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Points for Reflection

One of the striking features of this story is Penny’s positive attitude to her condition and its ‘place’ in the family. What factors do you think have contributed to this? Which factor do you think has played or plays the biggest role?

Activites

1. Draw Penny’s family tree, starting with her great grandparents and finishing with her two grandchildren. This is quite a challenge as it runs over 6 generations - but have a go!

- For help on drawing a family tree, refer to Gaff (2005)Nursing Standard 20(1):49-53.

- Use a solid black symbol to indicate family members affected by CMT. Use a diamond symbol to indicate children where the sex is unknown from the history given. For the purposes of this exercise, assume that the two unaffected siblings in her grandfather’s generation did not have children.

- What further questions would you ask Penny to clarify her family history?

An example of Penny’s family tree and suggested further questions can be found here.

2. Imagine you are the primary care nurse with responsibility for the ongoing care and support of Penny and her family. List the number of professionals with whom you might have contact, and briefly indicate their roles in this. Would you know how to contact all of these people in your area?

3. What special consideration do you think should be given to grandparents? Make a list and then visit Contact A Family’s page for grandparents and read the issues they highlight and address. [Also available to print as a PDF]

Quotes

"My Dad although barely affected felt very guilty about passing it on and even worse when my daughter was diagnosed. I do not feel the same."

"It has never changed my life, when you have CMT that young, it becomes a way of life, and you learn to adapt."

Further information

CMT UK website: http://www.cmt.org.uk/

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

Contact A Family’s page for grandparents [Also available to print as a PDF]

Information on public services. For information on ‘Disabled Facilities Grant’ click http://www.motability.co.uk/


Location: The Stories
Transcript

You can download the full transcript here

Making a good thing out of it as we can: Penny's story
A grandmother’s story of living with Charcot-Marie-Tooth, an autosomal dominant condition

As far as I have been told, my great grandmother possibly brought this condition into the family when she married my great grandfather, probably in the late 1800s. They had six children, and I’m afraid this is a bit sketchy, but my grandfather was definitely affected, and so was his brother. My grandfather lived in the Midlands and he had my father, who married and had one daughter affected, myself. He was barely affected.

He had a twin sister who was also barely affected till later life.

My grandfather’s brother Alexander was badly affected, married with one son, unaffected. Bill was also badly affected, married with four sons, all unaffected. Three married and their subsequent family are unaffected. Grandfather’s sister Charlotte was the worst affected, married with three sons all unaffected, as are their children.

I was born in 1939 and I think that the most interesting part was that my family already knew the name Charcot Marie Tooth even as far as my grandfather. They called it called it Peripheral Atrophy which I suppose was not totally correct! I reckon the information however sketchy must have gone back into the early 1900’s, not long after it was discovered. I am trying to find out from my very elderly relatives if they have any names of someone who told them that. I don’t hold much hope, as one is 93 and one is 97!

My Dad although barely affected felt very guilty about passing it on and even worse when my daughter was diagnosed. I do not feel the same.

All my parents knew was that it was hereditary in some way.

I started to show signs at two years old. We lived in the Midlands. I am told that they took me from place to place and were told all sorts of things, I can remember one man saying I had no feeling in my feet, and running an open safety pin along my feet, the result ? I roared with rage, and can still remember it! He was somewhat shocked!

Finally at around four years old, they found a wonderful man, who said he could help. They nearly fainted! He worked at a big City Hospital, around about 1944.

I went first into hospital at seven years old, and had corrective surgery fairly often till I was seventeen, when I had a sort of triple arthrodesis, tendon transfers, you name it! I was in hospital for three months, and in plaster a further nine months.

It has been a very successful operation; (both feet) I have needed no more surgery-CMT wise. I have however had both my hips replaced, and both shoulders too! All successful.

It has never changed my life, when you have CMT that young, it becomes a way of life, and you learn to adapt. Having said that, I never needed any more help till my fifties, when things suddenly got worse. That was when I had the good luck to meet the best occupational therapist ever! She, through many years of support, got me an electronic raising recliner chair, a downstairs toilet, (DFG) a stair lift, toilet raiser seats, and finally a few years ago, with a DFG to enable me to have the bath taken out, and a shower room installed.

Sadly, she has left the area, but I am sure I will receive the same level of help if needed.

My GPs are great too.

I think the level of care I have had is great, and that goes for my daughter (now married) we both have Motability cars.

To continue I have a daughter also affected, and my granddaughter - they both have had the blood test, which has proved unpopular to have. And both have the CMT gene type 1a.

My granddaughter is aged 11 is affected and wears DAFO’s and is having great support from both her old school and the new one which she will attend in September. My grandson is 7 and shows no sign of CMT at all, if anything he is a bull in a china shop, real little boy! In spite of opposition at his birth, he also had the blood test and was proved to be positive. Since he shows no signs of the condition, it goes to show that the test is not written in stone. It’s a wait and see thing.

I have always been totally upfront in dealing with this, and told my daughter at an early age; she was around 11 when she showed signs, whereas my granddaughter was two. She too is very positive, and we try to make as good a thing out of it as we can, the way to go for this family!