When plans for my son’s home infusion go haywire

In the world of rare disease treatment, one snafu can cause big problems

Keara Engle avatar

by Keara Engle |

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Every month, we receive a package at our house for my 6-year-old son, Cayden, worth almost $14,000. What could cost so much, you might wonder? Life-saving medication.

Cayden receives biweekly infusions of Nexviazyme (avalglucosidase alfa), as enzyme-replacement infusions are currently the only treatment option for Pompe disease, which Cayden was born with.

Typically, the deliveries are smooth and easy. We call the pharmacy to order the medication and the supplies that go with it. This time, however, when I opened the package, I noticed that something was missing. The sterile water that is used to mix Nexviazyme was nowhere to be found.

Usually, this wouldn’t be a big deal, but Cayden’s infusion was scheduled for the next day. I immediately contacted his home-infusion nurse to let her know that the water was missing, because without it, the infusion wouldn’t be possible. My next call was to the pharmacy, where I explained what had happened. They apologized and immediately sent the sterile water via overnight shipping so that it would arrive sometime the next day.

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Better outcomes seen after switch to Nexviazyme from Lumizyme

While this solution was helpful, there’s no telling when delivery drivers will arrive at our house. On a typical infusion day, we like to start bright and early, between 7 and 8 a.m. Because the infusion takes roughly six hours from start to finish, it works best for us to start early. That way, our entire day isn’t tied up.

In a bit of a panic, I reached out to Cayden’s metabolic specialist, who prescribes everything infusion-related. I wanted to see if the specialist could send a prescription for the sterile water to a nearby pharmacy. With a few minutes to spare, the doctor sent the prescription just before their office closed.

Things finally seemed to be taken care of — or so I thought. As it turns out, the pharmacy didn’t have the sterile water in stock, which meant they’d have to order it. But the pharmacist told me their orders are typically dropped off before the pharmacy even opens, so we could pick it up first thing in the morning!

I called Cayden’s home-infusion nurse again to give her the update. She was thrilled that we’d figured it all out. The last thing either of us wants to deal with is another scheduling issue. The next day, she arrived in the early afternoon, which gave us time to wake up and head to the pharmacy.

The infusion lasted until about 4:30 p.m., but Cayden didn’t mind. He’s used to making adjustments in life because of Pompe disease. I’m glad everything worked out in the end. And now we’re stocked up on sterile water for a while!

Note: Pompe 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 Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.


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