For years she had experienced having poor balance and odd shaped feet, but her diagnosis did not come until 12 months ago.
Amanda Charlesworth has a condition called Charcot Marie Tooth (CMT), which is a neurological condition.
Amanda, of Horndean, says: ‘I first noticed I moved differently when I was about five and went to dance lessons.
‘Then again at school I had no ‘spring’ in my step, and experienced pain in my ankles if I jumped in gymnastics.
‘My dad was diagnosed with CMT in 1999. I still never thought I may have had it. It took having my second child, Scarlet, now aged five, to question the possibility.’
Amanda says she decided to investigate further and went to her GP, but her GP had not heard of it.
After research, almost a year later Amanda was diagnosed with CMT, which has no cure.
She says: ‘For many years I have experienced poor balance and my funny shaped feet have always been a point for discussion.
‘But over the past 18 months I noticed my feet dropping and turning inwards, my arches seeming more noticeable and my toes turning under.
‘My ankles had become weaker and I frequently went over on my right ankle.
‘I also noticed my wrists getting thinner and was unable to open some bottles, jars or do up small fiddly buttons.’
CMT is named after two French and one British neurologist who defined the condition. They were Jean-Martin Charcot, Piere Marie and Howard Tooth.
The condition causes progressive loss of muscle tissue and touch sensation across various parts of the body.
Neurological expert Professor Mary Reilly said: ‘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.
‘These lead to a range of orthopaedic complications, leading to a variety of mobility and dexterity problems, and sometimes scoliosis.
‘CMT does not describe a single disorder, but a group of conditions.
‘Anecdotal evidence tells us many people 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 and support.’
It’s something Amanda is experiencing and believes her daughter now has and wants to raise awareness of the condition.
She adds: ‘I was finding it harder to get up in the mornings. My muscles often feel tight and contracted, possibly from cramp which I experience most days in my feet, calves and hands.
‘I have never been able to wear high heels, nor court shoes. I can’t keep them on my feet as my toes curl under caused discomfort.
‘Walking has become less of a natural movement. My legs ache after walking for 20 minutes or so and for 15 years I have visited a physiotherapist for pain in my neck, back and shoulders on and off.’
After 14 years of rehabilitating adults with severe disabilities, Amanda felt she was unable to continue with her job.
Her joints became painful and she started to experience fatigue.
She says: My ‘good’ muscles have to work harder which can be exhausting.
‘But being diagnosed gave me a strange sense of relief. It was like all the puzzle pieces finally came together.
‘No-one would like to be diagnosed with an incurable life-altering disease, but having fought off skin cancer aged just 18, I will certainly not let CMT affect my positive outlook on life, no more than it has my dad.
‘No matter how tired I am, I still swim almost every day and practice yoga, and I work part time.
‘My only uncertainty is whether to find out one way or another whether our daughter Scarlet has CMT.
‘We don’t really want to label Scarlet so young, but if it raises awareness, I hope people will be more understanding and supportive towards her.
‘She displays all the same traits as I did, poor agility and balance. She is always tripping over too, like I did.
‘She walks on tip toes and complains of tired legs. Her class, dance and PE teachers have noticed her delay in these areas.
‘We’re waiting for a physiotherapy appointment for her. I just hope she doesn’t have to wait a year for it.’
Disease affects thousands
CHARCOT-Marie-Tooth disease is named after the three neurologists who first described the condition in 1886.
It is thought to affect about 23,000 people in the UK and is sometimes known as hereditary motor and sensory neuropathy.
CMT affects people very differently, even within the same family.
But once you have the condition you slowly get worse over time, causing gradual deterioration of both the motor nerves and the sensory nerves.
Problems associated with CMT include foot bone abnormalities – including high arches and hammer toes – problems with hand function and dexterity, balance problems, occasional cramping in the arms and legs and the loss of some normal reflexes.
It can also cause chronic fatigue and may cause long term pain.
CMT is usually passed on from parent to child, and there’s a 50 per cent chance of a child inheriting the condition.
CMT UK is a charity that raises awareness of the condition and offers support to those who have been diagnosed.
Charity chief operating officer Karen Butcher, can trace CMT back six generations through her family and she passed the condition to her son and daughter.
She says: ‘With this condition, it’s the seemingly little things that can affect people with CMT in a big way.
‘Hammer toes can make wearing shoes painful and most people find it difficult to find suitable shoes.
‘Later in the disease, mobility is greatly restricted, requiring various aids to continue to walk, uncontrollable pain is common and there is difficulty with carrying out tasks requiring fine motor skills, like fastening shoes laces. People should know they can have a reasonable quality of life with normal life expectancy.
‘We want to raise awareness about the symptoms and the support available,in terms of advice on managing the condition, benefits, jobs and family issues.’
To find out more visit cmt.org.uk