The Genetic Detectives

I can attest to the great need for programs like the NIH's, and as well the good things that Pharma companies have brought to us rare disease patients once they got help from the Orphan Drug Act. I wasnt diagnosed until age 21 with MPS I -mucopolysaccharidoses type I Hurler Scheie and alot of damage was already done bc I had been mis-diagnosed and not diagnosed with the correct disorder and now have had over 7-8 surgeries in just a 3 year span and facing more for spinal cord issues and to revise my shunt bc of hydrocephalus. I try to do alot of work on behalf of MPS awareness and am glad articles like this are getting out. ethiel@att.net

I can attest to the great need for programs like the NIH's, and as well the good things that Pharma companies have brought to us rare disease patients once they got help from the Orphan Drug Act. I wasnt diagnosed until age 21 with MPS I -mucopolysaccharidoses type I Hurler Scheie and alot of damage was already done bc I had been mis-diagnosed and not diagnosed with the correct disorder and now have had over 7-8 surgeries in just a 3 year span and facing more for spinal cord issues and to revise my shunt bc of hydrocephalus. I try to do alot of work on behalf of MPS awareness and am glad articles like this are getting out. ethiel@att.net

Going undiagnosed with a rare disease is definately a difficult road and it can be dangerous. I've been involved in Dr. Gahl's research for several years. He's an excellect doctor and a great guy. I have Hermansky-Pudlak Syndrome, a rare type of albinism that causes a bleeding disorder as well as other complications like digestive problems and pulmonary fibrosis. I wasn't diagnosed until I was an adult and nearly died from bleeding and GI complications before finding a diagnosis. I am so grateful to Dr. Gahl and his lab for the work they've done on HPS that not only benefits us, but others with bleeding problems, digestive problems and pulmonary fibrosis.