The story of Alexandra Sloan
I am a 33-year-old woman with a disease only 100 people have worldwide, I also have a disease that only has around 30,000 people affected. Abetalipoproteinemia is the first – I do not absorb fat or fat-soluble vitamins, such as D, E, K, A. That means almost all parts of my body are affected. From joints to muscles to my brain to my nerves. My second disease is Fibrous Dysplasia – certain bones don’t heal correctly, and are replaced with fibrous tissue instead of solid bone.
There are no cures or effective treatments for Abeta – I take mega doses of vitamins, but my levels in the blood are still below normal. The treatments for FD are also minimal and often are pins and plates! We need to find ways to help people like us, who are rare in the rare. We are people too, after all.