The odds of two people with the gene meeting each other and having children who then get cystinosis are about the same as winning the lottery, notes Hammond drily.
32.
`Maybe we were being naive and altruistic, " says Dr . Jess Thoene of Tulane University, who headed a national commission on rare diseases and is an expert on cystinosis.
33.
Phosphocysteamine has been used for 20 years in the treatment of cystinosis, a rare hereditary disorder that, if untreated, results in blindness, kidney failure and death by about age 9.
34.
In the bill, Kennedy cited several examples of rare diseases, including cystinosis, a metabolic disease that causes havoc in kidneys and other organs and affects about 600 people in the United States.
35.
But like most of the 6, 000 disorders that the government calls rare, cystinosis doesn't have a celebrity spokesman or a television marathon or a big chunk of federal funding for research.
36.
He is Patron of Cystinosis Foundation, Down Syndrome International Swimming Organisation, Berkshire MS Therapy Centre, ABC to Read, Thames Valley Positive Support, and is currently a Trustee of the Thames River Restorative Trust.
37.
Cystinosis is a metabolic disease in which an amino acid, cystine, is improperly stored in cells all over the body, forming crystals that cause havoc in many organs, particularly the kidney and the thyroid glands.
38.
The Globe on Sunday profiled an 11-year-old Burlington boy, Shea Hammond, who has cystinosis and whose mother, Colleen Hammond, has been leading a fight for more funding for rare disease research.
39.
The National Institutes of Health is funding clinical research at its own research hospital on just 57 of the 6, 000 diseases, with cystinosis among the " lucky " ones to get some research funding _ although not nearly enough.
40.
Other causes include scleroderma, eosinophilic granulomatosis with polyangiitis, cystinosis, lymphoma, Gaucher's disease, Fabry's disease, pseudoxanthoma elasticum, hypereosinophilic syndrome, carcinoid, Noonan's syndrome, reactive arthritis, and Werner's syndrome.
