I held my hand against the tiny baby inside my belly while she moved and thought of the past few months. During the 20 week sonogram the technician told me it appeared that there might be a cleft lip & palate, water on the brain, clubbed feet, dilated kidneys and no stomach. The doctor said she wouldn’t live to or past her birth and referred me to another physician. The clubbed feet & water on […]
Rare Disease Day is an international awareness campaign that takes place on the last day of February each year. It is the one day the world comes together to recognize people with rare diseases with the goal to raise awareness among the general public and decision-makers about rare diseases. Why do rare diseases need an awareness day? As it turns out, rare diseases are not so “rare.” There are approximately 7,000 rare diseases that combined […]
by Brandy Pavia When I was a kid, I loved playing M.A.S.H (Mansion/Apartment/Shack/House). If you’re over 30, don’t act like you’ve never played! Strangely enough, each time I played, I’d almost always end up living in a mansion in Hawaii, with Keanu Reeves, our four kids, and a stretch limo. Those answers may or may not have been rigged, but I’m pleading the fifth. You’ll be surprised to learn that things didn’t quite pan out […]
An interview with Erdheim-Chester Disease patient, Rusty Kuhn By Elizabeth Silva Anderson, ECD Global Alliance Disease-stricken pastor and writer Rusty Kuhn wants to be healthy again. The husband and father of two misses restoring vintage cars and writing. Rusty must fight against Erdheim-Chester Disease to regain his life. “I was very close to death. My condition continually worsened leaving me wheelchair bound and in need of assistance with almost everything I did.” Erdheim-Chester Disease placed […]
Our daughter Leah got a diagnosis after waiting three long years. Our insurance would not pay for genetic testing. We were very fortunate to have Aware of Angels donate this testing to us. Leah was a healthy happy five month old and over night her body began to have hundreds of seizures. She lost all her motor skills and communication skills. We were devastated. She spent countless nights in the hospital where she was poked […]
