Story #7 – “Joe”

As I enter middle age, I am learning to cope with the loss of my youth, the aging of my parents and the growing up of my babies. Children with Trisomy 21 will face these same struggles, and more. Trisomy 21 causes premature aging. This means they have the physical changes of aging up to 30 years ahead of the general population. Alzheimer’s is three to five times more prevalent in the Trisomy 21 population. Sadly, many with Down syndrome don’t seem to have the early memory loss of typical Alzheimer’s and so it goes undiagnosed until it is advanced and can no longer be treated with current medications. The long decline of Alzheimer’s is often shortened for those with Trisomy 21. The typical eight to ten years from diagnosis to death in the general population can be as quick as a year or two for those with Trisomy 21, heightening the sadness for families as their loved one quickly slips away.

Joe’s family had this experience. Joe’s first signs of Alzheimer’s disease occurred on Christmas Eve, 2007 when he had his first seizure. He died just fourteen months later, in March 2009. Joe lived his whole life with his mother in Bucks County, Pennsylvania. Before Alzheimer’s he had a full and quite independent life with friends, attending a job at a workshop, church, and a great love of Philadelphia sports. After Joe’s first seizure, his sister, Maura did some research and learned there is a link between seizures and the early onset of Alzheimer’s in patients with Trisomy 21. Maura was concerned to see Joe’s behavior change dramatically. For example, while he had always been very well behaved and talkative, he started to become belligerent and frustrated. When he couldn’t think of what to say, Joe would point to his head in frustration and say, “Use your brains, Joe!”

Maura was concerned about her 80 something mother’s ability to care for Joe. She sought places to care for Joe but was turned away until she learned of Dr. David Lynch (Dave) and the Trisomy 21 program at the Children’s Hospital of Philadelphia. Maura explained, “We visited Dave three times during the 14 month period after Joe started having seizures.  I also spoke to Dave on the phone several times and emailed his nurse practitioner, Kim weekly and then daily in the last two months.  We feel so blessed that the best doctor in the very best hospital was able to help Joe even if it was just for the last bit of his life.”

Most important to Maura was Dave treated Joe as a person, not a syndrome.  During Joe’s last visit at Children’s he was depressed and belligerent in the waiting room with Maura but brightened when he saw Dave.  When Joe sat down on the floor smiling, Dave sat down as well, smiling and asking him questions.  Maura says, “This visit was Joe’s last hurrah.  He brightened and even played a game with Dave in the office.”

With a worried view of the future, Maura thought to ask about hospice care for Joe.  “Kim had it arranged in three days,” Maura says. “We were so thankful, hospice arrived at my mother’s house the same day Joe lost his ability to walk and sit up.  He slept at home peacefully that last week.  Because Kim and Dave did everything for us, even arranging for payment, my mother who had always been there for him could be there, knowing he was safe at home for his final days.”

Maura hopes Joe’s story will help those who follow to look for the warning signs of Alzheimer’s while it can still be treated medically.  She also hopes research funded by organization such as ROCK FOR CHOP will find a way to delay Alzheimer’s onset in individuals with Down syndrome, so others will have an opportunity to live a full life without suffering its affects.

~ Grace, Author “Choosing Hope” and Co-Founder of the Children’s Hospital of Philadelphia Buddy Walk and Family Fund Day

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