Charcot Marie Tooth Disease (CMT)……what does this disease refer too? Something to do with teeth right? This assumption couldn’t be more incorrect but its a common misconception a majority of people make when this disease is talked about. In fact, the disease is a rare genetic degenerative neuromuscular disorder which primarily affects am individuals upper and lower limbs. It has many other names but the disease is mainly known as CMT and is named after the three scientists who first discovered it many decades ago in 1886; Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom. Why am I talking about this disease? Well, it’s because I have it and I want to share my experience of living with the disease on a daily basis.

Symptoms of CMT

It’s important to firstly highlight the clinical symptoms of the disease before I explain how the condition actually affects me. CMT is one of the most common inherited conditions that affect the peripheral nerves. It is estimated that in Europe, CMT affects up to 1 person in every 2,500. In the UK, around 23,000 people may have the condition.  Women and men are equally affected by CMT. The condition also affects people of all ethnic groups. There are many different types of CMT but all of these types have fundamental symptoms which are common across the condition. However, I must stress that the severity of the symptoms of CMT can differ considerably between individuals, even among relatives and family members with the condition. CMT is deemed a highly variable disease with several different types. CMT is a progressive condition where the symptoms gradually worsen over time. The symptoms may become noticeable after puberty when the body is fully developed, however, the symptoms of CMT can begin at any age.

Common symptoms include:

muscle weakness in feet, ankles, legs, forearms and hands,

having feet that are very highly arched (pes cavus), making the ankles and feet very unstable or alternatively, individuals may have very flat feet,

curled toes, which are often referred to as ‘hammer toes,

difficulty using ankle muscles to lift the foot up,

an awkward or higher-than-normal step.

In addition, the legs are shaped in the form of an ‘inverted champagne bottle’ primarily due to the loss of muscle bulk. The progression of the disease leads to muscle weakness and lack of sensation in the individuals hands and arms. This can lead to problems with both manual dexterity and hand strength, making tasks such as doing up the buttons, opening jars and bottles or tying up laces difficult or, in some cases, impossible. The difficulties of CMT are not just limited to the upper and lower limbs and often as a direct result of unstable feet and ankles. Individuals often complain of problems with walking, posture muscle and joint point pain due to excessive strain on the rest of their body. Also, pain can be experienced in the feet, ankles and legs due to over use and wasting of the muscles. The level of pain experienced can range from mild to severe, and many individuals may require additional support from foot or leg braces or other orthopaedic devices to maintain mobility. Less commonly, the damaged nerves may also cause pain, known as neuropathic pain. Problems with mobility and walking tend to get worse as individuals get older. Exceptionally cold hands and feet are also common, caused by poor circulation in the extremities and it is also possible to have some tremor in both the arms and legs.

Causes of CMT

CMT is an inherited (genetic) disorder, which is caused by mutated (changed) genes that you inherit from your parents. The genes involved produce the proteins that affect either the axon of the peripheral nerve, or the myelin sheath. There is no single mutated gene that causes CMT. The many varieties of CMT are caused by different genetic mutations. CMT is an unusual genetic disorder because the mutated genes can be inherited in several different ways.

In order to understand the causes of CMT, it’s important to understand how peripheral nerves function. The peripheral nerves are a network of nerves which connect the brain and spinal cord (the central nervous system) and carry electrical nerve impulses to and from the rest of the body, such as the limbs. The peripheral nerves are responsible for the body’s senses and movements and are made up of two parts: the axon and the myelin sheath. The axon is the part of the nerve that transmits the electrical information between your brain and limbs. The myelin sheath acts like the insulation of an electrical cable. It is wrapped around the axon to protect it and ensure that the electrical signal does not get broken up.

In certain types of CMT, faulty genes cause the myelin sheath to disintegrate. Without the protection of the myelin sheath, the axons become damaged, and the muscles and senses no longer receive the proper messages from the brain. This leads to the muscle weakness and numbness. In other types of CMT, the axons are directly affected. Due to faulty genes, the axons do not transmit the electrical signals at the proper strength, which means that the muscles and senses are under-stimulated. Again, this leads to the symptoms of muscle weakness and numbness. CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.

My CMT Story.

My CMT story began when I was just six years old when my parents first noticed that my left foot was abnormally shaped and was turning inwards instead of being straight. They also noticed that I was frequently falling and unusually tried for a 6-year-old and so they took me to the GP who referred me to various health professionals. At first it was physiotherapists who encouraged me to try out many different exercises to no avail and so was referred to a specialist. I can’t recall what this specialist did but they couldn’t name the condition so it was decided that I have corrective surgery.

The doctor explained to my parents that the surgery would lengthen my tendons and correct the position of my foot. I remember being a frightened 7-year-old saying to my mum as I was wheeled into theatre ‘I don’t want to have an operation’. Poor mum was just as frightened as I was but she never showed it and instead she eased my fears. The surgery was successful and it dramatically improved my ability to walk without much difficulty. I returned to the ward from theatre with one foot in a cast in total agony. The noticeable improvements as a result of the surgery were short-lived and at the age of 12 I underwent similar surgery on my right foot followed by the final surgery at the age of 13 to straighten my hammer toes.

Each of these surgeries was intended to make ones daily life easier and to a greater or lesser degree it has. They were all carried out in the West Midlands where I used to live before but my last surgery was carried out after we moved to London. The diagnosis of CMT followed the final surgery and was for CMT type 1a. A diagnosis of the most common type of CMT couldn’t have been further from the truth as one has recently been informed. One still awaits the accurate diagnosis for which type one has of the disease. It’s important to highlight at this moment that NO ONE on either my maternal or paternal side of the family have the disease. It is my brother and I who exclusively have the condition ha!

