My first experience is as a mum of a son diagnosed with CMT at the age of 3 yrs (around 1983) and as far as I’m aware, there are no other family members with the condition. My son was a late walker and at the stage when babies walk on tiptoes holding someone’s hands, my son used to just bring his legs up off the floor and wouldn't take his weight at all. I was told by health visitors that he was just a late developer and that as I was a Nursery Nurse at the time that I 'knew too much and was imagining it’! Then when he did eventually walk unaided, he was always falling, losing his balance and tripping up. He was always a boisterous child with a very strong personality, which he still has and was labelled “clumsy” by Health Visitors and Pre-school supervisors.

Eventually, after numerous visits to Accident and Emergency units locally, I insisted that our GP referred him for further investigations, as I felt sure that it would not be long before we were being accused of non-accidental injury. We were initially referred to an orthopaedic surgeon, who ruled out any abnormality from his perspective and referred us on to a consultant neurologist at our local Children’s Hospital. He carried out a muscle biopsy and the diagnosis of CMT was made.

Since then have had wonderful support from all health professionals involved. My son is now an adult, as yet with no children of his own. Over the last 20 years or so, he has undergone several operations on his feet and legs and the staff at the Hospital were superb and cannot be faulted. He has only had one operation as an adult and the post op care was poor, due to the usual lack of staff etc.

He is a very independent person and luckily is able to hold down a full time job, although the CMT is gradually worsening. Fortunately for us, our son is a strong character and very rarely seems to let the CMT get him down, although as a mother, I naturally worry about him even though he is now 25 years old.

His sister, who is unaffected, myself and my ex-husband, had blood taken for genetic testing and never got any results back, or any explanations given to us. His sister is herself now expecting her first child and does not wish to have any screening tests, as she would not terminate for any abnormality. She has no worries or concerns as to whether her baby will have CMT. She has seen how her brother coped and myself, and would not be put off.

The second experience was several years ago. I am now a qualified midwife and I was working in a maternity unit. We had a client [Mrs A] with CMT, and when I read her records, she had several terminations of pregnancy as the foetuses were diagnosed with CMT. Although it was obvious that this lady’s CMT was a lot more severe to my son’s, I was upset and not able to care for her. All I kept thinking was, if given the opportunity at the time, I had thought the same and terminated my pregnancy with my son, I would have missed out on a lovely person being part of my life. I was deeply affected by the client’s decision, and I know that as a health professional we should be non-judgemental but it hit home so hard and in 10 years as a midwife, this was something I could not face. My own personal life came into my work and all I could think at the time was that if I’d had the choice to terminate my lovely son, what a great mistake that would have been. The lady never met me and was obviously unaware of how I felt.

One of the most important things that health professionals can do, in my opinion, is to listen to parents who comment on their baby’s/ child’s health and well-being and not to make them feel like they are neurotic! I can back this up as a health professional myself now and to listen to what someone is saying, as they know how they feel and how their baby/ child normally behaves. They are only in the presence of a health professional for a few minutes a day, whereas they have the baby/ child there 24 hours a day.

I think care could be improved by health care workers listening and acting on what people say, and also, to make more doctors aware of CMT, my son had junior doctors in A&E trying to test his reflexes, CMT sufferers do not have any! I told the doctor involved that and he chose to ignore me.