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Points for Reflection

Phillip says of his sister "She was in denial over a period of years that there was a problem but now she is coming to terms that she has a problem". How might this situation impact on family dynamics?

Activities

1. Not all cases of CMT are inherited in the same way. Use the link to the website to find out about other forms of inheritance pattern that could occur with this condition. Are they managed in a similar way?

2. Look at Competence 5 and consider what the Ďutility and limitations are of genetic testing and informationí are for the children and grandchildren of someone with a genetic condition. Discuss with your learning group at what age you think children in such families should be offered testing.

3. Is it a good thing to know that you have the gene change for a condition that will affect you later on in life? How do you think someone might react to the information, particularly if there is no way of determining when the symptoms might begin or how affected the individual might be?

4. What follow-up care plan would you devise for a patient in your care who has just been issues with ankle-foot orthoses for the first time?

Quotes

"Because we used to live a damn good life so itís an imposition. Itís annoying. Itís frustrating, very frustrating."

"They are seeing so many thousand patients and yet probably once every four or five years someone walks in with this condition."

"So I think what you are doing here could be really beneficial to the medical profession in helping them to understand the day-to-day problems that people have with it."

"It wasnít until I began to look at them [AFOs: ankle foot orthoses] that I started to investigate it myself through my GP and I said look Iím not happy with these things and then he and I began investigating how I could get more and better ones"

Further information

CMT UKwebsite

Further information from CMT UK on managing CMT using orthotics

Carers Direct Information, advice and support for carers

National Genetics Education and Development Centre Ė CMT

NHS Evidence: genetic conditions briefings - CMT

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


Location: The Stories
Transcript

You can download the full transcript here

Living with a late onset, progressive condition: Phillipís story
One of two stories offering a husbandís and wifeís perspective on living with Charcot-Marie-Tooth, inherited as an autosomal dominant condition in this case.

Well Iíd just like to welcome you to the interview and if you could just start off by telling me about the condition that you have and how you found out about it.

Right. Well Iím 64 now and I found I had the condition in my early forties. I knew there was a problem within the family prior to that because my grandmother who lived [away] who I saw probably three or four times, she was confined to a bed because she had lost a leg from the knee down with gangrene. I am going back now 55 years or so ago and then subsequently one of her sons, one of my uncles, he had a similar problem. So I knew there was a problem but it was just a problem no one knew anything about. My mother had a problem and thatís who I inherited it from and she seemed to have, I think she called it her rheumatism. She died not knowing that she had a problem. Anyway I discovered I was getting a problem in my early forties because I began getting tingling in my feet and subsequently a year or so later it was progressing within the feet and numbness and so on. And then I noticed one day after I had washed the car in maybe springtime that my hands were just numb completely out of coldness and also very, very sore, very painful, very painful. I then began getting shooting pains literally from the feet up, mainly in the feet and also in the hands just slightly, but only very slightly in the hands. It was more to do with the feet. And over about three or four years I just didnít know what it was and it wasnít a major problem and at that time living in the village where we live our GP who was about to retire, I went to see him and he said well, maybe I should send you to the hospital in London to the Doctor who was running a ward for want of a better description for people with Parkinsonís disease and MS and so on in there, and I went up with my wife and I think I stayed two or three, four days. And they did specific tests on me and he was slightly mystified and Iím going back now to probably when I was about 45/46 so it is getting on for 19 years ago now. The Doctor said at that time that heíd only come across the problem once before ironically with a family in South Wales I believe he said, because my family came from [England] and anyway he sent me back home and I felt a complete and utter fraud when I was there because there were people who had more severe problems obviously with Parkinsonís and so on and I just felt a complete fraud.

Came back home and put up with the problem and it got progressively worse over a number of years. My current GP at that particular time had retired and I saw the new GP and he sent me back to the hospital in 1995 I think it was. Then I saw a doctor in the Nerve Hospital Iíd been to before and he did some blood tests and said to me Ďyouíve got Charcot Marie Tooth Type 2í and gave me information about the Charcot Marie Tooth society within the UK and I got involved with them and as a result I have built a file up over a period of years because we have two children, a son and a daughter. The daughterís 40, the son is what, 35, and between them weíve got 4 grandsons ranging from 12 down to 2Ĺ - 3. At the moment, touch wood, none of them show any signs of the problem. I do have a sister that is 3Ĺ years younger than me. She lives [in America], been living there for 25, 30 years. She was in denial over a period of years that there was a problem but now she is coming to terms that she has a problem and I donít think she has been diagnosed because she has not been able to see a specialist the way that I have but she has been able to go out and buy special shoes, well she has had to buy special shoes whereas here in the UK with the benefit of the NHS I wear ankle-foot orthosis, AFOs and I get those made locally by a company who work for the NHS and I just pop to my local hospital and get them made.

