Lampert highlights Fragile X syndrome in latest novel

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Hedi Lampert

Book review

‘Nobody really knew what the trouble was with Aunty Vi – all I knew, was that it was Gran’s fault.’  

When an unplanned pregnancy threatens to turn the life of 32-year-old, single, careerwoman Leah Fine upside down, she fears her own child may be impaired, just like her aunt. But how do you test for a problem when you don’t know what the problem is? In a frantic search to discover the truth about her aunt’s condition, Leah learns she may be a carrier of an inherited genetic mutation – Fragile X – a leading cause of cognitive impairment, learning disabilities and autism. Not only must she wrestle with the heart-breaking option of termination, but in her search for answers, she uncovers secrets which alter everything she has come to know and trust. 

Set within the context of traditional Jewish family life, during the last 30 years of the 20th Century, The Trouble With My Aunt is written with both humour and insight, while offering a  brutally frank account of the emotional and social dynamics of caring for an intellectually challenged relative, particularly during an era when little or nothing was known about the particular condition or its causes. 

Moving and captivating, this is a testimony to the fiercely powerful bonds of motherhood and sisterhood, as well as a sensitive examination of the sacrifices we make to uphold ingrained principals and prejudices, while keeping our darkest secrets hidden.

Praise for The Trouble with My Aunt

‘Spun through with love, lust, and a healthy helping of humour, this richly evocative saga of family and destiny grabs you by the heart and never lets go.’ Gus Silber

‘Leah Fine’s life is about to change, in ways she could never have imagined …  This is the story of a young woman at the centre of a wonderfully convoluted family saga, incorporating an intriguing medical conundrum and a roller coaster romance… These are the ingredients that make The Trouble with my Aunt such an engrossing read. Holding it all together is the love mothers have for their children. Deep, abiding, sometimes confused but always true, this love links three generations of Leah Fine’s family.’ 
Máire Fisher, author of Birdseye and The Enumerations

‘This delightful read is full of rich and complex characters, wit and wisdom.’  Sarah Bullen, author and agent

‘Pacy and highly readable, the characters are instantly recognisable – Hedi Lampert has recreated a family we all know. She has also opened the door on a subject that is perhaps uncomfortable at times, but undoubtedly needs to be discussed and understood.’ Beryl Eichenberger, Fine Music Radio

‘An insightful book with an engaging and endearing plot, through which the reader gains knowledge into the genetics of Fragile X syndrome and the emotional journey families endure, as well as the decisions they are faced with when dealing with a genetic condition.’ Fahmida Essop (MSc, Med) Senior Medical Scientist / Laboratory Manager / Lecturer, Molecular Genetics Laboratory / Division of Human Genetics, National Health Laboratory Service (NHLS) & Wits University

About the author

Hedi Lampert is a published author and award winning journalist. She has grown up with an aunt who suffers from Fragile X syndrome, and has spent the last 15 years researching the condition. Hedi brings an insatiable curiosity in the fields of genetics, psychology and relationship dynamics into her writing, which has been described as witty, warm, honest and invariably, profoundly insightful. She is also a magazine editor, writing coach, professional speaker, voiceover artist, photographer and food stylist.

Hedi lives in Cape Town with her son and daughter, a mostly Labrador called Jemima, three cats and Nero — an albino squirrel.

Author’s note
The character of Vi is based on my mother’s sister. Born in 1933, she grew up during a time when children like her were viewed in no uncertain terms as ‘retarded.’ The prevailing educational system had no place for these individuals, and their families had little or no support, thus institutionalisation in facilities for the mentally handicapped was seen by many as the only viable option. 

In his will, my grandfather stated that his daughter should never be institutionalised, and indeed, as long as my grandparents were alive, my aunt lived with them. My grandmother did what she believed to be her very best by her daughter, and never gave up trying to teach her to read and write. She also ensured that my aunt was impeccably groomed, well-mannered and generally socially presentable at all times.

