When Dr. Brian Skotko addresses the Carolinas Down Syndrome Conference this weekend, one of his favorite parts will be the workshop for brothers and sisters.
That’s because his own sister Kristin, 34, has Down syndrome. “She is certainly one of my life coaches,” he said. “She’s the primary reason I became a physician and why I wanted to be a doctor for people with Down syndrome.”
Skotko, 35, is co-director of the Down Syndrome Program at Massachusetts General Hospital in Boston. He will be the keynote speaker at the conference Friday and Saturday at Hilton Charlotte University Place. To register: www.dsa-gc.org/services/programs/ .
Saturday’s program, with counselor and social worker Susan Levine, is for siblings only. “We kick the parents out,” Skotko said. “We talk about the good, the bad and the ugly, and nothing is off limits.”
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The message for siblings and parents is the same as the name of a 2001 book he co-authored with Cynthia Kidder, “Common Threads: Celebrating Life with Down Syndrome.”
Down syndrome is a genetic condition that occurs when an individual has an extra copy of chromosome 21. Typically, the nucleus of every human cell contains 23 pairs of chromosomes, half of which are inherited from each parent. One in every 691 babies in the the United States is born with Down syndrome.
“Having that extra chromosome might bring some extra challenges, but it also brings some important life lessons the rest of us can benefit from. (They teach us) how to celebrate all victories no matter how big or small. They teach us to persevere, to try again.”
When he speaks to parents Friday, he said he’ll remind them “about the magical and marvelous qualities” in their children. “Being a parent of any child is hard today. Oftentimes when you have a child with Down syndrome, you get used to fighting and advocating for your child,” instead of celebrating their successes.
He’ll also share good news about two drugs, manufactured by Transition Therapeutics and Roche, that are being tested for their potential to improve cognition and stave off Alzheimer’s disease in people with Down syndrome. Skotko said 50 percent of people with Down syndrome develop Alzheimer’s-related dementia by 50.
“Until now, Down syndrome has never had a pharmaceutical company take interest,” said Skotko, principal investigator for the trials at Mass General. “This is a landmark moment for the Down syndrome community.”