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Points for Reflection

How would an individual (adult) receive information about the inherited aspects and reproductive implications of a condition like CMT today?

Activities

1. If you were approached by a person in Eleanorís situation, what information would you give them?

2.What would you say?

3. Where would you suggest they went to seek further information about their situation?

4. Using the information she gives in her story, draw Eleanorís family tree.

An example of Eleanor's family tree and suggested further questions can be found here.

Quotes

"In the sixties I was told in 1966 I was told I must never have children. That was the actual words given to me by a neurologist. And so therefore I became, I suppose in some ways, anti-men and I became very much a career woman. And it wasnít until the middle seventies when I met Alan, we then got married in the early eighties, so I was late going into the marriage field. Had I not been told that in the sixties, then my life might have been different."

"I didnít have the support that I would have liked to have had so I suppose... I felt very isolated being told something like that."

ďMy sister wonít talk about it. She has actually said to me ĎYou donít want to go to groups and mix with people like that."

ďAt times itís been quite frustrating because people donít always understand. And Iím not just talking about professionals, but friends, family and you can often feel very much on your own."

Further information

CMT UK

US National Library of Medicine, Genetics Home Reference - Charcot-Marie-Tooth


Location: The Stories
Transcript

You can download the full transcript here

Living with Charcot-Marie Tooth: A wifeís tale
Eleanor describes her experiences of life with an autosomal dominant condition

Well thank you for coming. I just want to start of by asking you to tell me how did you find out about the condition in your family?

I have obviously had something from birth because as a child I fell a lot. Sprained ankles, bad knees and things like that. But it wasnít really until I was in my teens when I ran for a bus...obviously broke a bone in my ankle. The doctor put it in that elastic sticky bandage and when it came off I was left with this lump.

When I went for physiotherapy they found Iíd no reflexes in my knees. I went into hospital but I was never told what was diagnosed. And when I started work in the early sixties, I was working on an orthopaedic department and I had to have operations on my feet. And they sort of took over and at first gave me the diagnosis of an undiagnosed polio - because I had lived through the polio epidemic after the war...and then a rare form of muscular dystrophy...and then into the seventies they said Charcot Marie Tooth.

And before yourself were there other members of the family who had the condition?

Not that we knew. I mean in the 40s, 50s, 60s, I didnít realise that it was an inherited condition that it is, but when I look back I realise my father had something because he had the sort of floppy gait that a person with CMT has. I canít really remember his hands. He died in 1961 and not knowing what I had then I didnít pay much attention. He was an only child and in doing the family history for both his parents we canít find any CMT in either of them so we donít know where itís come from except that we think that my grandparents might not have been married, he was a sailor away at sea and you donít know what happened in the late 1800s early 1900s so we donít know where it came from.

And how has it changed your life?

I think it probably hasnít changed my life a great deal because I have had something since birth. So I have grown up with a disability - which eventually - I was told it was progressive, but the progression has been fairly slow up until the 1960s when I had to have a lot of surgery particularly on my feet and ankles. I realise looking back I was bullied at school but in those days they didnít really talk about bullying as they do today. I was no good at gym, games, and I suppose at school it did make me feel a bit isolated and so my friends tended to be the non-sporty type.

In the sixties I was told in 1966 I was told I must never have children. That was the actual words given to me by a neurologist. And so therefore I became, I suppose in some ways, anti-men and I became very much a career woman. And it wasnít until the middle seventies when I met Alan, we then got married in the early eighties, so I was late going into the marriage field. Had I not been told that in the sixties, then my life might have been different. I worked right up until 1981 when I gave up work and moved down here. I have been very heavily involved in the voluntary sector so I have never really let the condition stand in my way. I have tried to keep as active as I could, as physically as I could, but also within what other work field there was either voluntary or paid.

So that neurologistís comments impacted on your life quite considerably?

Yes. And unfortunately that was in the 50s/60s. That was something that happened quite a lot. Nowadays, no. You are given the informed, information and you can make your own decisions as to what happens. But it just completely floored me. And also I come from a family, my motherís side Ö where illness and disability are unspoken words and I didnít have the support from my mother that I would have liked to have had [with] my father being dead. When I was told that, I didnít have the support that I would have liked to have had so I suppose Ö I felt very isolated being told something like that. I only had friends and work colleagues to turn to for support.

What about other family members, community members?

I have got a younger sister 6Ĺ years younger. She has got CMT. Sheís got a daughter and a son. The daughter is 36/37. The son is about 35. My niece is totally clear and all the tests she has had have shown that. My nephew has got it. He has inherited the condition. My sister wonít talk about it. She has actually said to me ĎYou donít want to go to groups and mix with people like thatí. So I have not been able to try and help her. And she thinks because I am the most severe of the three of us, sheís not as bad as me and heís not as bad as her, that he got married last year and if they have any children, their children are going to be even less affected. But thatís not the case. But I canít talk to her about it obviously, so she copes in her way and I cope in mine.

What has been your experience been of the different health care professionals in the NHS from the nurses to the doctors to other people involved.

Iím a wonderful guinea pig and I donít mind this! If I go to see a new consultant, many of them havenít heard about CMT and they always bring in the students and I donít mind that. When I was working I was very fortunate because I had a lot of orthopaedic surgery. I worked on an orthopaedic unit as a medical social worker so I got tremendous care because I was also operated on in the hospital I was working in.

