Thursday, May 16, 2013

PWS Awareness Day #16: Having a Rare Disease

PWS is considered a rare disease (there is no standard definition for "rare," although one definition is that it affects fewer than 200,000 in the U.S. at any given time). What does this mean? 

It means that most medical professionals know very little about PWS (not their fault - there are literally tens of thousands of conditions and there's no way they can learn them all!), and even if they have heard of it, most have never had a patient with PWS. So you have to know your stuff. You have to explain things like 99 degrees IS a fever for your kid because people with PWS tend to run low temps and so it's all relative. You have to explain that people with PWS have reduced pain sensitivity and trouble metabolizing anesthesia, so the typical courses of drugs and pain management might look really different. 

It means that you have to appeal to insurance companies often because even though certain medications or treatments are not needed by most other kids your child's age, PWS is different.

It means that you have to have a lot of conversations with schools to convince them of the necessity of food safety and security and ensuring that your child's diet is followed and taken seriously. It's not their fault, they just don't know because most have never had a student with PWS.

It means that funding for research is limited. PWS doesn't get the attention that something like breast cancer or MS gets (and don't get me wrong, those deserve all the attention they get), so it takes all that much more awareness to get the word out that this is something to take seriously. It means the buy-in for drug companies to pursue pharmaceutical development needs to be greater.

This is why awareness is so important! Thank you for reading these posts. This smile is all the thanks you need, right? :)

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