Monday, October 15, 2007

Globe Story on HD

Today's Globe has this moving story about Canadian scientist Jeffrey Carroll. Carroll, who is only 30 years old, has Huntington's Disease and is working on cure for it. You can learn more about HD from this site. Here are a few excerpts from the story:

No one knows this better than Mr. Carroll, a slender, fit man who looks like the poster child for good health. He knows what awaits him: Huntington's disease killed his grandmother and, more recently, his mother, Cindy Carroll, who died in December at the age of 54. Near the end, she had to be placed on floor mats in the nursing home in a Washington state town, so severe was her violent, involuntary thrashing.

This is the inherent viciousness of the disease: A child who watches it slowly kill a parent has a 50-per-cent chance of developing it, creating this perpetual cycle of grief and suffering.

....Jeffrey Carroll decided to undergo the test in 2003, wanting the certainty of knowing what the future held. He had already been through the physical – he had no neurological symptoms of the disease – and he had undergone psychological counselling. He was 25, married and an undergraduate biology student working in a laboratory. He was as ready as he ever would be.

On July 21, 2003, on a clear Vancouver day, Mr. Carroll showed up for his appointment with his wife, Megan Carroll, then 28.

The physician unfolded the piece of paper and read the test result out loud. In one brief moment, he learned he tested positive for the gene. Megan let out a noise she described as something between a gasp and a sob.

“And Jeff,” she recalls, “asked for a job.”

Mr. Carroll told the doctor that he was keen to be involved in finding a treatment. He wanted to help.

.......Life has been particularly sweet for Mr. Carroll over the past 15 months. When he learned he carried the Huntington's gene, he thought that fatherhood was out of the question. But when he heard about pre-implantation genetic diagnosis, which combines genetic screening with in-vitro fertilization, that all changed.

He and his wife decided to tackle this high-tech fertility treatment as a way to ensure they do not have a child who would ultimately carry the disease. It all worked – two unaffected embryos that did not carry the genetic mutation were implanted and twins, a boy and a girl, were born on June 27, 2006.