Thursday, October 06, 2005

Gwen went home with her moms and sister!

She went home yesterday, with a bzillion tubes and medicines and things, but she's HOME!!! Kim and Sue are exhausted and happy.

There was a great article in the Boston Globe (southern edition) about a family in Carver MA that has 5 kids and a mom w/ Mitochondrial Disease, and an amazing dad. It's an incredibly thorough look at this devastating disease.


The illness that binds them is as unpredictable as their lives. Not only does it affect each victim in a different way, but available diagnostic tests -- muscle biopsy, blood, and genetic tests -- don't always confirm the disease, making it hard to identify. Indeed, the Thorells' tests remain inconclusive, although doctors say that mitochondrial disease is clearly the family's ''working diagnosis."

A combination of three or more symptoms (muscle weakness, exercise intolerance, hearing impairment, seizures, learning disabilities, cataracts, heart defects, diabetes, stunted growth) in one person strongly points to the illness, especially when the symptoms involve more than one organ system, according to medical literature.

The United Mitochondrial Disease Foundation estimates that between 1 in 2,000 and 1 in 5,000 children born in the United States each year will develop mitochondrial diseases. Half this group will become symptomatic before age 5, and 80 percent of those will die by 20, according to foundation estimates. Because so few physicians and research centers properly diagnose the disease, the foundation believes it is grossly under-diagnosed.

The illness is so misunderstood that Donna, in the early stages, wouldn't go to appointments without the backup of her husband for fear doctors would not believe her. She home-schools her children because, she said, school officials have not understood the physical fallout of the illness and how it affects classroom performance. She has grown weary of people (including close relatives) who tell her that perhaps it's all imaginary.

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