I do see a neurologist once a year, usually in November. I also help, because twice a year I go to my local hospital, sit on a bed and then get diagnosed by students who are going through exams that particular day. So I do help in that way. Iím also a member of the CMT organisation and I get quarterly brochures from them and they give me information about progressions that are happening or in the case of CMT virtually not happening because there is I think, 1 in 2,500 people have the disease and as a result it isnít to the highlight of the medical professions trying to find a cure for it and I donít think there is or potentially at the moment, there isnít a cure.

So what do I do about it? I wear leg splints, because my balance has gone, because it is a muscle wasting problem. One of the first things you would see is the muscle between the finger and the thumb here is non existent as you can see and that is one of the problems so grip is a problem. I use button hooks. I have problems with cups. Cups are a major problem for me because I burn my fingers so I have to be very careful if I am drinking something thatís quite hot to maybe just be ultra careful about it. Luckily I have a wife who helps me in that area and we use special mugs at home basically. I also use a special knife and fork occasionally I find if I do a lot of work with my hands, if Iím driving quite a lot or handling something for quite a long time, then the hands do become a problem. They get numb and I get more pain in the legs and the pain is one of the major problems with it. Itís spasmodic but itís becoming more and more frequent at this particular moment in time. Itís a progressive disease. So I find there are times when you can go 2 or 3 days and itís almost non-existent apart from the fact youíve got a balance problem because the muscles are wasted away. The pain is one that is becoming more and more progressive and slightly more of a worry and more of a concern because I just wonder what is going to happen in the future.

I had a cousin living in Reading. My motherís maiden name was Eighteen. Very strange but it is the number, and [one relative] was confined to a wheelchair at the last stages of his life with this problem and in fact the neuropathy trust that I sent you literature on has, I donít know what you would call it, like a charity thing within itself called the Eighteen Trust. He was not very well at the end of his life and Iím not quite sure how old he was when he died.

People take a look at me and I have had major heart surgery and say Ďyou look wellí and I do and itís a challenge because I have to use a stick if I am stood up and Iím standing. Walking is no problem because your balance doesnít really come into it. It does but not such a major problem as when you are stood still so I either use my wifeís shoulder to lean on if we are stood still and I donít have my stick or if I am walking around I use a stick. Or if we are shopping the shopping trolley is handy.

I take, what do I take to get rid of the pain? Well Iíve seen a pain specialist in the last 12 months through the NHS and thatís not being critical because I took about 2 or 3 months to get to see her, which was no problem but unfortunately without being hyper critical she wasnít the best of listeners, and I donít think in all honesty that, well she actually gave me an injection in the leg to try and get rid of the problem. It didnít. She gave me creams to put on it. That doesnít really help and I find the only way I can alleviate any pain at this particular moment is to take paracetamol and maybe something slightly stronger, but I have to be very careful obviously because of upsetting the stomach and so on.

How else has it changed your life? I mean you have already mentioned a couple of amendments that you have to now make but how else?

Well mechanically I drive a car with the accelerator and the brake slightly modified to suit my feet. It has to be an automatic and it has to have a fairly large area in the well for your feet to move around. I have retired from work but that was more to do with the stresses and problems of running a business which I was doing at that time and the doctor in London said to me one of the worst things you can have for this is stress and at that time I was running a business with an American organisation so we made a decision on the way back that I would basically get rid of the business and I did that which was a slight challenge because both our children at that time were working in the business.

So I retired, however, I still play golf. I played golf two days ago but I only managed 9 holes and I have to go around in the buggy. But for 24 hours afterwards I had a job putting my feet on the floor because the pains are basically in the soles of the foot and they do progress up the leg, you do literally have pains the minute you put socks on and put your feet on the floor and they are shooting pains that make the leg jump and then they go. They might not come back for another 3 or 4 minutes or 20 minutes or 20 hours but then they come back and without any indication whatsoever all of a sudden you get incredible shooting pains through your legs to the extent that you wince and then itís gone. Itís very strange.

Iím lucky that my wife puts up with it because it is a problem that is with you daily. At the moment it seems to be getting worse which is a slight concern. I donít know how I am going to put up with it. One has to see. I am due to see a neurologist again in November this year and see what he has to say but invariably there isnít any real coming forward. Have to say we are looking at this or we are looking at that and maybe further down the road there will be solutions to the problem. I live at the moment on the basis that if I can help people like Iím helping hopefully now with yourself, and with the CMT organisation, maybe if in the future progression has happened it will alleviate problems with our children and our grandkids.

