Emma living with disease
Emma wants to raise awareness of the complex disease
A COMPLEX neurological disease has not stopped Emma Brown when it comes to work, relationships and driving.
Emma from Hinckley needs a wheelchari to get around but wants to prove that she will not let Charcot-Marie-Tooth disease take over her body.
Named after those who described it in the 19th century, CMT is the most common inherited neurological condition in the UK.
“My body is giving up, but my mentality won’t” says Emma.
Now aged 34 she is one of the 25,000 people affected by the disease in the UK, forced to live with a lack of mobility and fatigue due to the condition’s impact on her body.
“Nobody knew what was happening,” she explains, “Eventually, a neurologist started doing blood tests, and then at 14-years-old, I was diagnosed with CMT.”
From a very young age, Emma had an abnormal walking gait. Before her diagnosis doctors believed that one of her legs could be longer than the other.
As her symptoms progressed, Emma’s knee would repeatedly dislocate, causing severe pain and discomfort. It meant that she could not take part in sports and games in school.
While she was still yet to be diagnosed with CMT, Emma grew to be very self conscious of the impact it was having on her body. At the age of 11 being unable to join in with friends left her feeling very lonely. She said: “Not knowing what was going on with my body made me feel very frustrated and very isolated from people, I was the person that nobody wanted in a team.”
Emma was forced to take rest days from her school, John Cleveland College, which she says made her condition worse.
At this point her knee was so swollen, that she could only sit with her leg raised.
After being off her feet for a period of time once she started to walk again it was much harder due to her being so fatigued.
Consequently, her right foot twisted inwards, and Emma’s walk was now noticeably different.
Emma was given plastic splints to aid her mobility, but simple tasks such as putting her shoes on, left her in unbearable pain.
Doctors gave her crutches as her walking got worse. She had to use a wheelchair at school. However as a teenager this left Emma feeling self conscious and she resorted to working from the library every day.
“If I had known all the facts about CMT when I was younger then perhaps I’d be more mobile today.
“Using the wheelchair at school kept me safe, but had a detrimental effect on my body.”
Emma has been using a wheelchair permanently since the age of 17.
After suffering from weekly knee dislocations for five years, she received knee surgery followed by an operation to lengthen her Achilles’ tendon, due to her foot being severely twisted inwards, and had her toes broken and straightened with pins to enable her to wear shoes.
The investment analyst worker for Hinckley’s Cadent Gas, says that after years of increased nerve damage, her hands are worsening, which means that she has very little strength in them.
She now needs assistance in getting showered, dressed and being transferred from the toilet or bed.
“The last few years have been very difficult as I now have to have my food cut up and I’m unable to lift a cup to drink.
“Drinking a cup of hot coffee from a straw just doesn’t taste the same.”
However, despite having spent most of her life in pain, this has not stopped Emma from reaching personal goals and achievements.
She recently celebrated after buying her first home with her partner, Bobby Hartshorn, who she says is super supportive of her condition.
“I feel very lucky to have such a supportive partner who has seen firsthand the disease slowly take away my independence over the last 10 years.
“We take each day as it comes, fortunately we work together so I can keep going to work, which enables me to contribute and enjoy our lives as best we can together.”
Emma has said that her colleagues are also very supportive of her condition, and help her with daily struggles, to ensure that her disability does not affect her quality of life.
She adds: “Work is a big part of my life and I wish to continue as long as I’m physically able to.
“Even the fact that I can only type with the knuckle of my baby finger doesn’t stop me pushing myself and progressing up the career ladder.”
Emma’s most recent battle has been her tiredness, which took its toll in 2016 when she fell in the shower after falling asleep.
Extreme fatigue meant that Emma had been continually falling asleep in various places, even at work, so she enlisted the help of her doctor who referred her to a sleep and respiratory clinic.
“I was unable to lie down to sleep at night, and I just felt like I was suffocating.
“I was suffering with headaches every morning and was resigned to sleeping upright in bed for months,” says Emma.
After 9 nine months of failed sleep clinic tests, Emma received a lifechanging appointment with a respiratory clinic. “I’ll never forget that appointment,” she said.
“Within seconds of meeting the doctor he placed his hand on my diaphragm and asked me to sniff and that was it.
“CMT had caused respiratory muscle weakness. “I was relieved to finally get help.” Doctors found that Emma’s lack of sleep was due to her being starved of oxygen when she lay down, which was also the cause of her morning headaches.
She now uses a ventilator at night to help regulate her breathing and has yearly blood tests to check her blood oxygen levels.
“Since the diagnosis I’ve never slept better, which is a huge relief,” explains Emma, “However, the impact of the extreme fatigue over several years has really taken its toll.
“My fingers, hands and arm muscles have deteriorated rapidly.”
Emma is just one of around 25,000 people who suffer from CMT, and its various forms.
CMT is a genetic condition that damages the peripheral nerves - these are responsible for passing on commands from the brain to the muscles and for passing information to the brain about sensations such as heat, pain, cold, touch and most importantly, balance.
When these sensory nerves become damaged, people are said to have neuropathy.
Because of the nerve damage, sufferers of CMT disease may find that their muscles become slowly weaker over the years, particularly in their feet and hands.
In some cases, the feeling in limbs can become duller and numb in the same areas.
There are numerous types of CMT. Emma suffers from type 1A, which runs in her family.
Her grandmother, mother and brother all suffer from the condi- tion, while her two sisters are not yet showing any symptoms.
Research is still continuing into Charcot-Marie-Tooth disease, but in the mean time, Emma hopes to spread awareness of the condition, its symptoms and impact on her day-to-day life.
“I would like to raise awareness to help people understand what CMT is, and increase donations to the charity to fund research for treatments or a cure,” explains Emma.
“Ultimately, I want to inspire people with any disability to live their lives fully, regardless of disability.
“I could easily sit at home without a job, but I want to prove to people how able I am.”
For more information or to fundraise or donate for Charcot-Marie-Tooth disease, visit the website at http://cmt.org. uk/.