COVID-19 Didn’t Cancel Fabry Disease Awareness Month

I have started and stopped and restarted this column so many times that I have lost count. My brain is fuzzy, my mind can’t seem to settle, and my beloved routines are all thrown out the window due to all that is going on in the world these last several weeks. 

But I would hate to let this month pass without recognizing Fabry Disease Awareness Month and attempting to spread awareness of my disease.

Fabry is a rare disease found in 1 of 80,000 annual live births, though overall prevalence might be 1 in 3,000 when late-onset diagnoses are considered. Most people that I talk to have never heard of it. I can’t blame them because only 14 short years ago I had no clue what the disease was, nor the impact it would have on my life and the lives of my mom, siblings, and kids.

The symptoms of this disease seem so unrelated that it can be hard for physicians to connect dots for a proper diagnosis. However, once one member of my family was diagnosed, my symptoms all made sense so I then assumed that I, too, had Fabry disease. Eventually, doctors gave me an official diagnosis.

Fabry disease has an X-linked inheritance pattern, meaning that males affected with Fabry will pass it on to their daughters but will not pass it to their sons. Females with Fabry disease have a 50 percent chance of passing it on to their kids — sons and daughters alike.

Given the above information, it is quite an anomaly that my mom — who inherited Fabry from her mom — had three girls and two boys yet all of us inherited Fabry disease. Interestingly enough, between the five of us, we all manifest our symptoms in different ways (though with some similarities) and varying degrees of severity.

My main Fabry disease symptoms are pains in my hands and/or feet when I get overheated, decreased ability to sweat, angiokeratomas, and whirling on my eye. I have also had a couple episodes of heart irregularities.

I have managed the first two symptoms with extra water intake as well as a healthy diet and frequent exercise. I have found these measures help immensely although I still need to be aware of my limitations and plan accordingly.

Gratefully, most days I go about my daily business with hardly a thought to this disease. I am very thankful that some of my symptoms have lessened over the years and the pains I used to experience are now few and far between.

One of the hardest aspects of this disease has been watching my kids start to develop symptoms. Way back when I was first diagnosed my mom apologized to me, in tears, for passing it on to me. In my mind, this was ridiculous as it was not her fault — there was nothing she could do about it. I now know a little of what she was thinking. I hate that I have passed this on to my kids. Despite my many prayers that the Lord would spare my kids from walking the path of having Fabry disease, the Lord has seen fit to allow two of my three kids to have it. My prayer is now that they would, as I have, find rest and peace in knowing that they have been given this challenge but He will always walk beside them as they learn to live their lives fully despite the disease.

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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 Services, and are intended to spark discussion about issues pertaining to Fabry disease.