“I used to fall over all the time. I can’t run, or hop, I struggle with jumping, and my handwriting is unreadable at best,” writes 18-year-old Steph Davis, who is living with Charcot Marie Tooth (CMT).
For many people, the diagnosis of (CMT) comes as a shock. For Ms Davis, though, she said “it really didn’t bother” when she was diagnosed with the disease.
She was nine.
“It was something that was hard to explain to other people, but it also answered a lot of questions,” she said.
Research has indicated that as many as one in 2500 people in Australia could have CMT. While it is not life threatening, people with CMT have it for life.
The disease causes slow degeneration of the peripheral nerves including feet, legs, arms and hands as muscles weaken due to the loss of stimulation by affected nerves. It is an inherited neurological disease with no known cure, and the severity and symptoms can vary.
It was something that was hard to explain to other people, but it also answered a lot of questions.
For Ms Davis, it took specialists six months to diagnose her with the condition.
“Because it affects people in different ways, it often gets misdiagnosed. The only person I knew who had it at the time was my mum – she found out when I did,” she said.
Between 2011 and 2016, Ms Davis had two operations. The first lowered her arches and partially corrected her walk to minimised her falling. The second corrected her hammer toes by fusing joints, shortening bones, moving tendons and placing wire in eight toes.
On June 17, 2017, Ms Davis organised and held a trivia night at the Yass Golf Club to raise funds to take part in the ‘CMT Kids UK Trip’ in July 2018.
About $2150 was raised in the end, with individuals, community organisations and businesses playing their parts.
She organised and conducted the event all the while studying in her final year of high school. “There were at least 100 people on the night,” she said.
Jillian Critchley, committee member of CMT Association Australia (CMTAA), and her family drove from Sydney to Yass to attend the fundraiser as a surprise.
“We wanted to show our support for her hard work. It’s been a labor of love for her to help the cause,” Ms Critchley said.
The CMT Kids Weekend in the UK will provide a supportive environment for children and young people with the condition. It comes after the inuagural even in Australia where 10 participants from the UK visited Australia.
“It’s about helping them look at their abilities, not disabilities; it’s to say ‘we can’t feel sorry for ourselves and we can do a lot if peers and family encourage us’,” Ms Critchley said.
“They are kids, but they will turn into adults, so we’re giving them the tools to look after themselves.”
Ms Davis said she looked forward to meeting old and new friends in the UK.
“I made some good friends last time and it’d be great to see new people over there. The main thing is to build connections,” she said.
Her goal of the trip is to spread awareness. “I just hope more people can learn about it. Not many know what is and how it can affect people,” she said.
To learn more about how you can help Steph Davis, visit her Go Fund Me page.