To my family, Fabry disease treatment isn’t one-size-fits-all
How my children have stopped getting enzyme replacement therapy
Note: This column describes the experiences of the author’s children with various enzyme replacement therapies. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy.
“Straight Paths With Crooked Lines,” my column, describes the VanVickle family’s journey with Fabry disease, including its treatments. For many with the disease, the way to health is not a simple jaunt from point A to point B. Trial and error is common, and treatment plans can take unexpected twists.
My kids are among the fortunate patients who have benefited from an early diagnosis. While introducing my teenage sons to the treatment options available, our fabulous, knowledgeable doctor has stressed the positive, saying that with early detection and intervention, my kids should be able to live life to the fullest.
We came to better understand Fabry, which is caused by a mutation on the X chromosome. The affected gene results in the lack of an enzyme called alpha-galactosidase A (Gal A), which breaks down a type of fat called globotriaosylceramide (Gb3 or GL-3) into blocks that can then be removed from the cells. Without Gal A, GL-3 isn’t broken down and therefore builds up inside cells, causing multisystemic damage.
At the time of diagnosis, the doctor conscientiously warned us that the buildup of GL-3 is lifelong and degenerative. My husband and I felt there was a clear and urgent need to get our kids on treatment. While they weren’t looking forward to the exhausting process of enzyme replacement therapy (ERT), my twins were convinced that the doctor’s sage advice would improve their lives and were therefore on board.
Treatment that’s the right fit
Having treatment options has been a source of hope for my kids and me, but the quest for the right fit has been taxing. Each individual in our family has taken their own zigzagging path, and we continue to seek treatment that might mitigate my sons’ and daughter’s symptoms.
My oldest boys, the twins Michael and Anthony, had their first ERT infusions in October 2019. I’ve described that initial infusion day here in great detail. For about four months they received biweekly Fabrazyme (agalsidase beta) infusions, but had adverse reactions and desperately wished for infusions to speed up and be administered at home. It was a happy day when they were finally able to switch to home infusions, but nonetheless, those infusions were never less than difficult.
As the twins went off to college, they would’ve liked to stop infusions altogether, but they pushed on with Fabrazyme because it seemed to be the only way to manage their health. When the opportunity arose, however, both chose to switch from Fabrazyme to a new ERT from Protalix Biotherapeutics: Elfabrio (pegunigalsidase alfa). One of the boys preferred Elfabrio and stuck with it while the other went back to Fabrazyme.
In the meantime, my daughter, now age 12, started receiving Fabrazyme infusions at the hospital and then at home.
ERT was initially an answer to this mother’s prayers, but now my kids have all bailed out of it because of drawbacks. Admittedly, it’s a huge time commitment, it’s uncomfortable, and it doesn’t manifest healing in a tangible way for the young, active members of my family.
My daughter stayed on ERT the shortest amount of time; having difficult veins and refusing to consider a port contributed to her dread of every single infusion. Now she’s taking a break, and we’re hoping to find a tolerable and effective remedy for her before she starts high school.
Recently, my sons were blessed with the chance to participate in the PERIDOT Phase 3 clinical trial (NCT05206773) of a substrate reduction therapy. The most attractive aspect of this medication, venglustat, is that it’s not administered intravenously. To enter this study, the twins couldn’t have treatment in the six months beforehand.
Having a good reason to stop therapy temporarily worked to the twins’ advantage. Anthony enjoyed a semester of studies in Florence, Italy, and Michael loved his semester in Gaming, Austria. Both were delighted to travel all over Europe without being encumbered by the logistical nightmare of planning and executing ERT.
In the randomized, double-blind trial, Michael and Anthony take a daily pill without knowing if it’s a placebo or venglustat. They also must input data multiple times a day into a survey device to track their symptoms, reactions, and overall experience on this new drug. The inconveniences of the clinical trial are less burdensome than the pain of previous treatments, and we’re sure that in the near future, they’ll both be on venglustat (if they aren’t already).
Research to improve the lives of Fabry patients is ongoing, and we’re thankful treatment options are available. Having traveled this road for almost five years, we know we haven’t arrived at our journey’s end. We travel on with hopes for efficacious remedies, and along the way we anticipate both crooked lines and exciting discoveries.
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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