the scary inevitability that we need to spend more time talking about
We feel so lucky that our son Luca was born in the 2010s after so much progress has been made by this community in the past 50 years as the persistent advocacy for those with Down Syndrome has led to more acceptance, care, and integration into society. There are still many more strides for us to take and the fight continues but thank God we are now removed from the days of institutionalization and trying to hide loved ones who simply have an extra 21st chromosome.
As the life expectancy of individuals has steadily increased over the last few decades, something that is honestly quite frightening as a parent of a son with Down Syndrome has become more apparent. Just about everyone with Down Syndrome tends to begin developing Alzheimer’s starting at about age 40, and it is the leading cause of death for the hundreds of thousands of people with Down Syndrome in the U.S.
“Many parents and guardians in our community are not actively preparing for the eventuality that about 90 percent of our loved ones with Down Syndrome will develop Alzheimer’s”
Many parents and guardians in our community are not actively preparing for the eventuality that about 90 percent of our loved ones with Down Syndrome will develop Alzheimer’s. All too often, doctors often don’t know how to diagnose it, and little of the research (though this is growing) on Alzheimer’s involves people with Down Syndrome, notes Howard Gleckman, a senior fellow of the Urban Institute, and a writer and lecturer on aging, tax policy and other issues. The challenge is that the third copy of chromosome 21 makes it almost certain that someone with DS will start showing early progression of Alzheimer’s by their early 40s. This is thought to be because a gene on chromosome 21 spurs over-production of amyloid proteins, which break down into plaques that block activity between the brain’s neurons — the condition that causes Alzheimer’s.
The prevalence of Alzheimer’s in our community would suggest that it could be a rich source of information into the disease, Gleckman notes; apart from anything else, researchers should be tantalized about why 10 percent of this cohort does not contract the disease. This realization, especially over the last decade, has led to an increase in funding studies into adults with Down Syndrome and Alzheimer’s and researchers hope to learn more about what causes/prevents Alzheimer’s. Who knows, maybe the key to treating or reversing the disease will be discovered because of that extra 21st chromosome.
In the meantime though, the medical community is too often failing those with Down Syndrome, Gleckman says. Physicians who often miss early onset of Alzheimer’s and other forms of dementia in the general population are particularly prone to doing so when assessing those who already find it hard to express themselves, are challenged by cognitive tests, and face other behavioral or health issues. The Advisory Council on Alzheimer’s Research, Care, and Services issued recommendations early in 2022 advocating for physicians to be better trained, improvement of assessment tools for those with DS and other intellectual disabilities, and more frequent screenings for those in our community.
As for the treatment of Alzheimer’s, it received a setback in January when the Centers for Medicare and Medicaid Services announced that, until new tests are performed, the government won’t cover the cost of the drug Adulhelm, after it received mixed reviews in earlier trials. With insurance companies likely to follow suit, the drug’s future is uncertain.
But in the absence of a cure and shortcomings in care and research, there is much that guardians can do, Gleckman says, citing advice from Margot Rhondeau, senior director of health and wellness at the National Down Syndrome Society. “A lot of parents are in denial about Alzheimer’s,” she says. “Parents and caregivers need to become as knowledgeable as they can.”
As with other young people with special needs, it is important for parents and guardians to fully understand and plan for the care that their children with Down Syndrome will need later in life, a period when current guardians are either deceased or too elderly to shoulder the burdens of care, and siblings are busy earning a living and raising their own children. This means formulating a detailed plan of care and, in most cases, a special needs trust.
For these reasons, advocates urge guardians and family members to act now to ensure that their children with DS are benefiting from their longer lives to the maximum extent. The first step is to formulate a strategy with your special needs planner.