Up@dawn 2.0

Monday, May 1, 2017

Life with a Rare Genetic Disease: The Science, the Suffering and the Hope

Two new books — “Mercies in Disguise” by Gina Kolata and “The Family Gene” by Joselin Linder — look at how individuals cope with devastating genetic diseases.

If life can be a Hobbesian trial — “nasty, brutish and short” — then for adults with rare genetic diseases, life can sometimes be nasty, brutish and long. Take the ordinary difficulties of getting through the day and add, for example, loss of motor function, a deteriorating memory or a blocked vein in the liver and a body so swollen with lymphatic fluid that clothes and shoes no longer fit. Now throw in lack of a diagnosis and dwindling financial resources.

While the precipitous drop in the cost of DNA sequencing has helped many rare-disease patients and their families find answers they could not have only a few years ago, many more continue to embark on protracted “diagnostic odysseys” involving expensive visits with one flummoxed specialist after another. The unexplained disease brings shame, denial and sometimes blame. Along the way patients ask: Why me? It is both an existential question and a basic human desire to know oneself — to understand what is happening to one’s body. Such knowledge might lead to a treatment for, or at least, better management of the condition.

The narratives of families suffering from such diseases traffic in these questions and a roiling stew of emotions: confusion, anger, determination, resilience, love, and moments of profound despair and hope. The seeming scarcity of the last asset — hope — can make books like Gina Kolata’s “Mercies in Disguise” and Joselin Linder’s “The Family Gene” hard to read: We know at the outset that many of the characters and some of their loved ones either carry or are at risk of carrying glitches in their DNA that will cause them anguish and most likely fell them before their time... (continues, nyt)

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