Hidden stones carry clue to a rare syndrome
Hidden around Virginia Lake in Whanganui are specially decorated stones designed to intrigue and inform people about a rare genetic syndrome known as cri du chat – or cry of the cat.
They have been hidden by Rachel Dempsey, a local woman who wants to help people understand cri du chat, which affects her and around 20 others in New Zealand.
Rachel, 36, is a member of the Whanganui Rocks Facebook group, whose members paint rocks and hide them around town for others to find, re-hide or keep. Rachel decorates her rocks with the label cri du chat and her contact details in the hope that people will find the rocks and get in touch to find out more. What does she want people to know? “That we exist.”
Cri du chat, or 5P minus as it is also known, occurs when a portion of chromosome 5 is missing or deleted. It results in a wide range of intellectual and developmental disabilities. Rachel says her disability is on the mild end of the scale.
“I am cri du chat, but I am ‘mosaic’. That means some of my cells are deleted but not all.” It affects her speech, her concentration and her balance, and she has a mild intellectual disability. She also has hip dysplasia and limps when she walks, and she avoids crowds because of sensory overload.
The syndrome got its name because of the distinctive cat-like cry of babies with the condition. Rachel, however, wasn’t diagnosed until she was two years old and was slow to develop speech.
“I had constant ear infections so at first they thought I was deaf,” she says. “When I was five my speech was three-and-a-half years behind all the other kids in my class, but within six months I had caught up because I was learning new words every day.
“My speech therapist wanted me to learn sign language, but my Mum turned around and said, ‘No, this child can speak, but on her own’,” Rachel says. “I do struggle. Pronunciation is a big one and, if I am tired, I will get my words muddled up in a sentence.”
That hasn’t stopped Rachel being an energetic communicator. She is active in three Facebook support groups – the Friends of Cri Du Chat support group, the Cri Du Chat/5P- Society based in the United States, and the Cri du Chat Facebook group for Australian and New Zealand families. She has attended conferences in Australia and the United States and, in 2014, was awarded Superhero of the Year in America for reaching out to newly diagnosed families on Facebook and sharing her story.
“I think I have helped over 1000 families since I first began reaching out.
The drive to advocate for others runs deep, and without her disability she imagines she could have chosen a career working with people – “If I didn’t have cri du chat, I would say a lawyer or teacher”. Her mother, sister and sister-in-law are all lawyers and her aunt is a judge.
When Rachel left school she trained to be a teacher aide through Whanganui tertiary provider Training for You and got a job at her former high school Cullinane College. But when funding ran out, her job ended. Since then Rachel has volunteered at Trade Aid and the Red Cross second-hand bookshop, and with the YMCA Boogie Buddies gym class for children.
Rachel is now working with the Choices NZ Facilitator in Whanganui under the Employment Service contract IHC holds with the Ministry of Social Development. She is on a path to getting a job that suits her love of books and reading. She mends books on Friday mornings at the Whanganui East self-service library and the goal is paid work at the Whanganui District Library.
“I was a librarian all throughout school, because books opened up a whole world for me.” Rachel is hoping that the same will be true in her future career.
Caption: Rachel Dempsey has hidden messages around Lake Virginia in Whanganui, one of her favourite places.
This story was published in Strong Voices. The magazine is posted free to all IHC members.
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