I read an article in the online edition of the Observer (UK) on July 1st, which was an excerpt from a new e-book about a man with familial dysautonomia (FD), a rare autosomal recessive genetic disorder that mainly affects people of Eastern European Jewish descent. One in 27 of these individuals are silent carriers of the FD gene, as they carry one bad FD gene and one normal gene, and they are not affected by the disorder. If two FD carriers marry and each passes on the bad gene to the fetus, the newborn child will have this disorder. It has a variety of physical manifestations that affect the autonomic nervous system, which controls the function of a variety of different organ systems. Affected individuals have problems controlling their blood pressure and heart rate, and frequently have difficulty swallowing liquids and digesting foods. They also do not make tears, which can lead to progressive blindness, and have a decreased ability to sense pain. The average life span is 15 years, and 50% live to the age of 40. Affected individuals are generally intellectually normal, despite their numerous physical afflictions. Unfortunately, there is no known cure for this disorder.
The author was introduced by a mutual friend to Sam Frears, a Londoner who had recently celebrated his 40th birthday. She befriended him as well, and accompanied him as he participated in his usual activities of daily living. Sam is fortunate on one hand, as he was born to two prominent parents, Mary-Kay Wilmers, the editor of the London Review of Books, and the film director Stephen Frears, who took him to see the best specialists in the UK and the US after his diagnosis was eventually made. Sam relies on others to get about, due to difficulty in walking independently and progressive blindness, yet he leads a full and rich life, working as an actor and remaining physically active to maintain his body as best he can. He accepts his condition with grace and an infectious joie de vivre, along with an ability to laugh at himself that would be laudable for a person who wasn't so afflicted.
"Being Sam Frears", one of the new series of Penguin eSpecials, was a touching and inspiring albeit brief look into the life of a very able disabled person, who is determined to live as normal a life as possible for as long as he can. The author did a superb job in portraying Sam and those who befriend, love and support him without pitying or coddling him.