Because we used to live a damn good life so itís an imposition. Itís annoying. Itís frustrating, very frustrating. There are things you canít do that for years you have just taken for granted. Without getting down to very basic things everyday problems of keeping oneself clean after using the toilet and so on are a challenge. I have overcome that with certain things that are helpful proprietary things that are for sale. And I just inspect my feet every day. I find that if I bath thatís much better than showering because then it helps the circulation get a bit better. When I played golf the other day, I found my back and my hips were quite stiff even though I just played for two hours. I normally play for four hours and I have played for four hours within the last month. It can affect me for 24 hours afterwards, but I think youíve got to fight it to a certain extent as much as you can anyway and not let it be too overpowering. But it is one of those things that you say well itís there and you have to live with it you know.

And what is it like living with it? Whatís it like psychologically?

Well thatís something Kath and I discussed quite recently because I think thatís something that maybe more help could be forthcoming. At the moment though the neurologist that I deal with is dealing with 300,000 people in the area and he openly admits he shouldnít be seeing more than 100,000. So maybe thereís lack of facilities and help. You can go to any GP and most GPs have never heard of the problem and although a lot more people in the medical profession now are becoming aware of it. And I just think trying to adopt a positive attitude to it is the thing and saying well itís there and one has to put up with it. I think one of the major annoyances that I have, frustrations, is the fact that nothing appears to be happening and you can speak to people about it and give them information - Iím talking about GPs and so on - and the next time you go to see them they are no further down the road, even though you have given them information on it. But I can understand their situation. They are seeing so many thousand patients and yet probably once every four or five years someone walks in with this condition. So I think what you are doing here could be really beneficial to the medical profession in helping them to understand the day-to-day problems that people have with it. And I think the frustration, the psychological problem that you mentioned is something that maybe could be investigated slightly more as to what could be brought forward or what could be helpful. You came to the recent CMT meeting.

You came to the recent CMT meeting and in all honesty with all due respect to the people who ran it, what was actually said there I have been to meetings 4 or 5 years ago and heard more or less the same words so I think one of the comments I made after that meeting was that maybe it should be more for patient care and after care rather than telling you about the disease. We know about the disease and in all honesty, people like me who have the disease canít do anything about it and I think that maybe what they should be doing is, if you try and understand it, as you are not in the medical profession you canít do anything about it. If they said to you OK there is a problem with the nerves, as there is, and maybe you should be taking this drug or taking that drug, then thatís help. But just by telling you what the problem is, once you have learnt that or you can read about it fine. Then maybe we should be looking at progressions as to what we can do about it.

Do you mean as to helping people to live their life post diagnosis and dealing with it on that day-to-day basis?

Yes. A problem shared is a problem halved isnít it, and the number of people who come to CMT meetings and do get benefit out of it to be honest with you, so Iím not trying to be critical of the CMT meetings far from it, because there is an annual one and we tend to go to most of them but I would like to see more information as to what is happening for the future rather than just telling you about the disease because thatís going over old ground you know. But there again if things arenít happening, if progressions arenít happening, if there arenít cures coming for the disease well they canít tell you about them because they arenít happening. Perhaps what they could be talking about it is maybe how to relax better. The sort of holidays you can go on perhaps.

All that sort of psychological social . . .?

Yes and there are moves afoot at the moment to get a [regional] group meeting. There are group meetings of CMT people throughout the UK. There are about 12 or 13 of them and usually someone that has CMT gets together on a quarterly basis with other members within that county or that geographical territory. They discuss the problems or in some cases they take a trip up the river on a boat and just have a meal together but maybe if they are sharing the problem Ďoh I wear these shoesí ĎOh do you?í You get them from so and soí. That sort of thing would be helpful. One thing I learned quite recently at the CMT meeting we held locally. Someone from the next city has no idea, I was talking to a lady there, has no idea how to get AFOs. No idea whatsoever. She wasnít aware and neither is her GP that thereís a place locally that makes them. It might be that somewhere near her, there is something. And again thereís lack of an overall person if you want, a reference point to go to and thatís why I think this would be really beneficial.

The first pair I got of these for argumentís sake, I was called back up to [London] for another visit and we saw a young Irish lady who was a physiotherapist if I remember rightly and she called someone in that week and he actually came all the way down from Newcastle to London, took a plaster cast of my legs, went back, made the plastic AFOs ankle foot orthoses and then sent them down to me in the mail to where I live and said basically wear them and so on. There wasnít any after investigation as to whether they fitted and I had no education as to how long to wear them, when to wear them and so on and so on and so on. It wasnít until I began to look at them that I started to investigate it myself through my GP and I said look Iím not happy with these things and then he and I began investigating how I could get more and better ones because they do wear and also they tend to, around this area, they tend to get rather worn and wobbly. So I investigated that and through CMT and I was told ĎOh yes. Go to Daceyís in my home city. They make them.Ē So I rang my GP and in fact I went to Daceyís myself and began getting the ball rolling. So I think my attitude has always been youíve got to make things happen. If you sit back and wait for things to happen, invariably it doesnít. So youíve got to make it happen and thatís what I try to do.

