Monday, February 28, 2011

Rare Disease Day

Apparently, Feb 28th is International Rare Disease Day, which is an aptly named (though ridiculous sounding) day of remembrance.

And I checked, MCAD is one of the "diseases" included as a rare disease.  The list is actually incredibly long, but it's worth remembering that since such few people are affected, there should be a ton of diseases and only a small sample of the population is affected as a whole.

It feels weird to see MCAD on it.  Our situation doesn't feel like a disease in the true sense of the word, but rather as a dietary restriction, a behavior modification, a preference.  Cupcake shouldn't be fasting, and if she starts to crash we need to take her to the ER.  That's pretty much it, right?  No lingering daily afflictions, developmental issues (at least so far), strict medical regimens or physical/mental handicaps.  Yet at the same time, I know that if she has a metabolic crisis, she needs very specific treatment that only an ER can provide.  And from my understanding, most ERs are not familiar with Fatty Oxidation Disorder protocol, and that even if the kid looks fine they need immediate treatment.  So it's probably good to raise awareness.

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