The first two surgeries were relatively simple to cope with and after the removal of the cast; it was only a matter of weeks of intensive physiotherapy that I was walking again. It was this third and final surgery in which I experienced the most amount of pain primarily due to having had metal pins pushed into each toe to assist in the fusion on the toes – on both feet at the same time. The pins began at the centre of the tips of each of my toes and were driven in to fit the entirety of my toes. Ouch! I’m glad I was asleep during this procedure. They really were a pain and a half. I was restricted by these pins in more ways than I care to remember but one particular issue I endured was being unable to sleep with the duvet over my feet due to the risk of them getting caught on the cloth and being pulled out. I couldn’t really go out anywhere because they were such a nasty hazard. Oh and lets not overlook the glory of the pain I experienced, what an insult that would be to pain itself. They hurt all the time too for the entire six weeks is a dire underestimation! The day they were removed was a small reflection of the trauma and pain my body may have felt during the insertion on the pins under general anaesthetic. It was the worse type of pain anyone could possibly experience in cold blood; I’ll never forget the agony I endured that day at the hospital. I never expected them to be pulled out in that manner.

The manner in which CMT affects me is primarily dependent on a number of things; including the severity of the symptoms, level of fatigue, weather, task and stress levels. These all interact to a greater level than most specialists like to admit and specifically in my case the weather and levels of stress play a big role in my overall mobility. Some of the most noticeable symptoms of CMT which I experience include my limited ability in picking up my feet while walking, standing or walking for extended periods of time, balance, use of stairs, and limited sensation. These symptoms and problems have often led to falls, tripping or extreme fatigue and to alleviate these issues I was referred to a team of orthotics following my final surgery.

I remember the first ever fitting appointment I attended and the new AFO’s (ankle-foot orthotics) felt like I had been given new legs! In the beginning they caused a great deal of pain and discomfort but they gave me the vital confidence and freedom I needed in adjusting to a new concept. I must stress though that I wasn’t always confident with having this condition and my early school years were riddled with incidents of bullying and discrimination. My time during my school years both here in London and in the West Midlands was spent very much in isolation, more so in the West Midlands. I wore my AFO’s everywhere even to school and it dramatically changed my life. My peers at school were none the wiser about them unless I shared the information. I was also provided with night AFO’s, which I never wore at night and instead I wore them during the day at home when watching TV! The AFO’s did have their limitations such as using the stairs, participating in sports at school and wearing anything other than lace up ‘man boots’. I ceased wearing my AFO’s after I finished school but I strongly feel that those 3 full years of continuous usage has contributed to my present level of mobility. I challenge anyone to make a significant effort to sleep in them though!! Once I finished school, I became much more independent and living with the condition became easier to an extent. However, to this day I still experience the same symptoms as I did when I was a child and often to a greater degree of severity.

Each and every aspect of my life is dictated by my physical state at the beginning of the day. My biggest daily challenge is keeping mobile from the moment I wake to the moment I sleep again. Every morning the muscles in my legs are very stiff, often needing up to a full morning to walk without difficulty. This can lead to large amounts of pain and discomfort not to mention disruptions to my day. When the weather is very cold, I experience a great deal of difficulty in all aspects of my life. There are days when I cannot go out because the weather conditions cause me a great deal of pain and fatigue. It causes my muscles to tremor; cramp, or worse still lose all complete sensation in my feet. I often get strange looks and comments passed at me because I appear to be ‘drunk’ due to instability. In my local supermarket I often request assistance in carrying my groceries to the car and the assistant at the checkout looks at me with contempt as if I’m just bone idle. Many pass a comment saying, you look fit enough to carry a couple of bags of shopping to which I reply, oh sorry I’m not in a wheelchair today, I’ll remember for next time. Now if it’s not too much trouble can a disabled person please get some assistance with her shopping to the car? My outwardly appearance is very often believed to be of a ‘normal’ individual but people don’t seem to realise that my condition is very variable and from day to day. The simple task of carrying a couple of bags of relatively light shopping can be hazardous as losing my balance while walking could cause a nasty fall. When people socialise they are usually aware of the item of clothing they intend to wear and often don’t give a second thought to what they will wear on their feet, usually its shoes for gentlemen and heels for ladies. I on the other hand operate from bottom up, i.e., what can I wear on my feet for this occasion which is comfortable and appropriate? Often a challenge and can be limiting as finding the most appropriate and comfortable shoes is impossible. Opening bottles and jars, tying up laces, peeling vegetables, and sometimes holding cutlery is a big challenge. These are just a few examples of my daily chores with CMT.

Do I sound depressed or grim? Some of you may well believe so but this couldn’t be further from the truth. I lead a positive, optimistic and productive life. I know what my limitations are so I don’t dwell on them; instead I look towards overcoming them differently. My life is pretty normal, I don’t fear having this disease and I certainly don’t allow it to restrict me in any way. I do a lot of volunteering, I’ve attended university, I socialise with my friends and family, I swim, I enjoy cooking, reading, travelling and I drive a car. I am content with my life as today; I’m a young woman who has achieved all which she has desired and more. Having CMT has slowed me down, but it certainly has not restricted me from living my life exactly the way I have intended. My family and friends are wonderful and are very supportive, they are my angels. I have learnt to accept and adapt to life with my disability, and I have learned to recognise and accept when I need assistance. This I interpret as a challenge, which I accept and strive to overcome. There are days when I do feel very low and it can be for many different reasons, pain and fatigue are common but who doesn’t have off days. It’s what makes us human.

In a nutshell that’s my life living with CMT.

Best wishes,
Maahi PM

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