Dystrophies among rarest mysteries

From The Australian, 15 November 2008:
IF little Jade Ochnio was a “normal” child, her mother Cheri believes she’d be a handful.
“If she was my able-bodied child, she’d be the naughty one,” Ochnio says. However Jade, 7, is not able-bodied because she has congenital muscular dystrophy. A few seemingly minor misspellings and deletions in her DNA have left her with such severe muscle weakness that she cannot walk, and never will, and struggles even to raise her head.
When Jade was diagnosed at five months of age, doctors gave Ochnio a grim forecast. “When she was originally diagnosed, with the information we had, they did warn us she possibly wouldn’t live past two years — but she’s now 7, so she’s writing her own textbook at the moment,” Ochnio says.
Jade’s condition is one a group of inherited muscular disorders which range from the most common — Duchenne muscular dystrophy, affecting around 1 in 3500 boys — to rarer dystrophies that have yet to even be given a name.
Some will kill within the first year of life through failure of the heart and lung muscles, while others have a far lesser impact and allow patients to live a relatively normal life with minimal disability.
While the number of children affected by congenital muscular dystrophy adds up to several thousand in Australia alone, the condition is classified as a rare disease and as such, rarely earns the attention of the pharmaceutical and biotechnology industry, or medical charities.
However, the annual cost of supporting a patient with a muscular dystrophy can be as high as $100,000 per year, and many families struggle to care for an affected child.
It is for precisely these reasons that congenital muscular dystrophies, and other equally rare childhood diseases such as X-linked mental retardation, have captured the imaginations of Lyndall and Malcolm Beville.
It’s uncommon to find two partners with such a passion for philanthropy in Australia, and even less common to find two people who can afford to indulge that passion. The result of this happy coincidence is the SMILE Foundation — a charity dedicated to funding research into rare childhood diseases and to supporting families affected by them. Read more.