DM

Jacqueline Donachie2002

One

All my life I’ve been told how much I look like my sister.

Are you twins? Which is which, I never can tell?

We never saw it. I was younger and for most of the time rounder (I burst her leather skirt in 1986 and she never let me forget it…). And she’s a few centimetres shorter than me, which for tall girls in the inherently stocky West of Scotland is a big deal. When we were both expecting babies at the same time – her second, my first – our bellies swelled to exactly the same shape. She was three months further on than me though, so for a while at least I was smaller.Then my sister had her baby.

Then my sister had her baby.

But it was not to be.

The baby wasn’t so well.

Born very prematurely. It was all a bit of a panic. After our intial fears for this tiny thing (3lbs 2ozs, I was there to see her come out) that were inevitable due to her arriving almost 8 weks early, more fears were raised.

After samples and tests and lots of questions, it turned out that the baby had something that she had inherited from my sister as well as her hazel eyes. In time we found out that my sister had inherited this thing from my dad – who was also the one with the hazel eyes, incidentally. Until this point none of them had been aware of having anything. The scare at the time was aggravated by the fact that I was also expecting a baby, and, because my sister had unknowingly inherited this thing that she then passed onto her daughter, currently very sick on a tiny ventilator in a little plastic incubator in a very large hospital, then my unborn baby and I were also at risk.

After more tests and more waiting and more kicks from an ever fattening belly I was told I didn’t have the thing that they had. It wasn’t just the hazel eyes I didn’t get from my dad (mine are plain old blue like my mum’s). And because I didn’t have it it was impossible to pass it onto my son.

So that was that.

In the months that followed my sister’s other child was diagnosed with the condition, as was my brother, and we all started to notice funny wee things like the fact that Susan could no longer walk on her tiptoes, which made for a laugh as we all tried it, up and down the kitchen floor at my parent’s house.

Round about this time my mum started to smoke again.

Since that year we’ve found out more about this thing that they all have. And it’s a funny thing.

It grows and repeats itself throughout your lifetime, and the severity of the symptoms multiply as it passes through generations. The type that my niece got from my sister is worse than the type that my sister got from my dad. The age of onset of symptoms gets steadily younger, although you can only inherit the congenital form, like my niece has, from your mother. So my dad’s symptoms are appearing now that he’s in his sixties, my sister and brother are developing problems in their thirties and my niece and nephew have problems all the way from childhood. Which means that three years ago we knew nothing, and now it’s kicking in for them all at the same time.

But it is very hard to quantify. The repeating is all at a very tiny level, in one particular chromosome, so its not really visible to anyone other than a lab technician with a sample of your DNA. Its not a big expanding thing like cancer that can be seen and sometimes treated or cut out, more a discreetly multiplying thing, tucked away inside a section of chromosome 19. The thing is that that chromosome is in every part of you that has muscles, which, when you think about it, is quite a lot.

This leads to many symptoms that are manifest in everything from your heart to your eyelids. It can make facial muscles very weak, leading to a certain ‘blankness’ of expression, often with droopy eyelids or a slightly open mouth. It can make your hands stick if you you grip things tightly- a big one in our family – and it can cause problems with balance and co-ordination. You can be very susceptible to lung infections and pneumonia as the chest muscles can be very weak, and general anaesthetics can be risky if people are not aware of the situation.

As it can have som many affects you can end up seeing a lot of different doctors who check on a lot of different things, then refer you to a lot of different places.

You meet a lot of people.

Two

It affects about 1 in 8000 people in the UK, and in Scotland there is a database of about 400 families. It is extremely under diagnosed.

Once we got used to the fact that the genes that made us tall and slim also made some of the family sick, we started to find out more about it.

I suppose that you could say that our knowledge will always be as old as my niece.

So by the time she finally came home from hospital, 10 weeks old but still so very tiny, we knew that her brother also had the gene mutation. When she started to walk – slightly later than her younger cousin, and with a bit of help from fibreglass splints – we had worked out that some of the other niggling things that affected my sister, brother and father could also be related to this thing. Not just their dodgy hands, but their dodgy balance and dodgy hearts and occaisionally dodgy bowels as well. Suddenly my family all got to park on single yellow lines whenever they wanted, and man came to the house to put a handrail on the stairs for my dad. By the time Rhona was throwing her dinner at the walls and chasing my son round the garden, we were gently mentioning to other aunties and uncles and cousins that perhaps they too should have the little blood test that could trace what was happening inside their 19th chromosome.

