I ACNR • VOLUME 7 NUMBER 2 • MAY/JUNE 2007 I 37 I was born with Charcot-Marie-Tooth Disease (CMT) also known as hereditary motor and sensory neuropa- thy and peroneal muscular atrophy. Diagnosis is a matter of luck as most GPs do not recognise the disease. I was diagnosed in my early twenties by Dr PK Thomas at the Royal Orthopaedic Hospital in London. Diagnosis in childhood would be ideal, as muscles can be strengthened as much as possible to try to manage the illness and avoid unnecessary injuries. I had a genetic test in the nineties that showed that it was CMT type 1a, the most common type. It is a domi- nant gene, common to both sexes and each child of an affected parent has a 50% chance of inheriting it. In my case, my father had the gene (unbeknown to him) and two of his three children inherited it. My sister, the only one of us to have children, has also passed it on to two of her three daughters. The disease is progressive and affects the peripheral nerves by damaging the myelin sheath and slowing down the messages to the muscles. This has a negative effect on sensory information and muscle function in the hands, forearms, lower legs and feet. “This can lead to foot bone abnormalities such as high arches and hammer toes, foot-drop walking gait, scoliosis (curvature of the spine), muscle cramping, problems with balance and hand functions, and the loss of some normal reflexes. It can produce chronic pain and fatigue, and in rare instances it may cause severe disability, but it is not life-threatening and does not affect life expectancy. Despite being the most common inherited neurological disease in the world – it affects approximately 1 in 25000 of the global population – CMT is not widely understood.” Charcot-Marie-Tooth Disease, A Practical Guide, compiled by CMT International, UK in 2000. I have the results of motor conduction velocity tests taken by Dr PK Thomas in the late sixties. He included the results in a paper he published: “Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy)” – in 1974 By PK Thomas and colleagues and these are listed in Table 1. After the diagnosis, I was told that nothing could be done, so I had no more contact with neurologists from my early twenties until my fifties. I had no further informa- tion until I discovered CMT International/UK (http://www.cmt.org.uk), an organisation started in Canada in the late 80s by CMT sufferers to offer support, information and practical advice to fellow sufferers. I started walking unsupported quite late and always had trouble picking up my feet. This gradually got worse and resulted in totally drop feet. I experimented with boots until I was able to find some that were light enough and supportive enough to help me to walk (tying the laces very tightly). I have torn ligaments in both feet many times. After a failed tendon transplant, my left foot was fixed in position and I wore an elastic bandage on my right foot until I discovered Silicone Ankle Foot Orthosis (SAFOs) (see below). In the 90s the local surgical appliances people made me some plastic orthotics. These were totally useless and very painful and were termed “crass” by a foot specialist I showed them to. Circulation to the extremities is a problem. My feet were often icy cold, but for the last two years I have been taking Tamoxifen for breast cancer. This now causes uncomfortable menopausal symptoms such as hot flush- es, night sweats and burning hot feet. Having no muscles in your feet to lift them up and stop your ankles from twisting makes them very floppy, bony and lacking in padding. The toes also curve and big toes can fracture because they can turn under. I see a chi- ropodist regularly to deal with callouses and toe problems and wear jelly inserts and toe padding to keep the toes straighter. The thing that has helped me most was the discovery of SAFOs, that are made by Dorset Orthopaedics (http://www.dorset-ortho.co.uk). These are silicone orthoses that look like boots with the toes and heel cut out. They are wonderful supports for drop feet while being soft enough for fragile feet. The down side is the cost, which is very high, circa £650 per foot*, and trips down to Dorset for the fittings. I tried to get funding for them but was turned down. I started dislocating my left knee-cap from the age of nine, and the right one from the age of 14. My father and sister also had/have dislocating knee problems. My knees became so lax that they sometimes dislocated in the action of sitting down and both were operated on in my twenties. One operation was successful for almost thirty years, but the other knee dislocated so badly a few years later that the tendon snapped and my knee-cap rose at least an inch higher up the leg. It is now kept in place with an elastic support. I developed osteo-arthritis in both knees from the age of 30. I occasionally had them drained and had cortisone injections. Eventually I became very immobile and was in a lot of pain. I am allergic to anti-inflammatories and aspirin, so I relied on ice-packs and paracetamol. I later had two arthroscopies and a new right knee when I was about 56. By that time my leg was totally unstable and I could hardly stand. Because of all the dislocations and operations there is a lot of scar tissue, which prevents me from bending the new knee much. I have to be very careful not to trip, espe- cially as my right knee doesn’t bend much and my toes Living with Charcot-Marie-Tooth Disease Personal Experiences of Neurological Disorders Helen Thomas Diagnosis in childhood would be ideal, as muscles can be strengthened as much as possible to try to manage the illness and avoid unnecessary injuries Median Peroneal Age (hands) (feet) My father 26 13 65 Helen (me) 10 14 22 Leslie (sister) 27 19 23 Anna (niece, 1998) 16.5 24.5 24 (My niece’s tests were taken in Finland) Table 1: Motor nerve conduction velocity (ms-1) *At that time, the cheaper Safo Walk was not avail- able.