their Fabry stories. In this column, I’ve interviewed Marisa, who’s 13. Subsequent interviews will be with my twins, Michael and Anthony, 21.
I’m the only one with Fabry disease in my family of origin, and I’ve lived without symptoms. I was 40 when we discovered that three of my five kids inherited the Fabry mutation from me. I then went through the initial battery of specialist appointments alongside my teenage boys. In my case, there was nothing but good news, and I haven’t needed treatment. I happily accepted that my life had been unfazed and hoped my daughter (who was 9 at the time) would also be blessed.
But her story has been quite different from mine. Following is an excerpt of our conversation.
SV: How did your personal Fabry story start?
MV: When I was about 9 years old, I found out that my brothers and I had Fabry disease. When my parents told me I had it, at first, I was pretty scared. My parents reassured me that everything was going to be OK.
When did you start feeling symptoms?
In the fifth or sixth grade.
What symptoms have you had?
I started having stomach pains, and my hands and feet started to cramp up very frequently. I sometimes feel like I am burning up.
Tell our readers how the onset of symptoms affected your life.
My parents didn’t know at first if my symptoms were related to Fabry, so we tried a strict diet to see if that would help my stomach. I went on a gluten-, dairy-, and sugar-free diet for three months. During that period of time, I was deprived of some of my favorite foods, including ice cream, pizza, and burgers. By the end of the three months, I realized that my stomach wasn’t feeling much better than it did before I started the diet. I decided to get off the diet and find a better way.
Then my parents took me to the doctor to see what was going on. After a series of tests, my doctor concluded that Fabry was causing the pains.
Did the doctor tell you right away to start enzyme replacement therapy?
No, we discussed it with my doctor, but he said my parents and I should decide. We chose to try and see if [enzyme replacement therapy] infusions would help my condition.
How did the treatment go?
I started infusions every two weeks at a local health center, but they were very tiresome, and I always had trouble catching up on schoolwork. After a few months of going to the hospital to get infusions, I decided to try in-home infusions. My veins weren’t very good, and without a good vein detector at my house, my nurse had a lot of trouble getting the needle into my veins. The number of times it took for the nurse to get the needle into my veins ranged from three to seven sticks per visit.
We had a lot of problems with infusions, and I decided to try getting off any form of medicine and see what would happen. I have been off infusions for about six months, and none of my symptoms has improved or gotten worse.
Have you found any silver lining in having Fabry?
In our home, Fabry is not a dirty word. In fact, it has stretched us in ways that have undoubtedly made us stronger. My daughter and her brothers have an unspoken bond, and there’s some solace in knowing she’s not alone.
However, watching other family members’ stories unfold has its downside, too. Expectations can lead to disappointment because the disease is unpredictable.
In the next interview, my adult son Michael will share his story, including how Fabry has affected his high school and college life — and the 1979 Chevy that was his Fabry dream come true.
Note: Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Fabry Disease News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to Fabry disease.