Patient involvement is the key to effective research for rare diseases
28 february
Rare diseases heard day 2016 29 february Only 100 days remaining
Rare diseases heard day 2016 29 february Only 100 days remaining
Rare diseases heard day 2016 29 february Only 100 days remaining
2019 events
Tell your story!
Smith-Kingsmore Syndrome
Mike - United States
Smith-Kingsmore syndrome
I have a soon-to-be 16-year old son who finally got a genetic diagnosis this year: Smith-Kingsmore syndrome! There aren't very many people who have had this diagnosis as of yet, but we are certain as more
It took a long time to
Ida - Norway
FOSMN syndrome
In 2002 my right cheek went numb. I told my sister, who is a nurse, and she immediately had my head scanned to check whether I had a brain tumour developing. Fortunately, I had not. Gradually the whole
Living with Spinocerebellar
Allan - Canada
Spinocerebellar ataxia type 2
Hi, my name is Allan Rowley. Thanks for taking the time to read my story. I’ve started a GoFundMe campaign because I suffer from a condition with no known cure. It’s a disorder called Spinocerebellar Ataxia