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WTF is CMT!?

A CMT Awareness poster is available as a free download from www.cmt.org.uk

CMT.ORG.UK

A CMT Awareness poster is available as a free download from www.cmt.org.uk

Marley Amphlett, ECU Reporter

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Charcot Marie Tooth (CMT) disease may have an unusual name, but there is nothing funny about having it. Individuals who are diagnosed face a lifelong challenge, as there is currently no cure.

The disease is hereditary and affects 1 in 2500 people. According to the Hereditary Neuropathy Foundation that’s approximately 2.8 million people worldwide. CMT can occur in any gender, race or ethnicity and it’s often difficult to diagnose.

Jeana Sweeney, Director of Community Services for CMTUSA, said: “Lack of awareness is, I believe, caused by many things, one is the name ─ Charcot Marie Tooth, folks living with CMT often hide their diagnosis due to embarrassment or lack of understanding of the disease. Many people have CMT and don’t even know it. They may think they’re just clumsy. Most doctors aren’t familiar with CMT either.”

CMT was named after its three founders; Jean Martin Charcot, Pierre Marie and Howard Kenny Tooth. It is often mispronounced and has absolutely nothing to do with dentistry.

Here’s how to say it correctly: “Shar-Koh- Mar-ee Tooth.”

According to the Charcot Marie Tooth Association Australia (CMTAA), a voluntary support organisation, symptoms are varied among those who are diagnosed with the condition. They include but are not limited to:

  • Degeneration of the nerves in the feet, legs, arms and hands,
  • A sense of feeling fatigued, unbalanced and uncoordinated,
  • Bodily tremors and a lack of fine motor skills.

September is recognised annually as CMT awareness month; CMTAA, the United Kingdom and the United States organisations all celebrate the occasion. Organisers also hope to raise much needed funding in order to research a potential cure.

Helen Inglis, administrator for Charcot Marie Tooth Awareness, said: “Awareness of CMT needs to be spread to the general populous. With awareness, brings more chance for funding to find a cure.

“Currently there is no cure. It is a relatively rare genetic disorder, some people can be affected mildly, with others severely and eventually losing the ability to balance and grip. This is due to muscle wasting in lower arms, legs, feet and hands.”

Former senator, and current member of the House of Representatives, Matt Thistlethwaite, raised the issue of CMT in the senate in 2013. He noted  the need for more investment for research into the cause, care and cure of CMT and called  on the Government to provide funding for projects which will lead to the eradication of CMT.

For most of us breathing, swallowing, walking, running, using a staircase or taking the lid off a bottle are simple, everyday tasks. These tasks are the stuff of nightmares for those with CMT.

“Sometimes I think my family don’t always comprehend the effort it takes being me! Just having a shower is a nightmare!” said Helen Blackwood.

Mrs Blackwood, newly diagnosed with CMT, said the lack of awareness was “because it’s a silent disease, there are really not many outward signs that there is an issue. People ask me all the time what’s wrong with your leg/why are you limping? It’s easier to say I have a bad hip than go into the actual disease. Plus, it’s not really highlighted, as with similar diseases such as Multiple Sclerosis and Muscular Dystrophy.”

Mrs Blackwood endeavors to keep active by working one day a week and seeing a personal trainer regularly. She explains some of the options she uses to combat her CMT. “You can wear splints/braces to help with foot drop. The physio I saw initially wanted me to wear them, but I don’t want to. So, I go to a personal trainer three times a week for strength training. The motto is ‘use it or lose it’.”

Mrs Blackwood finds support online, however, she has so far been unable to locate any physical agencies for help. “There are none in my area that I have been able to locate as I am in regional WA. It’s handy to read people’s thoughts and feelings online. But I would say I am not as affected as a lot of others and sometimes things posted are quite confronting. It gets me thinking about what the future will hold for me.”

Gloria Green, a Mandurah resident living with CMT, explained that: “People don’t even understand this disease, so it is very difficult to converse with anyone about it. I am just the ‘wobbly’ person.”

Officially diagnosed in 2013, Mrs Green explains that it took a number of years for doctors to reach that conclusion. “It took a long time to be diagnosed as I am adopted so there was no family history.”

Mrs Green still has her independence and likes to travel. So how does she do it?

“A positive attitude is paramount. I walk with a stick, I have never got the hang of AFOs (Ankle Foot Orthosis).” Mrs Green described her recent getaway. “I have many friends that I consider as family in Bali and they look after me exceptionally well. I am still able to ride on the back of a scooter I just need a curb to stand on to get on and off.”

Professor Joshua Burns, Conjoint Professor of Allied Health (Pediatrics) with the Sydney Children’s Hospitals Network, explained that while there is no cure, he is researching ways for children with CMT to improve their quality of life. “I’m in the process of creating an educational resource outlining how to exercise safely and effectively, and finding the equipment required to maximise the benefits,” he said.

The treatment is called Progressive Resistance Exercise and was recently hailed as the first effective treatment for kids with CMT.

Marcus, aged 12, is a child diagnosed with CMT. He describes the condition: “CMT is a disease that affects muscles and makes them weaker over time. People get it from their parents. I was six years old when I learned of it,” he said.

Marcus explained the kinds of treatments that children are able to use: “Physio, stretches, swimming, leg braces, surgery and OT [Occupational therapy], also serial casting and pain medicine.”

Like Mrs Green, Marcus (and his family) continue to go on holidays.

“It’s okay for me travelling if I can stretch my muscles, if I don’t have to walk too far and if there is not too many stairs.”

So how does CMT affect his school and physical activities? “I would say it can be hard sometimes but I just do my best,” said Marcus, “I wish I was better at sports and could play sports with my friends.”

For more information visit here.

Image used with permission.
Marcus does not let his CMT stop him from expressing his creative abilities.

 

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Quality journalism by ECU students
WTF is CMT!?