I knew before he was born that my son would have Down syndrome. But it wasn’t until a few years later that I learned something terrifying: People with Down syndrome are at a much, much higher risk of developing Alzheimer’s than the general population. This is thanks to their extra copy of the 21st chromosome; it’s this chromosome that produces the amyloid precursor protein (APP), and too much APP is what leads to a buildup of protein clumps called beta-amyloid plaques in the brain. This buildup interferes with the brain cell’s functioning ability, which then leads to Alzheimer’s.
Not everyone who has these plaques in the brain will develop Alzheimer’s, although it does increase the risk. The problem is that virtually all people with Down syndrome have these plaques, and at the relatively young age of 40. By age 60, around half of all people with Down syndrome will have developed Alzheimer’s, compared to just 10 percent of the typical population.
There’s no describing how difficult this is for me to grapple with, as a mother. As it is, I’ve already had to come to terms with knowing that my son will almost certainly never have children, as males with Down syndrome are usually infertile. He can get married, and certainly lead an enriched, fulfilling life without kids of his own, but it’s still hard, emotionally. There’s no telling if I will outlive him or not, but the idea of knowing that one of my own children could potentially not remember who I am, and the bond we have, is heartbreaking, to say the least.
That’s why I am overjoyed every time I see progress made towards diagnosing, treating, and — hopefully — curing Alzheimer’s. There have been updates regarding a potential Alzheimer’s vaccine, which so far has shown progress in animal trials. Research into Down syndrome and Alzheimer’s is likewise offering hope of more knowledge of the disease. And now, a new breakthrough might have been made in how people receive a diagnosis.
As of right now, Alzheimer’s is diagnosed through a series of tests, including brain imaging and ruling out other potential disorders or health issues. Currently, it’s the best system we have in place — but it also means waiting a whopping six months to a year before knowing, which, in turn, means going up to a year without treatment, support, and extremely precious time with family, friends, and loved ones. Early detection almost never happens, because there is no blood test, brain scan, or physical exam that can make the diagnosis.
Studies presented at the Alzheimer’s Association International Conference this week showed a potential blood test was able to detect tau proteins, one of the most reliable signs of Alzheimer’s, as accurately as a spinal tap or a positron emission tomography (PET) scan, currently considered the gold standards of diagnosis. It also can differentiate between different kinds of dementia and flag early warning signs. More research is still needed, and the test hitting the market is likely years away, but it’s another promising update.
Researchers found that an abnormal version of the tau protein, p-tau217, is found in higher amounts in the blood of those with Alzheimer’s disease than that of healthy study participants. So far, the test has an extremely high level of accuracy, and measuring the p-tau217 levels can potentially detect Alzheimer’s 20 years before warning signs begin to appear. Being able to detect the disease so much earlier can also further lead to more clinical trials offering therapies that can slow down, or even stop, the disease.
For me, this kind of news is a godsend. It may not mean a cure for Alzheimer’s, but it could mean knowing my son has the disease and knowing that I have a limited number of years left with him to cherish. It could mean knowing to start treatments and therapies much sooner. It could mean a little more hope in the battle against this terrible disease — and that is something that means the world to me.