Mystery illness made me look like a drunk
THROUGHOUT his childhood Colin Tyrie was always falling over, ripping his trousers, grazing his knees or spraining his ankles.
Most of these tumbles were simply put down to clumsiness but it wasn’t until the age of 30 the real cause of his difficulties was revealed. “My parents knew something was wrong at a very early age, as I didn’t walk until I was two,” says Colin, 53, a former nurse from Didsbury, Manchester.
“School wasn’t too bad as I was quite resilient and found ways of mocking myself for being clumsy and pigeon-toed before anyone else could.I dealt with school by not being too sensitive and being able to laugh along with other kids, although it did knock my confidence,” explains Colin, who is married to Catherine, a social worker, and has three daughters Amba, 17, Billie, 12, and Stevie, 10.His symptoms worsened after he left school. Having surgery on his foot disrupted his studies and he dropped out of college before later becoming a nurse.
“My PE teacher also noticed something was wrong with me as he could tell when I was running I wanted to do well but couldn’t as I was so clumsy, awkward and always falling. He was always taking me to the school nurse to get me patched up.
“I was asked quite a few times by colleagues if I was a heavy drinker because of the tremors in my hands and the way I wobbled when I walked but I wasn’t.
“In my late 20s I stared getting pains in my foot again, so I went to see an orthopaedic consultant and the doctor mentioned Charcot-Marie-Tooth (CMT). I was assessed and tested and lo and behold, it was positive. I finally had a diagnosis.”
Charcot-Marie-Tooth is an inherited neurological disorder named after the three scientists who discovered it. Steadily progressive, it causes muscle weakness in the lower legs and hands, leading to problems such as hammer toe, restricted mobility, uncontrollable pain and difficulty with carrying out tasks that need fine motor skills, such as fastening shoelaces.People with CMT, however, have a reasonable quality of life with normal life expectancy.“CMT has many different characteristics but commonly there is a loss of muscle and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease,” explains consultant neurologist and CMT expert Professor Mary Reilly.
I was asked quite a few times by colleagues if I was a heavy drinker
“These lead to a range of orthopaedic complications, leading to a variety of mobility and dexterity problems and sometimes scoliosis.”Colin says: “I was shocked because I’d already had one child and it threw open the possibility of passing it on, it became quite a responsibility.“However I was also relieved to know what I had. It gave me confidence as it made sense of everything that had happened to me in the past, such as writing slowly and running in a funny way. It felt liberating to eventually get a diagnosis.”
It is estimated that there are around 23,000 people in the UK affected by CMT but the vast majority do not know they have it. CMT UK, a charity that supports sufferers, is in contact with 3,000 people with the condition but is hoping to reach around 20,000 others in the UK who could be unknowingly struggling with CMT.
“We want to support people with CMT who could be trying to deal with the condition on their own,” says the charity’s Karen Butcher.
“We know what they’re going through and the challenges they face so we can answer their questions, put them in touch with other people and families with CMT and tell them where they can get practical support and advice.”The charity says that while CMT is incurable, an early diagnosis can improve the lives of those with the condition as it can be managed more effectively and proper genetic counselling can be received.“CMT does not describe a single disorder but a group of conditions,” says Professor Reilly.
“It is important to determine exactly what kind of CMT someone has in order to improve their quality of life and this can only be done once a diagnosis is considered in a patient.
“Anecdotal evidence from CMT UK tells us this takes longer than we would like and many put up with CMT for a long time, thinking they are clumsy or have funny feet, suffering in silence when they could be receiving help.”