Same mutation, different outcomes: My family’s Fabry story, part 3

Last in a series. Read part one and part two.

In this three-part interview series, I am happy to share the candid, personal perspectives of my three children with Fabry disease. I’ve already spoken with Marisa, 13, and Michael, 21. This final installment offers a peek into a story that isn’t shared often. My son Anthony, 21, was the first person in whom our family’s Fabry mutation was identified, but he would be the last in the family to disclose that he had the disease.

Anthony and Michael are twins, and as the saying goes, they couldn’t be more different. For example, Michael anticipated his Make-A-Wish choice for three years. He had dreamed big, requesting the interior of his 1979 Chevy to be restored, and talked about it ad nauseam to family and friends. Michael invited buddies to the ribbon-cutting reveal and enjoyed the spectacle. He uses his truck as a conversation starter and proudly dons his Make-A-Wish T-shirt often.

Anthony, on the other hand, was awarded college money through Make-A-Wish. He chose a wish that took no time and included no pomp and circumstance, though our family was blessed by a special wish-granting dinner. Anthony loved the treats, but he never mentions that he received a wish.

Here, I will let Anthony describe his unique journey.

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SV: Describe some of the symptoms you endured before you were diagnosed with Fabry.

AV: Before I was diagnosed with Fabry I had many symptoms that were present and that became more prevalent as life went on. Some of the biggest culprits were the manifold GI [gastrointestinal] issues I dealt with on a daily basis. I had trouble adjusting to the heat, which I later figured out was because I could not sweat. I had a lot of headaches growing up, and I also had neuropathy, which manifested often as pain in my hands and feet, that I could not solve.

How old were you when you were diagnosed?

I was 17 when I got diagnosed with Fabry by a pediatric dermatologist.

How did it feel to know that you had Fabry disease?

When I was diagnosed with Fabry, I was in a spot of wondering why all these challenges were happening to me. For example, I wondered why all the other guys at wrestling practice were drenched in sweat and I wasn’t. I wondered why I was overexhausted from my landscaping work and had to take frequent breaks from the heat. My diagnosis seemed to be an answer to these looming questions.

How do you feel about telling others?

I am very embarrassed about telling anyone about my Fabry disease. It is something that is very close to me. You can tell the depth of my friendship with someone if I opened up in this way.

How did having Fabry affect your high school experience?

It had a big impact on my high school experience. I missed a ton of classes for doctor appointments and days I did not feel well. I also got enzyme replacement therapy infusions once every two weeks, which meant that it was mandatory for me to miss at least 10% of school days just for that.

How has Fabry affected your college life?

I am way less energetic when the weather warms up, and I have a greater tendency to stay inside. I also used to do infusions every two weeks here, which took a lot of my free time away.

What symptoms most affect your quality of life?

The lack of heat resistance and the neuropathy are tough.

Do you ever feel depressed?

I do sometimes feel a little depressed on a really difficult day, but for the most part there are a lot of good days.

Have you found a silver lining in having Fabry?

I have found the silver lining in this: This large cross I was given to bear has helped me to really dive into what it means to suffer and what it means to suffer well. It is a burden that has led me to the foot of the cross. When I look up at the God I love and see that he has not only suffered but redeemed suffering, that strengthens me to get through those tough days. Most people try to avoid suffering, which for me is often very difficult, so I have learned to embrace it because it does have value. I have also gotten better at sitting with people as they suffer and trying to be empathetic.

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Although they inherited the same mutation from me, Marisa, Anthony, and Michael are on very different paths. However difficult and draining their condition may be, they have found gratitude through family, faith, and even life with Fabry.

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.