Treatments exist for many of the complications of CMT, but at present there are no disease-modifying therapies to either halt the progression or cure CMT. However, many aspects of the condition can be managed for most people.
Current treatments include physiotherapy, orthotics, occupational therapy, pain and fatigue management and – when indicated – orthopaedic surgery, speech therapy and respiratory support. It is important to be aware of these treatments because people are sometimes told by their GPs that there is no treatment for CMT and therefore no point in referring them to specialists such as neurologists, paediatricians, orthopaedic or surgeons, to name a few.
Your CMT should be treated by people who know about the condition. This means your treatment should be overseen by a consultant neurologist (or paediatric neurologist) with a specialist interest in peripheral neuropathy (which includes CMT) or a rehabilitation medicine physician with an interest in neuromuscular conditions. The specialist should work in partnership with your GP.
A neurologist specialises in understanding how your nerves work, what can go wrong with them, the likely course of any problems, and what treatments and care options should help. And, importantly, a neurologist can refer you to other specialists who can help with specific problems as needed.
In the real world it can be difficult to see the right neurologist as there are just not enough doctors with this type of knowledge. There are less than 50 neurologists in the UK with particular speciality in peripheral nerves. However, there are 550 to 600 neurologists who will be able to give you very good care and who will be able to liaise with their specialist colleagues on any issues they are unclear about.
In effect, you may go for long periods of time without seeing a helpful neurologist. In this case, do not despair as there are many other healthcare professionals who should be able to help.
- geneticist with an interest in neurology – they may not have the breadth of clinical knowledge, but will have a deep understanding about genes and the possible progression of your CMT.
- specialist paediatrician – a paediatrician (ideally a paediatric neurologist) is a doctor who specialises in child health and is probably the best person for a child with CMT to see.
- physiotherapist – preferably one with a special interest in neuromuscular conditions, but even if this is not possible, a physiotherapist can work with you to help your body function despite the effects of CMT.
- orthotist – a specialist who works with braces, supports and splints to help provide you with support and avoid some of the secondary complications of CMT.
- occupational therapist (OT) – OTs are expert problem solvers, helping you to continue to do day-to-day tasks despite any disability. They can be especially helpful in helping overcome work-related issues.
- podiatrist – sometimes called a chiropodist – specialists in foot care.
- orthopaedic surgeon – a surgeon who specialises in bone and joint surgery. Preferably you should see one who specialises in foot and ankle problems.
- rehabilitation specialist – a doctor who works to get you back on your feet following a health setback.
- neuromuscular nurse specialist – increasingly, neuromuscular clinics in the UK have specialised nurses attached to them. These nurses are usually contactable by email, text or phone outside normal clinic times and provide a wealth of information and help for patients.
Getting the most out of a consultation
A visit to the doctor can be stressful. To quote Blaxter (1983), “a consultation presents incompatible obligations: to be brief and helpful, not waste time which is manifestly in short supply, and yet somehow to tell the story of a life in all its long detail”.
To help you get the most out of your time with your doctor, think about the following:
Prepare for your visit
You may only have five or 10 minutes with your doctor, so think about what you want from the appointment. Make a list of questions and important symptoms and consider taking a trusted friend or relative: they can take notes and remind you of questions you wanted to ask. It can be helpful to bring along a list of any medication you are taking.
Tell your doctor everything he or she needs to know about your health, even the things that you may feel embarrassed about. This is why a list of questions and key points can be useful.
Feel free to take notes and to ask questions if there is anything you do not understand.
If need be, get a second opinion
Do not feel shy about asking for a second opinion, especially if you have to make an important decision about treatment options, like surgery, for example.
Get information about what comes next
Make sure your doctor shares any information from tests and tells you what you need to do next. You should receive a copy of your clinic letter from your specialist. Make sure you have a contact number for the secretary or nurse specialist in case you have any queries.
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Consent for procedures
Before having treatment, particularly surgery, you will be asked for your consent (permission). Before giving this you should ask about:
- the percentage success – and failure – rates
- what will happen during the treatment
- why you need the treatment or procedure
- what could go wrong
- whether there are any alternative treatments
- what would happen if you did not have the treatment
This is called informed consent and is a legal procedure that all medical staff in the UK should follow before giving you treatment. Even after giving your consent, you are within your rights to change your mind.