Enzyme replacement therapy days are smoother with these 3 steps

My five kids are different in oh so many ways, which was abundantly clear from the varied responses when three of them were diagnosed with Fabry disease.

Anthony, 21, was introspective and curious when he learned about Fabry four years ago. He sought to learn as much as possible about his diagnosis, what was going on with his body, and how he could improve his health. He took it all in stride, not talking much about it at home and especially not in public.

Michael, his twin, is extroverted and immediately reached out to friends and family, even using “terminal” to describe his rare disease. He focused on Fabry stories he’d read online and often talked about worst-case scenarios. He discovered that males with Fabry qualify for the Make-A-Wish Foundation, so the organization was able to grant wishes for him and Anthony. He was bound and determined to find the perks or silver linings that might come with this chronic condition.

Marisa was 9 when our family did the genetic testing for Fabry and discovered that she has the gene mutation that causes it (as do I and her two oldest brothers). Thankfully, she was not exhibiting symptoms at the time. Many tears were shed as she imagined what her friends would think or how this curious condition would affect her life. Since I haven’t had symptoms, we had hopes that Marisa would be equally blessed.

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A balancing act

In addition to such individual feelings about their diagnoses, my sons and daughter have had vastly different experiences with enzyme replacement therapy. In a previous column, I described my family’s first experience with Fabrazyme infusions. Since that October day in 2019, our family has undergone many infusions, and each of my children has had his or her own highs and lows in the process.

Michael and Anthony started treatment together. From the first infusion day, however, the outcomes looked different. Some days one would have an adverse reaction, such as swelling, burning up, shivering, vomiting, or nausea, while the brother’s infusion would be uneventful. Two weeks later, the scenario would often flip, and the opposite twin would endure miserable reactions while his brother seemed to be unscathed.

I was present with each of my three children for the vast majority of their in-patient infusion time, only missing the occasional days when my husband was off work to accompany them. We searched for ways to make infusion days more comfortable, but as caregivers, we couldn’t try a one-size-fits-all approach.

Michael was happy to miss school (the more the better), but his biggest obstacle was missing work because WiFi was unavailable at the infusion clinic. Anthony hated missing class and having to make up schoolwork. He was often stressed at the thought of falling behind academically.

The boys both started off with Tylenol, Benadryl, and prednisone as medicines taken the night before and the day of infusions. Michael was able to wean off of them relatively quickly, but unfortunately, Anthony had to take all three before every single infusion. He particularly dreaded taking prednisone.

For Michael, the most stressful aspect of infusion day was getting poked. His veins are tricky to find, and needles are his nemesis. He needed to hydrate and mentally prepare for the IV. When it was being inserted, he always wanted to have someone or something to distract him from the needle. Anthony, on the other hand, wanted no attention when he was starting the IV.

Fast forward three years, to when Marisa began enzyme replacement therapy as a 12-year-old, after her symptoms developed. Her infusions were particularly painful from the beginning, with perplexing veins that had nurses struggling through multiple attempts to start her IV every time. She sometimes liked missing school, but other times got lonely. She’d seen her brothers get infused together, but she bore the weight of infusion days without a sibling to commiserate.

Over the past four years, I’ve been determined to make treatment as comfortable as possible for my kids. It’s clear, in our household at least, that each Fabry patient has unique needs and preferences. The name of the game is “do what works best for you.”

3 simple steps

We avoid comparisons and projections, but we’ve settled on three simple steps that improve morale on infusion day for all of my kids.

• Plan ahead: This step gave my kids who did not like missing school assignments plenty of time to talk to teachers about homework and get a head start on it if they wanted.
• Have a special lunch: It’s rare that our family eats out, so giving our kids a chance to order lunch from a restaurant or even pick a fun meal from the hospital café gave them something to look forward to.
• Fight boredom: Having access to movies or shows made a huge difference for all of my kids (especially since at home, that’s a luxury for weekends only).

What tips do you have to make infusion days run more smoothly? Please share in the comments below. 

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.