The Story Within - Personal Essays on Genetics and Identity
Edited by Professor Amy Boesky
Published by Johns Hopkins University Press
ISBN-10: 1421410966, ISBN-13: 978-1421410968
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Over 30 years ago, those who taught clinical genetics to medical students and other health professionals focussed on the triple difficulty of explaining a genetic disease, its inheritance pattern and its scientific basis. Early attempts to make students consider the impact on affected families were, if tackled at all, based on presentations by forthright members of the burgeoning self-help groups or genetic alliances. Occasionally there were workshops that used role play to illustrate common scenarios.
Now, there is a growing literature of personal memoirs, wonderfully exemplified by this splendid monograph edited by Amy Boesky, which recounts stimulating stories for in-depth psychosocial teaching. Each story in the collection is written by someone (including Amy Boesky herself) with a genetic condition in the foreground of their life. They offer clear and passionate accounts of what happened and how it felt, and all the contributors are inspired communicators, who each cover the challenge of 'What we have' with clear language, honesty and great humility. Many belong to that rare breed who can tell us the facts of their story, as well as revealing their fears and hopes.
After an introductory chapter by Boesky, the book is arranged in three sections. The first covers what the authors experienced as they found out about their conditions and learnt to understand the genetics. In this section Kelly Cupo describes several disturbing examples of what friends said to her about her mother's diagnosis of Huntington's disease: 'Really Kel, we're all kind of selfish... You are selfish too, you know. You're here at college when your mom is at home sick. Instead of being there for her, you're here, hours away.' Billy brought up something his dad had told him, 'The most important thing to look for in the person you settle down with is good genes'.
You must read all of this and be humbled. (Oh God. Did I ever say anything similar!)? The second section covers possible interventions taken up, given the genetic situation (ranging from pre-implantation genetic diagnosis to prophylactic breast surgery, to heartfelt prayers for sight to be restored for a father with retinitis pigmentosa). This section also illustrates how life feels like when living with adverse genetic knowledge. Learning of Anabel and Isobel, identical twins with cystic fibrosis is absolutely gripping. A shared duty to look after each other, complementary commitments to others (Anabel became a genetic counsellor and Isobel a medical social worker), three (!) lung transplants and over sixty hospitalisations and this is what they wrote: '...our culture, our twinship and yes, even our CF genes – have empowered us to do more, be more and grab more out of life than most people of our age'.
The final section considers how the knowledge of the possible transmission of a genetic disease to the family is confronted. Emily Rapp poignantly describes life with her son Ronan, who was diagnosed with Tay-Sachs disease at nine months and who suffered the inevitable deterioration by age two and a half years. Her closing lines are: 'Ronan was mine. I didn't want him to be another, different baby. I couldn't imagine not having had a part in creating him, or not having known him. I did not run away from him or rush out of any rooms. I stayed put. And I never wanted him to be perfect. I wanted him to live.'
The patterns of inheritance included in these essays range from the autosomal dominant (Huntington's disease, pathological BRCA1 mutations, familial Alzheimer's disease and hypertrophic obstructive cardiomyopathy), autosomal recessive (cystic fibrosis, Fanconi's anaemia, Tay-Sachs disease and deafness due to a Connexin 26 mutation), X-linked (fragile X, retinitis pigmentosa and Duchenne muscular dystrophy) and all the way to the multifactorial examples, such as manic depression and schizophrenia. There is a memoir of one geneticist who, having been through the process of having his genome sequenced, became a campaigner for more openness by researchers and for the dissemination of research results to all participating 'subjects'.
When medical students really feel that they understand genetics – that inherited diseases can be ascribed to dysfunctional effects of mutations, that the genetic code economically displays more information on diversity than we ever imagined and that the next step is to manipulate abnormal genomes towards a medical notion of normality – let them all read 'The Story Within' and be brought down to earth with a bang. I know I was.
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