Rare Disease Report

Pompe ERT - Makes for a Long Day

APRIL 09, 2017
Buffy Boger

Buffy Boger and her 16-year-old daughter face a 15-18 hour day, every two weeks, in order to treat the teenager's Pompe disease with enzyme replacement therapy [Lumizyme (alglucosidase)].  In this clip, Buffy describes the long day.


I'm Buffy Boger and my daughter has Pompe.
 Initially when she began treatment three years ago we would drive six hours one way to Dallas then do an eight hour infusion and then drive home so we would start the day before and then would finish about four o'clock the afternoon and then drive home, arriving 10 and 11 at night. Our days have changed because now we catch the 5:30 flight and arrive at the facility at 7 – 8 am and we're there until approximately 4:00 pm and then we go back to the airport get on the plane, fly home, and arrive home sometimes anywhere between 7 and 10, depending on the flights.
Once we arrived at seven o'clock in the morning and then Shaylee is weighed and her height measured.  She does not have a port so they rotate left to right hands for the IV. The medication takes approximately an hour to make. Then we do the infusions which takes six and a half hours. Then there's a 30 minute saline flush after that then there's an hour observation for Shaylee. So that makes almost a nine hour day.

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