When I came down here, I found it all a bit distressing in some ways, because I suppose I had been spoilt and I was having to start at the bottom. And I found that when I was first referred to the neurology department that if I wasnít seen within a year and needed to go back you were put to the bottom of the pile. And I had to fight very hard to get onto an either six-monthly or annual assessment appointment which I now have. Because we believe that it is very important that somebody does monitor your condition because they canít put everything down to CMT.

I have just been in hospital for a spinal op and have to say that nothing to do with the CMT. But I must say that the nursing and medical care were very good indeed, and the physio. So it is very piecemeal. Some of the medical profession know about it, some donít. Physiotherapy wise they tend to know a little and the OTs (occupational therapist) they tend to know a little about it. But they often find, Iím collectively talking about people with CMT, we find we are educating the professionals.

What about particularly the nursing profession? Whatís their experience towards you?

The nursing care is very good but they donít know very much about the condition.

They donít know much about the genetic condition?

No, no. If you are in a genetic neurological unit they will know more about it. But if you are in a general unit... either surgery or medical, then they know little or nothing about it.

So the nursing staff on a genetics ward or a neurological ward have more information do you think?

They should have. Iíve never been in one actually because all my appointments have been as outpatients, but I would anticipate that they would know more or they should know more. But certainly in a general ward - no.

Have you had any negative experiences of staff particularly the nursing staff?

Not the nursing staff they are always very interested to ask questions. As I say, sometimes you feel a bit like a curio or guinea pig and I donít mind how much I tell people and I will often take in leaflets so the nursing staff are always very keen to learn about something new. Thatís from my experience in whichever type of unit Iíve been in.

If there was one question or one point you would like to make to improve the care that you and your family have received, what would it be? If there was one lesson that we could take away from your experience?

I would like to see more education in nursing schools about different conditions like this. And perhaps more emphasis placed on genetics, because I often feel that perhaps genetics is near the bottom of the level of the learning curve. And I think that is what I would like to see improved on so that there is a much more, many more people knowing about not just CMT but all these inherited neurological genetic conditions.

And how would you describe the journey that you have had to undertake so far?

You mean through my life?

Yes, through your life and with the knowledge of the CMT.

At times itís been quite frustrating because people donít always understand. And Iím not just talking about professionals, but friends, family and you can often feel very much on your own. Iím not bitter about what has happened and I used to find when I was working, because I was on a spinal injuries unit, people who... children who are injured at a very young age adapted far more quickly than a person who became paralysed at a later age. And I think because I have had something wrong with me from birth, I have managed to adapt as time has gone on and therefore it probably hasnít had as great an impact on me as it would have done on somebody diagnosed and started with the condition in my twenties or thirties.

Have you had any type of support to deal with the psychological and social implications?

No but that was when I was going through the fifties when I was being diagnosed, the sixties. That support wasnít there and as I suppose, got older, I havenít needed the same type of support. I have to say that one of the big advantages now are the support groups. I was instrumental in helping to set up the CMT UK support group and I think all support groups have a great deal to offer people with conditions. I mean, many of the medical profession and the nursing profession will turn round and say: ĎYou know far more about the condition than we doí. And I think Ďyes thatís trueí and when you are in a support group and meeting with people who have got the same condition as yourself then you help each other. It is a self-help group.

When you found out about the condition was there a lot of information available to you?

No because out of the muscular dystrophy type conditions everything was focussed on the Duchenne dystrophy because of course that is fatal in the young boys and something like CMT, although it was discovered in 1886 had been very much pushed to the back and it was only in the 50s/60s that this was starting to come to the fore and there was a little bit of research being undertaken throughout the country but we have always found it very difficult to find out just what the research was. Researchers tend to keep everything close to their chest and they donít spread their knowledge about.

And how do you manage it on a day-to-day basis? Are you on any medication or anything like that?

Well yes because Iíve got osteoporosis and a heart condition as well which are not connected. Well the osteoporosis can go with CMT so yes I take quite a lot of drugs for both the osteoporosis and the heart. And I do take painkillers every day just really to keep me going. Iím in a wheelchair now but I walk as much as I can, albeit quite slowly. I do use a stick. Iíve also got elbow crutches and Iíve also got a zimmer but thatís because of the operation Iíve just had. I canít manage stairs. I can only really walk on the flat and I canít walk any great distance, thatís why I do tend to use the wheelchair quite a bit.

Do you have any input from the physio?

Only if I need it but I donít have regular input. Iím having it now and sheís coming to the house to give me exercises but any time I have needed anything, like two or three years ago I had a bad shoulder which was purely and simply because I used my hands the side where I use my stick and there was a lot of pressure in my shoulder. And I went to a local hospital where I was also offered acupuncture on the NHS which I didnít know you could have. So I only have physio when I need it.

Is there anything else you would like to make a point of to help us?

The other group of people who are a great help to us are the occupational therapists and living in that health authority, they have a very good service. And I have had quite a number of aids in the house from them and also I found great benefit from chiropodists.

I think that one of the important things is information and education has got to... Itís a continual process with all the professionals and I go regularly up to the hospital for the final exams and the post graduate students. And I think this is an important part because there needs to be far more education about not just about CMT but about all genetic neurological conditions. Obviously they canít know about all of them but we can help them spread the word.

In memory of Eleanor, who sadly passed away in January 2011. Eleanor's husband has very kindly given permission for her story to remain on the Telling Stories website and he recalls how Eleanor was always very willing to be involved in educating others about Charcot Marie Tooth. He would like to point out that her passing was not connected to Charcot Marie Tooth.