The Pulse: People With Down Syndrome Living Longer, But At Higher Risk For Alzheimer's

Jan 26, 2017

Edward and Brenda Myette embrace in their living room in Cranston, RI.
Credit Kristin Gourlay / RIPR

People with Down Syndrome are living longer than they ever have before. But with that good news comes a troubling statistic. 

They’re at higher risk of developing Alzheimer’s Disease. How will families face this new challenge?

We’re sitting in the Myette’s living room. Brenda Myette is retired. Her son Eddie has Down Syndrome.

“I’m 46 years old. I have a big large family," says Eddie Myette. "I’m also a red sox fan, a patriots fan.”

This big sports fan has dreams of having his own family some day.

"If I have somebody in my life, I would love to take care of her and I would love to be a parent to one of my kids some day," says Myette.

With Down Syndrome, and nearing age 50, Myette has more than a 50 percent chance of developing Alzheimer’s Disease. His mother Brenda, like some other parents of children with Down Syndrome I spoke with, wasn’t aware of that risk.

“I’m very surprised when I learned about it, but I understand it," says Brenda Myette. "Like everything else in life you face it when you get to it.”

But if Eddie were to develop Alzheimer’s, would his family find the resources he needs to take care of him? Resources like specialized housing or nursing care? His mother says it might not be a problem.

“Fortunately for us there is a large family and so he will have someplace for the rest of his life. He won’t be hunting and searching and making new surroundings.

Brenda Myette says that takes care of what she thinks would be the biggest issue: housing.

“Very difficult to find. I thought by the time my husband and I reached our 60s he’d be in a nice place where he could be with folks that he enjoyed and not just his own family. But the opportunities that are out there I would not even consider.”

In general, nursing homes could care for people with Alzheimer’s and Down Syndrome, according to an industry expert. Or group homes could be made safer to cater to residents with both conditions. But the issue is capacity.

Brian Skotko is a young, outgoing medical geneticist at Massachusetts General Hospital. He says there’s an urgency to tackle the problem because people with Down Syndrome have gone from an average life expectancy of just five years old in 1950 to nearly 60 years old today.

“I think there’s a deep urgency in America also because what we learn from people with Down Syndrome will benefit all of us.”

That’s because of a genetic link between Down Syndrome and Alzheimer’s. Skotko explains.

“When someone has Down Syndrome, they have three copies of chromosome 21. We have 25,000 genes in our body scattered about those chromosomes. And on chromosome 21 there’s an important gene called the APP gene," says Skotko. "You and I have two copies of that but people with Down Syndrome have three copies of the APP gene. What does the APP gene do? It encodes beta amyloid plaques that can lead to Alzheimer’s.”

Those plaques are the telltale sign of Alzheimer’s, choking the brain little by little. In typical people, it’s the start of a terrible decline in cognition, behavior, a slow theft of memory and ability. In people with Down Syndrome, it’s just as devastating, but the disease looks a little different.  Skotko says it usually starts with a change in behavior.

“So people with Down Syndrome start with an intellectual disability, " says Skotko. "So when that Alzheimer’s comes, that intellectual disability could start to decrease, compound or fog things that are already there. So often times on a family it can be even more challenging to take care of someone with Alzheimer’s and Down Syndrome.”

Skotko is on a mission to stop Alzheimer’s Disease in people with Down Syndrome – for a very personal reason.

“My sister Kristin, who has Down Syndrome, is certainly a life coach for me. She loves her life. She loves what she’s doing. And she has a full set of robust activities every day. And it’s because of her that I do what I do. But she’s also 36 years old. And I know as a medical provider that Alzheimer’s disease is knocking on that door. And I hope it doesn’t settle for Kristin, but there’s a real urgency when I walk through the doors of MGH. I want to make sure we’re doing everything we can to investigate and try to come up with something to try to prevent Alzheimer’s from settling for Kristin and so many of her friends.”

So what can families do if they notice a change in behavior in a person with Down Syndrome? Skotko says get it checked out.

“We feel it’s very important that an adult with Down Syndrome get a good quality evaluation with a medical provider who knows what to look for with Alzheimer’s. Because sometimes families say ‘Oh, their behavior is changing,’ or ‘Oh, their cognition is slipping.’ But it could be other medical conditions.”

He says, there are some treatments that can alleviate symptoms.

“So for people with Down Syndrome who do have Alzheimer’s Disease we want to make sure if there are any behaviors that are getting in the way of them being them," says Skotko, "sometimes there are medications that can help with anxiety or depression.  But we don’t have a medication that can go to the heart and soul and erase Alzheimer’s Disease.”

That’s the goal for everyone. But Skotko says that because the genetics of the disease are more transparent in people with Down Syndrome, they may hold the key to achieving that goal.