This post is sponsored by the AHCF in honor of Rare Disease Day.
When I was younger I saw a movie, Lorenzo’s Oil, that really stuck with me. It was about a boy with a disease that – because it was so rare – the medical community had spent little time or resources trying to cure. There were “bigger fish” to focus on, so to speak, and a disease that only affected a small portion of people wasn’t a priority. It was heartbreaking to watch the boy’s parents fight against bureaucracy and red tape, trying their damndest to get attention for their son and other kids like him, any attention at all… from any doctor. The idea that someone could fall through the cracks simply because their disease wasn’t as well known as others was terrifying.
Years later, after Madeline passed away and my medical team was trying to figure out why I suffered a premature rupture of the membranes, I was diagnosed with a clotting disorder, antiphospholipid syndrome (APS). APS isn’t a rare disease, but it was definitely the least-known medical issue I’d ever had. When I’d tell a nurse or doctor I had APS, they were sometimes unfamiliar with it or had to run off to do research to reacquaint themselves with it. The fact that the medical personnel I dealt with weren’t always as intimately familiar with APS as they were better known conditions was unsettling. Of course, what I experienced was nowhere near as frustrating and scary as it is for people who are grappling with a truly rare disorder like alternating hemoplegia of childhood, or AHC.
AHC is the rarest of the rare, with only 1,000 people affected worldwide. It’s a neurological disorder that causes repeated attacks of hemiplegia (paralysis of a portion of the body) that can last for minutes, hours, or even days. The Alternating Hemiphelia of Childhood Foundation is a non-profit founded in 1995 by the parents of children with AHC. These brave parents refuse to let the medical world ignore rare disease, and have made it their mission to find the cause(s) of AHC, develop effective treatments and ultimately a cure, and provide support to the families and children with AHC.
To learn more about this particular rare disease or to donate to AHCF to help find a cure, click here.
You can also view the AHCF mission video here.
Have a personal story or experience with rare disease? Please share it in the comments.