Rachel Potter is one of the youngest people in the United Kingdom, and in the world, diagnosed with early-onset dementia, caused by a rare condition called Gerstmann-Sträussler-Scheinker’s syndrome.
Gerstmann-Sträussler-Scheinker’s syndrome is a degenerative disease that affects the nervous system and, over time, inhibits the sufferer’s coordination, muscle control, and ability to speak. Most people with this disease begin showing symptoms between the ages of 35 and 55. Victims can live for anywhere from two to 10 years after diagnosis, with the average life expectancy being five years.
The mother of one was just 31 years old when she got lost driving home from her father’s house. It took family members hours to get in contact with her, and when she finally picked up the phone, she was very distressed, complained of not being able to read the road signs, and didn’t know where she was. Her family urged her to see a doctor, and it was then that she received the devastating diagnosis.
Now 33, the former childcare nurse is deteriorating quickly and is no longer able to do even the simplest of tasks without help, such as walking, writing, or getting in and out of the bathtub. Her family says she is not at all like the person she was before.
“We can see the change in her. She’s not the same person she was,” Potter’s father, Kev, says. “She was a bubbling outgoing girl with a massive circle of friends who loved working and socialising. She travelled all over the world. Now, she can’t work or drive anymore. She’s deteriorated rapidly, her mobility is decreasing all the time as well as her cognitive skills. She can’t write properly anymore or cook. She has trouble with directions and finding her way.”
Kev says the condition is affecting her relationship with her daughter, Brooke, as well, although the eight-year-old girl has shown remarkable maturity in dealing with the situation thus far.
“As time goes on,” says Kev, “her relationship with Brooke will be affected as the condition gets worse. Her world now is a few close friends, her family and her carers.”
Potter now receives visits from caretakers twice a day to help her with her basic daily needs, and her father cares for her the rest of the day. She must also see her doctors every six to eight weeks so they can perform cognitive tests and monitor her condition.
Sadly, Potter’s disease is genetic and has affected her grandfather and mother before her. Her grandfather passed away of the disease just six months after his diagnosis, and her mother, June, now requires round-the-clock care. The family worries about the 50 percent chance that the genes for this terrifying ailment will be passed down to Brooke as well.
“There’s a chance Brooke could have the gene too,” says Kev. “She won’t know until she’s 18, and that’s if she decides to have the test. It’s a ticking time bomb in our family.”
Potter has good days and bad days as she battles her disease. Only time will tell how quickly the condition will worsen and how it will manifest itself in other areas of her life. All we can do now is hope that Brooke will be able to escape the same fate that has been plaguing her family members for generations.
Kev is trying to organize and fund a trip to Disneyland before his daughter is too disabled to attend.
Elizabeth Nelson is a wordsmith, an alumna of Aquinas College in Grand Rapids, a four-leaf-clover finder, and a grammar connoisseur. She has lived in west Michigan since age four but loves to travel to new (and old) places. In her free time, she. . . wait, what’s free time?