Just to go back to your experience of the care of the NHS. Could you maybe focus on some of the more positive aspects and some of the negative aspects a little bit more for me?

Letís get the negative ones out of the way very quickly. Very few people have knowledge of the problem and I can understand that because very few people have the problem but I think as CMT is progressing and things like what you are doing here that will help, thatís if you want the only negative I can think of. Apart from maybe trying to understand the pain but I mean how can I understand your pain, because youíve got your pain and if you were to say to me you had a pain in your hand I wouldnít know what it was. So that is difficult. The positive things are for a start I can get things like this sorted whereas my sister in America canít. And all I have to do is pick the phone up and say look Iíve got a problem with these and they call me in to the hospital and I get plaster casts taken and so on and then they call me back in and say how are they behaving themselves and so on. So there is aftercare in that respect. I also see the neurologist. I also see or can see the orthopaedic surgeon. He is a contact, he is aware of CMT and orthopaedic surgeons are obviously people I mean some people initially, one person we met who has this problem lives [in a local town] went to the extent of having both his legs amputated from the knees down because of the pain he was in and he obviously has to have prostheses made to overcome the problem so.

Do you have any nursing support?

No I have had physiotherapy and they sent me to a special physiotherapist who deals with people with nerve problems. This was in the hospital not too far away from my home and I saw her for, I think about 8 or 9 different hourly or half hourly sessions and she gave me exercises to do. Now exercises when you donít have muscles are not very easy to do because you canít unfortunately and if the muscles are totally wasted away as in my case they are in lots of areas itís a problem so I donít have any ongoing nursing care.

If there were some points that you would like to make to improve care for you and your family, what would those be?

I think maybe the first one I would suggest is that maybe help towards the relatives. In other words help for, in my case, my wife because she has to live with me and when you get frustrated with a problem, if you do something for 55 years without thinking about it and all of a sudden youíve got to think about what you are doing like getting hold of a cup or reaching into a cupboard to get something and you knock something onto the floor then it gets frustrating for me. It also gets frustrating for your partner so I think maybe help for both parties in that area. I donít know what can be done about the pain because I think the pain is the biggest problem because that affects your sleep and therefore affects your partnerís sleep and that affects the rest of your day. It can affect your temper and Iíve never been a patient person in my life. So frustration I think as I said. Does that . . .?

Yes that clarifies at lot. You talked about a need to facilitate a positive attitude and I wondered if you could maybe just focus on what has helped you to focus on the positives? What helped you in your journey?

My philosophy on life is that out of all bad comes some good and if what Iíve got now can be used so that in some ways that my grandchildren and my children, if they have the problem, they know basically how to cope with it a lot better than I did. For argumentís sake, I have always had thin legs. Iíve never been a person with a lot of weight on me. Now if I had known, maybe 25, 30 years ago that my muscles were going to waste away in the legs, maybe if I had exercised. Now I know this was a slight disagreement with someone but everybody Iíve seen who has CMT or I have spoken to agrees with me on this. Maybe if Iíd have exercised and built the muscles up then maybe they wouldnít be so thin as they are now because they would have worked from a larger base if you see what I mean. Also being able to cope with the problem knowing straight away what the problem was you could say hang on I think Iím going to have to start doing this a bit quicker or maybe pre-planning things so that fore-armed is fore-warned. Is that the right description?

And I think rather than be negative about the information Iíve gleaned over a period of years Iíd like to think that if it does come into my kids, and hopefully it doesnít get into the children, then at least they will be able to come to me and say look, Iím getting a problem what do I do about this. So then straight away we see the neurologist, we have blood tests and so on so that straight away they know what help they can get because if you look at CMT one of the major challenges of the problem, although Type 2 that I have is not so critical as Type 1. With type 1 you get it when you are fairly young. With Type 2 it tends to be at a later stage but there are some people who are in a wheelchair at the age of 5 and there are some people at the age of 80 who just have a hand problem. So itís not necessarily that my grandchildren or my children will have similar problems to the ones that I have. It could be worse. Hopefully they will be a lot better or hopefully they wonít get it at all because it might skip a generation or they might not even get it so thatís what I would like to think that maybe the fact that Iíve got it, I canít change that, but Iíve learnt from it and hopefully I can teach anybody basically. I think when you run a business as I did you have to impart information to other people otherwise they will go and do their own thing so you want them to do what you want to be done if you think thatís the right way to run it. So I have always been used to passing information along. Some people say itís a problem or whatever. I just think of it as positive. Iíve never been known to not talk about something if itís there to be talked about or whatever. I canít think of anything else on the positive side. Does that answer your question? Yes?

Yes thank you very much for that.