From Fabry disease symptoms to diagnosis: Here’s my family’s story
Life's path isn't always a straight line, especially when it comes to chronic illness
Our family’s Fabry disease story started in the summer of 2019. I had driven a carload of teens from Dallas to my Cajun homeland for a youth camp, which was unexpectedly cut short because Hurricane Barry was poised to bear down. Frenzied, friendly camp staff helped us pack the kids and cargo in a hurry. We stopped in Lafayette at my sister’s house before trying to beat the evacuation rush out of Acadiana.
When my brother-in-law, who is a physician assistant at a dermatologist’s office, walked in from work, my son Anthony asked his uncle to examine some odd red dots on his stomach that had surprisingly started to bleed while he was at camp. Being the diligent medic that he is, my brother-in-law took great care in examining the unusual dots which were clustered in the belly button and spread out across my son’s torso and even his extremities. He had never seen this before, he remarked. Thinking nothing more about it, we left that night and made it home in the wee hours.
The next day, I received a shocking phone call. My brother-in-law had painstakingly researched the dots, which he now knew to be angiokeratomas, and had matched what he found with many other symptoms that he knew Anthony and his twin brother had complained of since childhood. With great seriousness in his voice, he told me it could be a rare lysosomal storage disorder called Fabry disease and that I should take him to a pediatric dermatologist as soon as I could.
The next week, we found ourselves in the office of a dermatologist who agreed to see my son after hours because we told him that we suspected Fabry disease. My teenage son, in nothing but his boxer briefs, sat awkwardly on the exam table while the doctor pulled a textbook off the shelf and showed us how his case matched the description of Fabry disease. As the news of this rare disease settled upon us, the entire nursing staff walked in to take pictures and observe this kid who was the practice’s first Fabry patient ever.
For his age, Anthony was exceptionally confident, muscular, and capable. The unexpected news and unsettling attention, however, made him feel like a freak. Bewildered and worried, we listened as a well-intentioned dermatologist warned Anthony to stop playing football, wrestling, and working in the sun until he had extensive evaluations by a cardiologist, nephrologist, neurologist, and other specialists. And since Anthony’s fraternal twin brother, Michael, had the same symptoms, we were told Michael also must have the disease.
The only thing that was clear in our minds on the ride home from the dermatologist’s was that Fabry was bad news and that my twins’ lives would never be the same. I prayed silently as I drove, and my strong boy stoically stared out the window. I can’t remember exactly what he said but it was something about the inconvenience of doctor visits — and I knew he was way underestimating the time he would be spending with specialists in the coming months.
Deeply rooted in my Christian faith, I am sustained by my God, who makes “all things work together for the good of those who love Him,” as St. Paul writes in his New Testament letter to the Romans. So, in other words, I believe God draws straight with crooked lines.
The weather, the abrupt upheaval of camp, and the fact that we were leaving our beloved Acadiana prematurely were exasperating (crooked lines), but maybe in the grand scheme what seemed problematic was actually providential (a straight path). Had we not stopped by a dermatologist PA’s house the day Anthony’s angiokeratomas broke open, and had he not known our family history of GI issues, foot pain, inexplicable fevers, and abdominal pain before doing his research, my kids could have gone undiagnosed for years or decades.
Crooked lines led us straight to an answer we didn’t even know we needed.
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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