How Shortages Affect the Rare Disease Community

Keara Engle avatar

by Keara Engle |

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It’s no secret that COVID-19 has caused a lot of issues for not just the United States, but the entire world. Because of the pandemic, for example, we’ve recently been experiencing issues getting the necessary medical supplies for my 4-year-old son, Cayden, who has infantile-onset Pompe disease.

Cayden has weakened lungs and a weak diaphragm due to Pompe. Because of this, he has used the BiPAP machine every night since he was about 10 months old so we can ensure that he isn’t struggling to breathe overnight.

However, due to COVID-19, there was an extreme increase in the number of ventilators and ventilator supplies that were needed. Hospital patients were requiring vent machines left and right. This left folks like Cayden scrambling to find supplies.

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We used to get a new BiPAP mask for Cayden every month, but now, we can only get a new mask every three months. Also, for some time they weren’t sending us enough filters for the BiPAP, which was frustrating considering there was a recall on the Trilogy BiPAP machines just last year. These filters are important and should be changed frequently until they can advise us on what to do about the recall.

More recently, there has been a shortage of sterile water. While this may sound like no big deal, it’s a huge deal to some patients in the rare disease community. You see, we use sterile water every week to mix Cayden’s life-saving medication, Lumizyme (alglucosidase alfa). The Lumizyme comes in little vials as a powder. Once the sterile water is added, the powder turns into a liquid, which can then be infused into his body through his chest port.

Luckily, our pharmacy has been sending us the correct amount of sterile water. However, the pharmacists have had to change the way they send it. Before, the water was sent to us in plastic vials, and Cayden’s infusion nurse would add the water to the Lumizyme. But now, the water comes pre-drawn for us in syringes because the pharmacy has run out of the plastic vials.

Unfortunately, not every family has been as lucky as we have. Recently, another Pompe family from a different state was having issues with their child’s infusions due to the sterile water shortage. That family’s pharmacy was unable to supply the correct amount of sterile water for the infusions, causing the family members to panic a bit.

However, I was able to ship some of Cayden’s sterile water to them. We have accumulated an abundance of those plastic vials of sterile water over time, and I would’ve hated to see them go to waste. I was more than happy to offer help and glad they were able to use it.

It’s a bit scary and nerve-wracking to think about the shortages we’ve experienced due to this pandemic — not just in the medical community, but in other areas as well. Not knowing whether your child will have the supplies they absolutely need is a fear that no parent should have to experience. For now, I can only hope and pray that this will all come to an end soon.

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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