So if we went there, my sister and I, would we look familiar?

I began to work with some people who did a lot of research into the gene itself, and they gave me lots of scientific papers to read. One in particular stayed with me, about a place in Quebec, in Canada, that had an instance of the disease 10 times that of the national average – a strong ‘founder effect’ they said. There was also the theory that everyone who has this are descended from the same family.

Montreal and Saguenay Lac St. Jean, 28th July – 4th August 2001

Seven days, six flights. One professor, one doctor and two sisters.

Off we went.

At first it was too hot and our meetings got cancelled. I had brought these people here, away from their very varied and busy lives, to stay in a crummy Comfort Inn and walk the streets of Montreal looking for something to talk about as well as this disease that we all had in common. We sought out air conditioning. The geneticists marched us all off to the Science Museum and later that day I dragged them to the Museum of Contemporary Art. We were sceptical but respectful of how each of our worlds were portrayed, but felt better for this unplanned bonding. The cold beer was good and it made Susan and I laugh that the scientists kept asking her if she needed to have a rest.

We went on to meet families that were much better and families that were much worse than our own. The families that were worse scared the shit out of my sister and I and the families that were better made us feel good. One family had an unaffected sister who had given up her whole life to care for them all. My sister told the scientists that they had better get working on their bloody cure and I just felt sick.

As I said it’s a funny thing this disease. It can affect many different people I many different ways. We swapped a lot of photographs, drew family trees on diner placemats, and gave out a lot of highland toffee. After eating blueberries with two sociologists who study the cultural and economic effects of the condition on the families who have it, we swam in Lac St. Jean with an eminent neurologist and his genetic counsellor wife. He barbequed us lamb chops and we talked about fly fishing, dodgy hands and the big clinic he ran in the area.

We never met anyone who recognised us.

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Michèle Salvail (left), Director of ServicesMichaelle Joseph (right), Volunteer Development Assistant

Muscular Dystrophy Association of Canada in Montreal

Anne Hever, PhD StudentIBLS Division of Molecular Genetics, University of Glasgow Researchers,, Biomedical Institute, Helsinki University

Dr Kristina Aittomäki, M.D., Clinical Geneticist and GynecologistHelsinki University Central Hospital, Clinical Genetics Unit

Kathleen Donachie, Employment Liason Officer, GlasgowHusband, 2 children and 2 grandchildren affected

Teija Alanko, intern specialising in obstetrics and gynaecology,Helsinki University Central Hospital

Elaine Busby, Clerical Officer,Duncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals, Glasgow

Eileen Payne, former Shell Canada employee, Montreal, QuebecLate father and 4 siblings affected

John McAbney, Research TechnicianIBLS Division of Molecular Genetics, University of Glasgow

Dr. John Tolmey, Consultant in Medical GeneticsDuncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals, Glasgow

Susan Craig (with nephew Archie), Software Technician Department of Computing and Electrical Engineering, Herriot Watt University, Edinburgh

Diagnosed May 1999

Jack Donachie, retired local government officer, GlasgowDiagnosed October 1999

Suzanne Veillette (left), Co-ordinator of Research, Groupe ÉCOBESMichel Perron (right), Director of Groupe ÉCOBES

Cégep of Jonquière, Quebéc

Robert McNab (right), Chief Technician, IBLS Division of Molecular Genetics, University of Glasgow John from Crowthorne (left)

Dr. Darren Monckton (centre), Lister Institute Research FellowKeith Johnson (right), Professor of Genetics

IBLS Division of Molecular Genetics, University of Glasgow

Rhona Craig, born congenitally affected, May 1999Neonatal Intensive Care Unit, Simpson Memorial Maternity Pavilion, Edinburgh

Rhona with her brother Fraser Craig, diagnosed August 1999December 2001, Edinburgh

Claude Prevost (right)Genetic counsellor, Complexe Hospitalierde la Sagamie, Chicimouti, Quebec

