Orphan diseases: which ones do we adopt?BMJ 2008; 337 doi: https://doi.org/10.1136/bmj.a1225 (Published 11 August 2008) Cite this as: BMJ 2008;337:a1225
- Tessa Richards, assistant editor, BMJ
I’ve met a new man through the internet. His name is Troy Richards. He is 46 years old and lives in Phoenix, Arizona. We’ve not met face to face, but I have visited the website he has pioneered, and we have exchanged emails.
In 1999 he underwent surgery to remove an abdominal mass “as big as a football.” It was an adrenocortical carcinoma, a rare aggressive tumour affecting around one in 1.6 million people. “I blew it off at first,” he told me, until it recurred in 2005. At this point he admits to being scared and was taken aback to find that most doctors had not heard of his disease and that “no one was putting any energy into researching treatment for it.” This prompted him to contact scientists at the Translational Genomics Research Institute in Phoenix, which was set up in 2002 to explore genetic variation in common diseases and develop new diagnostics and treatments.
After another …