My sweet friend, Barbara, called me one day last month to check in on Andres. We got to talking. She has a fabulous son in his late 20s with Down syndrome, and he recently started having seizures. It turns out as doctors start documenting more case studies of the adult population with Down syndrome, they are finding out a few things. One of them is that as young adults with Down syndrome start nearing their 30s, many of them begin having seizures. As a matter of fact, one study has found that 38% people with Down syndrome develop adult-onset seizures. That was news to both of us. You know, just when you think you’ve got a handle on all the complications of Down syndrome . . .
Something else I’ve been hearing a lot about lately is the connection between Down syndrome and Alzheimer’s disease. I attended a presentation last year, I think it was, where I got the not-so-wonderful news that virtually all of our kiddos with Down syndrome have a gene mutation associated with Alzheimer’s Disease which will quite likely shorten their functional lives dramatically.
This mirrors the articles that have been floating around the last couple years about the connection between Down syndrome and Alzheimer’s disease like this one: http://www.emedicinehealth.com/alzheimer_disease_in_individuals_with_down_syndro/article_em.htm
But what about that man who lived to be 83 years old who had Down syndrome and no Alzheimer’s disease (http://www.disabilityscoop.com/2012/03/16/oldest-down-syndrome-83/15193/)? The presenter mentioned him and said his DNA had been tested and he just happened to be one of the few people with Down syndrome who did not have this gene.
But Len Leshin, M.D., a pediatrician who writes and collects articles on Down syndrome and the father of a son with Down syndrome, has another explanation. This article (http://ds-health.com/adults.htm) was published in 1999, but shows very different findings. It chronicles the life of a clinic for adults with Down syndrome as the doctors sought to pinpoint the cause of the decline in function of the older Down syndrome population which had historically been dismissed as the onset of Alzheimer’s disease. It turns out the vast majority of those patients, 97.5% did not have Alzheimer’s disease but instead had other medical and emotional health disorders such as depression, hypothyroidism, vitamin deficiencies, etc.; and all improved with adequate treatment of the underlying problem. The 2.5% who were diagnosed with Alzheimer’s disease continued on the typical Alzheimer’s path, and were positively diagnosed with Alzheimer’s disease at autopsy.
So, here’s the rub: Once a patient with Down syndrome is diagnosed with Alzheimer’s disease, the pursuit of evaluation and treatment stops. Alzheimer’s is called the root of the problem, medication may be given or it may not, and family members, caregivers, and the patient are all left to make the most of whatever time is left. The doctor matter-of-factly writes his diagnosis in the chart and moves on to the next case.
Do not let this happen to your loved one. The story of this clinic is a good reminder to all of us to advocate for our children and loved ones when it comes to medical treatment.
Doctors are only as good as the information they have been given or they have sought out. If you are caring for an older person with Down syndrome, print out a copy of (http://ds-health.com/adults.htm) and give it to your loved one’s health care provider. Many, many doctors are relying on what they have been taught in textbooks and medical journals. Just because they believe it and regurgitate it to you doesn’t mean it’s true. And if you start faltering in your push to get a proper diagnosis for your loved one, reread the article, and arm yourself with the facts. He’s counting on you, and one day Noah will be counting on me to do the same for him. Let us walk and widen the road you have paved with your advocacy. And may we never forget to thank the people who started the road to begin with.
A special thanks to Len Leshin, M.D., who was one of my very first contacts after Noah was diagnosed. His website, http://ds-health.com/, is a wealth of information for all of us who have questions on the real facts
and myths of Down syndrome.