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Points for Reflection

In her story, Kath says "I think it would be helpful if they took the partners aside sometimes and sort of said look heís going to have very black days and you are going to have to cope with the very black days and because you are the nearest and dearest they take it out on you." Who do you think Ďtheyí should be in relation to this role?

Activities

1. Reflect on Ďthe potential physical and psychosocial consequences of genetic information for individuals, family members and communitiesí (NCG 5).

2. How might unaffected individuals react to those with, or at risk of a genetic condition?

3. Consider the similarities and differences in the way family members, friends and the wider community, might behave, think or feel.

Quotes

"I think the children try and understand but it must be very difficult for them to try and understand a disease they know very little of and hope they are never going to get."

"I also watch the grandchildren like hawks and God forbid, they donít get it. Itís always in the back of your mind. Itís always in the pit of your stomach if ever theyíve got a problem, is it Grandadís disease you know."

"Be patient. Itís hard but you have to be patient and you have to have the black days but laugh about it as well. Youíve got to laugh about it because thatís the way we cope."

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: Kathís story
A husband and wife perspective on living with Charcot-Marie-Tooth, an autosomal dominant condition in this case.

Welcome to the interview. If you would just like to start off maybe if you could just tell us a little bit about the condition in your family and how you found out about.

Have I got to retrace Phillipís story?

Just from your own perspective.

Well Phillip was having strange sensations as he used to say it in his legs and I think my earliest memory of him was him hitting his legs and trying to get life back into his legs. And it was getting more and more common and he went to the GP and as he said he was referred to [another] hospital and they diagnosed the CMT and I think it was a relief for him really to sort of know that there was a problem because it was just like a deadness that was driving him around the bend all the time. So that was 20 years ago.

And how did impact you?

Sorry?

How did it impact you?

It was relief actually that we had a name for what was wrong with him and I think he felt better that there was something, there was a problem. Not just, he thought it was in his mind. So we also took the children up at the same time and they did tests on the children and at that time they said they didnít think there was anything wrong with them which was a relief for us. That was sort of ongoing.

How has it changed your life?

It hasnít really changed our life in as much that we have a very good life and I think I am a very positive person and I wonít let Phillip be an invalid. So we tend to still do things within reason and I think keeping a positive mind is the best thing to be able to cope with the disease. There may be times where I go behind the scenes and go Ďboohooí but I donít let him see that and we get on with our day-to-day life.

And what has the experience been of the care that you have received from the NHS along the way?

Well as Phillip has said, thereís not a lot they can do. What care he had he has been quite satisfied with but they canít take the pain away, and we have found from trial and error that it is only paracetamol that will do that. So at least if itís very bad he can take that and it will take the edge off it. I donít think it takes it away completely but it does take the edge off it and let him live a little bit more normally. But he can only take so many of those a day so he tends to take them just before he goes to bed to try and give him a restful night and if he has a restful night he has a better day.

What lessons do you think could be learnt from your experience, for others and also healthcare professionals.

I think it would be helpful if they took the partners aside sometimes and sort of said look heís going to have very black days and you are going to have to cope with the very black days and because you are the nearest and dearest they take it out on you. They take it out on you. And you have to turn the other cheek and 99% of the time you can do that but there is that 1% where you have to turn around and say "mmm off" under my breath of course because Iím a lady. You know I think they need to know as you said earlier on about the psychological side of this can be quite bad.

What about in relation to your children and your family? Whatís your experience been there?

I think the children try and understand but it must be very difficult for them to try and understand a disease they know very little of and hope they are never going to get. I look at the grandchildren, I mean my own children were quite grown up before Phillip realised he had it. I watched them like hawks and I also watch the grandchildren like hawks and God forbid, they donít get it. Itís always in the back of your mind. Itís always in the pit of your stomach if ever theyíve got a problem, is it Grandadís disease you know. So please God they donít get it.

And what would you as a carer or as a family member want for yourself to help you?

I think Iím a pretty strong woman and I suppose I can take most things but there are days where it would be nice for somebody to say "How are you?" Because you do live in the shadow of this disease all the time but very rarely you do have a little day where you think "Oh dear" you know, but not often. Not often.

Is there anything else you would like to share with us in terms of your experience and the journey youíve undertaken with your husband?

I think it can be quite funny. I mean we have laughed about it. I mean the first AFOs that Phillip had were bright pink. He looked like a stork and he was quite an eminent businessman and he couldnít go around with legs like a stork. So he had to go out in the garage and spray them black and things like this. And he never had to wear brown socks because he had to have them matching his black socks. And it has made us laugh as well as itís made us cry and I think this is the best attitude to take about it you know. Thatís how weíve coped with it anyway, you know. Itís other peopleís - I can remember being in [town] one day and Phillip had gone to a cash machine to get some cash out and he walks very, very peculiarly because his hips sway. But there were some young girls walking behind him copying him and they thought it was great fun. Now Phillip didnít know that I was sort of crying in the car and I thought people just donít understand that he isnít mincing along the road, he has got a problem, and itís things like that that you hide from them, you know? Yes, yes. I think people, youíll never stop peopleís mocking of the disabled.

So is that something you have to deal with a lot?

Not so bad because I suppose now Phillipís retired, our circle is smaller and our friends are very, very caring. I mean if I go somewhere and Iím not there I have friends who will be almost as caring to him as I am, so that is lovely. We are blessed I suppose because we have good friends. So that helps.

Is there anything else that you feel you would like to talk about and make a point of that would help those who are going to be watching this film?

Be patient. Itís hard but you have to be patient and you have to have the black days but laugh about it as well. Youíve got to laugh about it because thatís the way we cope.