Family Stories About Myotonic Dystrophy
Stories are often the best way to illustrate a point, by showing the reader examples, rather than merely telling about the subject. In that myotonic dystrophy presents itself in a broad variety of ways, each family living with myotonic dystrophy has its own, unique story to tell. Every month the MDF will bring you a new story to help put a face on this disease. We will use pseudonyms to protect individuals' identities. Some stories will be written ---others in audio or video form.
Our first story, a poem, was written by Dr. Claudia Downing, whose daughter, born with a liver problem, died peacefully at home at age four. (Her liver problem was not related to myotonic dystrophy.) As a psychologist, Dr. Downing was interested to know how other parents react when faced with risky decisions related to their children. Her own family had grappled with the risks associated with the doctor's suggestion of a liver transplant. Because of low success rates and significant side effects at the time, they decided against the transplant; they would wait for improvements in the procedure and revisit the option later.
Recent advances in research as a result of the Human Genome Project have created the opportunity for genetic testing: diagnostic, prenatal and predictive. Dr. Downing's curiosity compelled her to explore the impact of these advances on families who live with genetic risks and difficult choices. She decided to interview and compare families living with two inherited disorders: Huntington's disease and myotonic dystrophy.
She was struck by the complexity of every story. In her poem about a family living with myotonic dystrophy, Dr. Downing was impressed by the woman she interviewed because she had managed to work through her frustration with her husband's problems. She determined that it becomes possible to form a different perspective from that originally held and enable the affected spouse to continue, to the best of his ability, to function as a parent.
Here she shows that with a lot of work, it is possible to choose our attitude about situations that befall us, and become more realistic about our expectations. In this poem she addresses confounding aspects that affect many people with DM: low energy and lack of initiative that unaffected individuals simply cannot comprehend and --- with disdain --- often judge as laziness.
In the second edition of Prof. Peter Harper's definitive book titled "Myotonic Dystrophy" and published in 1989 by W.B. Saunders Co., he wrote about this symptom. "All authors agree in finding a high proportion of patients with general apathy and inertia, not readily explicable by the degree of muscular disability. Caughey may...be quoted: 'We have found that affected individuals, when just mildly incapacitated, were often content to sit or lie idly for hours.' " (p. 153)
Dr. Claudia Downing completed a Postdoctoral Fellowship at the Centre for Family Research, University of Cambridge (England) funded by the Wellcome Trust under their Biomedical Ethics initiative (Award Reference: 065207, 2002-2005). Her research project is titled " Parenting in the space between health and illness: a comparative study of ethical dilemmas arising from the certain knowledge of a gene positive status for Huntington's disease and myotonic dystrophy."
Click here to read the poem.