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Tuesday, July 23, 2024


Son Inspires Down Syndrome Research Center at Stanford

By Jack Fichter

Son Inspires Down Syndrome Research Center at Stanford
CAPE MAY POINT — Sevenyearold Michael Kafker is described by his family as a blessing, a joy, and a delight.
He also obviously has good taste because this young Massachusetts resident asked to celebrate his eighth birthday in this charming seaside community with its sandy beaches and a grassy pavilion circle to play in.

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Most of the year Michael, his mother Dawn, who was born and raised in Cold Spring, 10-year-old brother Andrew, and father Roger live in Wellesley, Mass.
Michael’s presence on this planet may be the impetus for an enhancement of quality of life for other people who, like him, have Down syndrome. His dad, Roger Kafka, is cofounder of the Center for Research and Treatment of Down Syndrome at Stanford School of Medicine in Palo Alto, Calif.  He is not a doctor but manages private equity investments for a living.
By a strange coincidence, his Harvard School classmate and friend, Jim White, also became the father of a child with this genetic birth defect at about the same time. Together they provided the seed money to start the research center with Dr. William Mobley, head of neurology at Stanford.
Mobley studied Alzheimer’s Disease and Down Syndrome and now is concentrating on the latter and cognitive issues.
“We’ve helped them with connections to pharmaceutical companies that might have products that could be effective enhancing learning in children with Down syndrome,” said Kafker.
He said the center has been able to create mice with the disorder.  Research money has helped breed the mice, which cost $1,000 each. Children with the syndrome have cognitive functioning identical to a normal child for a period of time and then the learning process degrades over time, he said.
“The goal is to stop that degradation and to learn what is causing that degradation,” said Kafker. “It is also the same process in Alzheimer’s patients.”
Babies with Down syndrome are born with 23 chromosome pairs plus one extra copy of chromosome 21. They have three copies of chromosome 21 instead of two, he said.
The extra genes disrupt the balance of the body, leading to the distinct facial features, physical problems, and mental disabilities associated with Down syndrome. This gene could now be the target for drugs to “down regulate” the action of the extra gene in the future. There is some hope that a drug to reverse this gene defect could actually reverse retardation to some degree even in adults.
As woman age they have a dramatically better chance of having a child with Down syndrome, which occurs about one in 1,000 births, Roger Kafker said.
“We all fear having a child with a disability,” said Roger. “The reality is the kids are truly a blessing.”
He describes his son, Michael, as a very sweet and softspoken child who loves to be read stories. He said Michael loves his Rolie Polie Olie dolls and is very physically active.
Dawn said Michael planned his upcoming Oct. 8 birthday to include a visit to Storybook Land in Egg Harbor Township, pizza, and time with his grandparents, Del and Diane Brooks of Cold Spring. She said Michael attends first grade with help from a one on one aide.

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