Canceled Appointments With Rare Disease Specialists Can Be Frustrating
Appointments with Pompe specialists often involve long distances and weeks of planning
If you’re the parent of a child with a rare disease, or if you have a rare disease yourself, you’re likely accustomed to juggling various appointments with rare disease specialists. My 4-year-old son, Cayden, sees many different specialists due to his infantile-onset Pompe disease.
Recently, we had an appointment scheduled to see his metabolic specialists during a Pompe clinic day. These specialists, for the most part, oversee everything Pompe-related during clinic days. We discuss Cayden’s enzyme replacement infusions and any concerns I might have. Cayden then sees a physical therapist and has bloodwork done before the visit ends.
Ahead of this appointment, we had everything set up and ready to go. But a day before the appointment, the office called to reschedule for the beginning of October. Several staff members had gotten sick and called off work, leaving them short-handed. While I understand that it happens, I’d be lying if I said it wasn’t a little irritating.
Lots of planning
These appointments aren’t your typical well-child checks, which are usually local. Cayden’s rare disease specialist appointments are booked months in advance and take days, and sometimes even weeks, of planning to get everything figured out. When you put all of the effort into planning something like this, and then plans change at the last minute, it’s frustrating.
Most of my frustration stems from the fact that Cayden was recently switched to a new enzyme replacement infusion called Nexviazyme (avalglucosidase alfa). While I have no big concerns, I am anxious to see what his lab work will look like and how he will do during the physical therapy session.
Routine lab work is a crucial part of managing Pompe disease because it shows doctors what’s going on inside the body at a cellular level. Cayden’s liver enzyme levels are checked and a few other routine lab tests are done to see if the enzyme replacement infusions are working as they should.
I also wanted to bring up a few questions and concerns I’ve been having. Cayden has been complaining of pain, which is a common symptom of Pompe disease, but I still wanted to make sure everything is OK. I also wanted to discuss getting him a wheelchair and a bigger stander, because he has outgrown the one he’s in now.
Of course, I plan to bring these questions up at the rescheduled appointment, but we’ve already been waiting months. Having to wait another month isn’t something I’m particularly happy about. I understand that things happen that are out of our control, but I wish it didn’t have to be this way.
As the parent of a child with a rare disease, we must be our child’s biggest advocate. I always try my best to keep in mind that Cayden isn’t the only one dealing with Pompe disease, and things like canceled appointments probably happen to other patients, too.
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