JACKSONVILLE, Fla -- 30 million Americans are affected by rare diseases and most are so rare that there is no treatment available.
That's the story of one local woman who is raising awareness after her son was diagnosed with a rare form of cancer.
"It was so difficult because we understood there was something occurring that the physicians were perplexed as well," said Cynthia Gist.
Cynthia Gist was a nurse practitioner for 35 years and could not figure out what was happening to her son. Doctors diagnosed his condition as psoriasis, a common disease that causes redness and irritation of the skin, but her son wasn't responding to treatment.
"The way the skin lesions had spread argued for the most part against the diagnosis of psoriasis," said Gist.
That's when Gist started her own research and got doctors to test her son for a handful of rare diseases.
"The results came back positive for cutaneous t-cell lymphoma which is a blood cancer and not a skin disease," said Gist.
At age 28, he had a rare type of cancer with no cure and not a lot of information on treatment was available. That's where raredisease.orgcame into play and Gist found a wealth of information to lead her to doctors who could work with her son.
Her son is now 30, living in Miami with his wife and kids and stable, but treatment is not very effective, that's why Gist is trying to raise awareness by organizing an event in Jacksonville on Rare Disease Day.
A Rare Disease Day event will be heldat The Landing in Downtown Jacksonville from 11 a.m. to 1 p.m. on Thursday, February 28th.