Rare Disease Day 2017

Today is the international day of Rare Diseases – of course Epidermolysis Bullosa being one of them, it hits close to home. There are about 7,000 rare diseases, affecting 30 million Americans, 300 million people worldwide, but only 5% have treatments, and far fewer have cures. Rare diseases often go undiagnosed, and while a diagnosis per se does not cure the condition, the fear of the unknown is greater. Even when you do get a diagnose, sometimes it’s hard anyways because patients seem to react very differently to treatments. Second guessing becomes a pastime. No one can prepare you for having a rare child. It’s a lonely place to be. A diagnosis will open doors and give you accessRead More

I Can Disagree

I know this is not a popular stance, or maybe it is, but if living with a child (he may be 18 now, but he’s still my child and will always be-and he will always live with me!) with a rare form of Epidermolysis Bullosa has taught me, is that no matter how much a Doctor cares, sometimes he or she can be wrong. I read a book a few years ago about a local mother whose teenage daughter was diagnosed with a rare form of Brain Cancer, which is almost always incurable and impossible to detect before it becomes deadly. The Doctor did everything he could to treat her and by some miracle it looked as if theRead More