It was only in the mid to late 80s that we were made aware of Fragile X syndrome, and I was tested for it, as were my mother, grandmother and aunt. At the time, our blood was sent to a laboratory in Belgium, as no tests were available in South Africa.2 My grandmother was found to have a premutation (she was a carrier) and my aunt, a full mutation with all the symptoms of Fragile X syndrome. My mother and I both tested negatively.

After my grandmother died, my aunt became my mother’s ward. Having devoted her entire life to ensuring that her intellectually challenged younger sister wanted for nothing, this was a natural progression for my mother, but it was not, by any stretch of the imagination, easy. What troubled my mother even more though, was the thought of not being around to care for her sister. She confided to me on more than one occasion that she was terrified to be the first of the sisters to die, lest someone else have to take on the burden of my aunt’s care.

The sad, but honest truth is that the fallout of intellectual disability is not restricted only to those who bear the problematic genetic composition, it affects parents, siblings and next of kin in any number of negative ways. My aunt has been and continues to be a dependent, and it has been a drain on my family’s resources – both emotional and financial. It’s important that the reader understands that The Trouble With My Aunt is a story told from one person’s point of view, the character of Leah, based on her unique experience of growing up with a relative suffering from Fragile X syndrome. It must be viewed in the context of the available medical science of the time and of course, the prevailing societal attitude, which was impossible to ignore.

Today, diagnostic tests are readily available, globally, and websites on the subject abound, as do positive stories about Fragile X syndrome sufferers who are leading happy, productive lives thanks to knowledge, ongoing education and the tireless work of active and growing support groups for families affected by the condition. It almost goes without saying that the terms, ‘defect’ or ‘mental retardation’ are strongly discouraged when it comes to discussion or treatment.

If my aunt had been born any time from 1990 onwards and particularly in the new millennium, the chances of her leading a more integrated and by societal standards, more productive life would have been far greater. This said, challenges do remain; “individuals with the full mutation often have developmental delays, attention problems, hyperactivity, autism, and behaviour problems, though there is wide variation in the FXS (Fragile X Syndrome) phenotype. Individuals who are premutation carriers of Fragile X, may experience cognitive or emotional challenges, although less severely. Carriers are also at risk for Fragile X-associated primary ovarian insufficiency (FXPOI) and Fragile X-associated Tremor Ataxia Syndrome (FXTAS). Collectively, these challenges may make it harder for families to adapt to the needs of their child (or children) and often have negative effects on parents themselves.”

1. https://fragilex.org/news-reports-and-commentaries/examining-factors-that-lead-to-positive-family-adaptation-to-fragile-x-syndrome/

2. DNA testing for FXS has been available in South Africa since 1994 at the Division of Human Genetics (DHG), National Health Laboratory Service (NHLS) and the University of the Witwatersrand, Johannesburg.

http://www.samj.org.za/index.php/samj/article/view/7144/5768

Some history

James Purdon Martin and Julia Bell first described Fragile X syndrome in 1943. They reported a family case study in which intellectual disability appeared to be inherited and linked to the X chromosome.

In 1969, Herbert Lubs made the observation of a characteristic fragile site on the lower end of the X chromosome.

The FMR1 gene on the X chromosome that is associated with Fragile X Syndrome was identified and sequenced in 1991.

http://www.findresources.co.uk/the-syndromes/fragile-x/history-prevalence

Fragile X Syndrome (FXS) is actually considered the most common inherited cause of intellectual disability and the second most prevalent cause after Down syndrome. Most cases of Down syndrome are de novo, but FXS is always inherited, with many individuals in the family tree either affected or a carrier of FXS.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350386/

Details
Title: The Trouble With My Aunt
Author: Hedi Lampert
Publisher: Porcupine
ISBN number is 978-1-928455-49-3
Genre: Autobiographical novel / Medical conundrum
288 pages
RRP: R290
ISBN: 978-1-928455-49-3 
Distribution: RNA – to all good book stores

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