Seeking good news as symptom relief eludes my children
The future for those with Fabry is defined by monitoring, managing, and enduring
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The month of January tends to make people bloom with optimism and fresh resolve to achieve their wellness goals. However, the “take control of your health” message doesn’t resonate with people with Fabry disease. This time of year is a reminder of how much is outside of a Fabry patient’s control.
For my sons and daughter, dietary changes have done little to ease stomach cramps, diarrhea, and vomiting. Marisa spent months without gluten, dairy, or sugar, but saw no improvement. Anthony, whose Fabry disrupts his sleep, has tried schedules, relaxation techniques, and supplements, and has avoided electronics and caffeine, yet nothing has helped. Michael has cycled through multiple prescriptions for neuropathy symptoms, with no relief.
No resolution, diet, mindset, or lifestyle change can erase Fabry disease — and that reality can feel hopeless. The future for those with Fabry isn’t defined by determination or goals, but by monitoring, managing, and simply enduring.
Hope on the horizon
Recently, I overheard Marisa, who is 15, explaining to a friend why she stopped enzyme replacement therapy (ERT): “I missed too much school and hated being poked seven times just to get an IV started,” she said. Hearing those words, my heart ached, knowing there was no easy or happy resolution to her situation.
The specialist who ordered Marisa’s ERT at age 11 didn’t hesitate a year later when we met to discuss her wish to stop treatment. At the time, he didn’t think there was enough data on ERT’s effectiveness in children with Fabry disease, so it would be a matter of weighing the pros and cons. Back then, the cons felt much heavier.
Now, I cringe at the thought that letting my then-12-year-old make such a significant decision might have been detrimental. Will her adult self resent that I allowed her child self to choose? I can’t be sure. Today, Marisa’s health decisions remain in limbo. Her daily symptoms are tough, but not quite severe enough for her to want to restart treatment.
So is there hope? Any reason for Fabry patients to expect something new or better this year — or any year? I believe so. Research, increased public awareness, and medical advancements are paving the way toward a more hopeful future for those living with Fabry disease.
I often find encouraging developments here at Fabry Disease News. For example, long-term data from gene therapy trials suggest that a single treatment may enable lasting enzyme production and stable kidney function for years. Meanwhile, advances in enzyme replacement therapies and regulatory progress are expanding access to care. Some new options have been approved in Canada, and discussions are ongoing in Europe about whether ERT could one day be administered once a month, rather than every other week.
As research progresses and more data emerge, patients and families can be optimistic that safer, more effective, and personalized treatments for Fabry disease are on the horizon. I remain hopeful for Marisa, Michael, and Anthony, and I am honored to be part of the team here at Bionews, the parent company of this website. I want to be a bearer of good news and connect real people with real hope.
I am deeply touched by the comments my column receives, yet I often find myself longing to connect personally with the people behind them. So I invite any of you reading this to share your story with me — and, if you wish, with our community. Let’s be friends. I’d love to hear about your struggles, hopes, complaints, or accomplishments. If you’d like to connect, please write to me at [email protected].
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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