This one's a puzzle: it feels more like an article for a lifestyle magazine than a book. Yet its subject is undeniably interesting. Londoner Sam Frears was born with familial dysautonomia, an extremely rare degenerative illness. Yet, despite all his challenges, Sam has just celebrated his fortieth birthday. He's remarkable, yet also resolutely down-to-earth and I hoped to learn more about his rather unusual condition, and how he feels. However, Mount seems more taken with describing his hangouts in quirky North London, and his various well-known friends (who, it must be said, are splendidly supportive and have helped Sam maintain his independence).

The story is touched with an undeniable glow of privilege: not everyone gets Kylie Minogue and TV actors to come to their 40th birthday party, after all. Sam is the son of the director Stephen Frears and former editor of the London Review of Books Mary Kay Wilmers, and I did wonder how FD sufferers in less fortunate situations might cope (Mount makes no mention of any others; presumably it's so rare that not many people can be found). It's hard to shake off the feeling that you're reading a Richard Curtis vision of London, in which famous arty people sit around being charming to each other. Pleasant, but not quite as informative as I was hoping.

An interesting side note: I learn, after having finished Mount's book, that the young Sam's nanny was Nina Stibbe, so if you enjoyed Love Nina, give this a go to see 'what happened next'. ( )

I picked this up after enjoying Love, Nina : despatches from family life by Nina Stibbe. She wrote letters to her sister describing her experience as nanny to Sam Frears, a child with familial dysautonomia, a disorder with multiple difficulties. Her charge was portrayed as a talented child with a very definite and defined sense of humour. This book is a brief account of life for the adult Frears who is living independently and working as an actor, and still has that unique sense of humour. ( )

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.

Observer article and excerpt from Being Sam Frears: http://www.guardian.co.uk/society/2012/jul/01/sam-frears-a-life-less-ordinary-ex... ( )