Saturday, February 28, 2015

Rare Disease Day

Earlier today one of my Facebook friends posted about Rare Disease Day. I know that February is American Heart Month and that February 7-14th (the week prior to Valentine's Day) is Congenital Heart Disease Awareness Week. Feeding Tube Awareness week is also in February (overlapping with CHD Awareness Week). I had completely forgotten that there was such a thing as Rare Disease Day.

As I did some further research, I realize that Lauren is actually a triple winner on Rare Disease Day.

According to, a "rare" disease is one that affects less than 200,000 Americans at any time. Both Pediatric Cardiomyopathy and Eosinophilic Esophagitis are both listed on their register of rare diseases. Lauren also has a gene mutation that has only been identified in one other child. That definitely counts as rare in my book.

The statistics I found tonight are that 30 million Americans have a rare disease and that nearly two-thirds of the people with a rare disease are children.

I've shared Lauren's story before, but that's not really why Rare Disease Day matters to me. Over the years I've made friends with many, many families who are dealing with Rare Diseases. Families who search relentlessly for answers, even if many times the newest round of testing leads to more questions than answers. Families who deal with medical issues and procedures that they never dreamed that they'd handle.

More importantly I've seen children rise above their challenges: a girl who plays beautiful piano solos even though Eosinophilic Esophagitis means that she gets nearly all of her nutrition through a feeding tube,  a boy bridging into Boy Scouts despite many hospitalizations for Mitochondrial Disease, and many other stories.

I'm praying for a day when there will be effective treatments for Eosinophilic Esophagitis, Mitochondrial Disease, the unnamed gene defect Lauren shares with a little boy named Ryal, and so many other rare diseases.

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