How I answer the common question ‘What is Fabry disease?’
There's a short and long answer, but the most important detail is hope
Like many American homes in January, our household is working to change habits. We’ve decided to take on the challenge of purging our diets of sugar, gluten, and highly processed foods. At the moment, four of us in the house are prepared to embrace clean eating, but only one of us is doing it not as a choice for fitness, but rather as a strategy to feel better.
My 14-year-old daughter, Marisa, has classic Fabry disease. For most people, the age of 14 is a wonderful year of being able to eat whatever you want without a care in the world. Yet, for Marisa, eating can be a roller coaster of emotions. Since the onset of her gastrointestinal (GI) manifestations of Fabry disease, she has wavered between having the freedom to eat the things that kids her age love and the fear of feeling awful after biting into a hot slice of cheesy pizza or a greasy burger.
The stomach pain and overall sick feeling that are normal occurrences in the life of Fabry patients can seem inconsequential from an outside perspective. My three children all suffer from chronic GI issues as a result of Fabry disease, but they don’t mention their discomfort anymore unless I ask about it. My oldest sons are away at college, so I often forget to ask. My sweet, introverted Marisa also suffers silently, because she tends to tuck herself away with a book when she doesn’t feel well.
Sweating the small stuff
Years ago, when genetic testing confirmed that I, along with my three children, had a Fabry gene mutation, we were immediately struck by the severity of this rare disease. We came to understand that Fabry disease is a lysosomal storage disorder that causes a buildup of a fatty substance called globotriaosylceramide, or Gb3, in cells. We learned that this buildup eventually causes organ damage and failure. A recognizable sign of this inability to remove toxins is that Fabry patients don’t sweat like we should, a condition called hypohidrosis.
So, when I’m asked for the hundredth time, “What is Fabry?” I might say something like, “We don’t sweat.” After that, I may or may not go into a longer explanation of the enzyme we lack, the accumulation of Gb3, and the long-term repercussions. Eyes always widen when I mention the big stuff like stroke, heart attack, and kidney failure.
Yet, despite that big stuff, the weight of Fabry for our family is in the small stuff.
The small stuff becomes heavy when my daughter says “I’ll pass” to her favorite Christmas cookie because her stomach can’t handle it. Or when my son cancels his weekend trip to a friend’s wedding because of a Fabry pain flare-up. Or when heat intolerance prevents one of my kids from enjoying a golf game, a beach day, a long walk, or another summer activity. Or when headaches and feeling feverish mean missed school, workouts, parties, and dinners with friends. Or when many an evening finds a kid lying in bed because he feels too sick to do anything else.
It seems easier to say “We don’t sweat” than to describe the small stuff. Likewise, it may be less taxing on the mind to accept the inherited malady as a whole than to confront the heaviness of Fabry’s daily offenses.
Common Fabry treatments aim to manage the long-term effects and prevent the big stuff from knocking a patient down completely. Yet, nothing seems to effectively mitigate the small, day-to-day stuff, or the persistent feeling of not being well. This reality is a major contributing factor to the mental strain that plagues most of the Fabry population. It can feel defeating to face yet another day of carrying a burden that is bound to grow, not diminish, with time.
Being a person who wrestles with worry, I understand the fear of being crushed beneath the weight of Fabry. Yet, I know there is hope, even when finding it is a hard-fought battle. Just as reaching past that tantalizing doughnut for protein instead is a daily decision.
So, in our home, we can reach past that overburdened feeling to find strength and hope in the words of Psalm 55:22: “Cast your burden on the Lord, and he will sustain you.” This age-old Bible verse reminds my family not to sweat the small stuff, because someone that is greater than the sum of all the burdens we carry is with us and will sustain us day by day.
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.
Angela
I really appreciate your story and admire so much the resilience your family shows as you deal with the day to day challenges about Fabry disease that so many people can’t understand.