Same mutation, different outcomes: My family’s Fabry story, part 2
College life for a son makes room for enzyme replacement therapy and more
Second in a series. Read part one here.
When our family was learning about our Fabry disease mutation, we heard about the inactivation of X chromosomes (where the mutation is found) and how Fabry disease thus presents differently in every female. That’s proven true in the absolute contrast between my own asymptomatic experience of Fabry and the experiences of Marisa, my daughter, who began suffering at a young age.
In twin brothers with the same mutation, however, it seems reasonable to expect more similarity.
Fabry disease was identified first in our family because of my son Anthony’s diffuse angiokeratomas, or cutaneous lesions. Immediately, we realized his fraternal twin brother, Michael, also had them, but to a much lesser degree. I wondered if that meant Anthony were more affected by Fabry than Michael. What we’ve come to understand is that they’re both affected greatly, but in different ways.
In this series, I’m interviewing my three kids with Fabry so they can speak about their lives. In my last column, I spoke with Marisa; here, Michael, now 21, will tell his story. Though he’s from Texas, he’s now living in Ohio as a junior at Franciscan University of Steubenville, where he’s majoring in business management.
SV: Describe some of the symptoms you endured before you were diagnosed with Fabry.
MV: The main thing I experienced before being diagnosed was severe foot cramping. This especially came about when being active, like playing football or running.
How old were you when you were diagnosed?
I was 17 years old and going into my junior year of high school.
How did it feel to know that you had Fabry disease?
I was pretty calm. It did not seem as life-altering for me as some feel it is, but I did feel like I was different and had something that made me realize I was human and life is fragile. Also, I knew there were a lot of crosses, or hardships, in my future because of it.
How did you feel about telling others?
I am very comfortable with people knowing, and I don’t mind talking about it.
How did having Fabry affect your high school experience?
My condition now, in college, is worse than it was back in high school. Fabry was certainly a struggle in high school, though, with my painful symptoms as well as needing to get infusions every other week.
How has Fabry affected your college life?
Fabry has definitely affected me in college. It is less appealing to be active. Sports aren’t as enjoyable. Plus, I hate walking to class, needing to do [enzyme replacement therapy] infusions, and keeping up with medicine.
What symptoms most affect your quality of life?
The two symptoms that really make life tougher are my neuropathy and my heat intolerance.
Do you ever feel depressed?
Never.
Have you found a silver lining in having Fabry?
Life is still great. Being able to milk a few things (like excused school absences) has been a perk. Also, one really cool thing that came about due to Fabry is that I got the opportunity to have a wish granted with Make-A-Wish. When I got diagnosed, I did some research on Make-A-Wish and saw that someone else with Fabry had qualified. So I asked my doctor if he would fill out the necessary forms on my behalf. He agreed, and weeks later I got a response saying I qualified (as did my twin).
So I got to dream up a wish. I have always loved classic trucks, and I had bought one that needed a ton of work. So I decided to get it redone. The process took a while, but it was so rewarding in the end. I have it up at school now, and I get so many compliments. I have nothing but great and thankful things to say about Make-A-Wish.
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Michael is a wildly optimistic and jovial young man. He chases big dreams and has brought our whole family along for the ride. His perspective has been refreshing on hard days.
When it comes to navigating the chronic condition written into our genes, each of my kids plays to their strength. The hardships of Fabry have nurtured resilience in Marisa, and Michael has been buoyed by his lightheartedness.
In the last part of the series, Anthony tells how Fabry has caused him to grow in both faith and empathy.
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.
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