I’m a 40-year-old Englishman living in Bellingham, WA. I met my wife, Michelle, who is American, in Australia in 1997. We have two kids – Sam (7), and Madeline (4). I’ve been in the US for ten and a bit years and work from home as a freelance writer, focusing mainly on golf (I used to teach the game).
At 18, I was diagnosed with multiple sclerosis, but I was born with a very rare condition called alkaptonuria (about 1,000 cases worldwide I think) which causes pretty severe arthritis from the mid-30s on. I’m at the National Institutes of Health this week to have a barrage of tests, the results of which will be added to the AKU knowledge base. There is no known cure at the moment, but the more information that can be gathered the likelier doctors are to find one. The tests will be carried out by Dr. Wendy Introne, a pediatrician and biochemical geneticist who performs clinical research on rare genetic conditions at the National Human Genome Research Institute.
I will be staying at the NIH for four days and will hopefully have time to post something about the experience every day. The hope is that by publishing this blog, others with AKU will be encouraged to visit the NIH for the same tests.