Dr. Harriet von Koskull, Associate Professor of GeneticsHelsinki University Central Hospital, Department of Obstetrics and Gynaecology /Genetics

Dr. Riitta Salonen, Associate Professor of Medical GeneticsHelsinki University Central Hospital, Department of Obstetrics and Gynaecology/Prenatal Genetics

Dr Jean Mathieu, Medical Director, Neuromuscular Clinic, Jonquière Health Centre, Jonquière, Quebéc

Graham Hamilton, Ph.D. StudentIBLS Division of Molecular Genetics, University of Glasgow

Gurman Pall, Scottish Hospitals Endowment Research Trust (SHERT) Research FellowIBLS Division of Molecular Genetics, University of Glasgow

Conference Delegates, Third International Myotonic Dystrophy Consortium Meeting (IDMC3), Kyoto, October 2001

Dr Alison Wilcox, Scottish Muscle Network Co-ordinatorDuncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals, Glasgow

Dr Douglas E. Wilcox, Senior Lecturer and Honorary Consultant in Medical Genetics,Duncan Guthrie Institute of Medical Genetics,. Yorkhill Hospitals, Glasgow

Terry Payne , Montreal, Quebec. Diagnosed 1986Jacqueline Donachie, artist, Glasgow

Father, brother, sister, niece and nephew affected

Graham Brock, U.S. National Institute of Health (NIH) InvestigatorIBLS Division of Molecular Genetics, University of Glasgow

Archie Buchanan, GlasgowGrandfather, aunt, uncle and cousins affected

Three

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Myotonic dystrophy (DM) is the commonest form of muscular dystrophy in adults.

The symptoms are primarily muscle stiffness (myotonia) and muscle wasting (dystrophy) but individuals affected by DM can suffer from a variety of other symptoms in a range of different organs. It is an inherited genetic disorder that affects about 7000 people in the UK, although it is thought to be extremely under diagnosed.

There is currently no cure.

Further information can be found at:Muscular Dystrophy Campaign7-11 Prescott PlaceLondon SW6 4BSt. 020 7720 8055f. 020 7498 0670Helpline: 020 7720 8055e. info@muscular-dystrophy.orgwww.muscular-dystrophy.org

Myotonic Dystrophy Support Groupt. 0115 987 0080f. 0115 987 6462e. mdsg@tesco.netwww.mdsguk.org

Scottish Muscle Network(Dr Alison Wilcox, co-ordinator)Duncan Guthrie Institute of Medical GeneticsYorkhill Hospitals,Glasgow G3 8SJt. 0141 201 0365f. 0141 357 4277e. A.Wilcox@clinmed.gla.ac.ukwww.gla.ac.uk/centres/muscle/

This book is the result of an ongoing collaboration between Jacqueline Donachie and Keith Johnson, Professor of Genetics and Dr Darren Monckton, Lister Institute Research Fellow from the IBLS Division of Molecular Genetics at the University of Glasgow.

The collaboration was initially made possible by a Research Award from the SciArt Consortium, with additional support from Copus, the UK Science Communication Partnership.

Thanks to Jean Mathieu, Claude Prevost, Suzanne Veillette, Michel Perron, Katrin Perron, Camille Beaulieu and Louise Simard, Michele Salvail of the Muscular Dystrophy Association of Canada in Montreal, Terry, Eileen and Allan Payne, Amy Bednarz, Susan Craig, Roderick Buchanan, Eric Michael, Douglas and Alison Wilcox, Ritta Salonen, Bergit Arends, Annie Vaz, everyone within the Division of Molecular Genetics at the University of Glasgow and all those who allowed themselves to be photographed and/or interviewed in the course of this project.

Design and typesetting by Patrick Macklin and Jacqueline Donachie.Originally published in 2002, in an edition of 1,500 copies.Reprinted 2005 in an edition of 3,000 copies.Photographs by Jacqueline Donachie, Darren G. Monckton, Alan Dimmick and Susan Craig.

Printed by Beith Printing Company Ltd, Glasgow

Published by the University of GlasgowUniversity AvenueGlasgow G12 8QQTel. 0141 330 4919

ISBN 0 85261 764 XAll rights reserved© Jacqueline Donachie 2002