Retired Civil Servant Pam Thomas, 74 and from Cardiff, was married with two children before she became aware that the hereditary and currently incurable neurodegenerative condition, Huntington’s disease, ran in her family.
After watching her aunt and mother develop symptoms of the disorder, Pam has now decided to mark Huntington’s Disease (HD) Awareness Week (15-21 May) by speaking out about her own fears of inheriting and passing on this deadly condition.
“My mother’s elder sister Sylvia was diagnosed with Huntington’s chorea – as it was then called – when she was in her 50s,” Pam recalled.
“Although the family were aware my aunt had some mental disorder, we didn’t know the cause at the time. My mother Grace, who was three years Sylvia’s junior, also showed signs of odd behaviour but not as obvious as my aunt.”
A decade after Sylvia’s diagnosis, a Cardiff University team led by Professor Harper tracked down other members of Pam’s family. The team was in the process of setting up a database to monitor the hereditary nature of HD – a forerunner of the University’s ‘Enroll’ project.
“I remember being invited to a meeting at my father’s house with a doctor, nurse and social worker,” said Pam. “The information given to us that day was shattering and left us bewildered, confused and upset.
The disease is caused by a single defected gene that attacks the brain’s central nervous system and results in the person struggling with everyday tasks they once took for granted such as basic movement, thinking and feeling.
“Although the team was very supportive, it was difficult to take it all in at once. The next day my father and I visited central library to gain as much information as we could about the little known disorder HD.”
Each child of a parent with HD has a 50% chance of inheriting the gene; it doesn’t skip a generation, so if a child tests positive they will, at some stage, develop the disease. It’s like tossing a genetic coin.
‘Dark cloud of worry’
“My father bore the brunt of looking after my mother at home until it became too much for him,” said Pam. “She died when she was 70 years old in Nazareth House nursing home. I had been working full time and bringing up my own two children during this time.
“For a number of these years I was an active member of the Huntington’s Disease Association, though this lapsed after my mother’s death.”
Upon discovering the concerning genetic implications of Huntington’s disease, Pam made the decision to be sterilised to ensure she would not pass on the gene.
“Knowing a hereditary incurable illness may exist in our genes definitely casts a shadow of uncertainty over our lives,” said Pam. “Life decisions that should be exciting such as having future children suddenly become an issue of careful consideration.
“Every family is different, but a positive HD diagnosis when you already have children can lead to a lifetime of real worry.
“I decided not to take the HD test, meaning I’m still most likely classed as ‘at risk’, but as more time passes the dark cloud of worry lessens.”
‘Misdiagnosis is a challenge with HD’
“My son and his wife took counselling before they started their family,” Pam explained. “And now I have three lovely grandchildren. My daughter has no children, her choice from the circumstances of her life, which is full and enjoyable.
“Misdiagnosis is often also an issue that needs tackling with Huntington’s disease. That is why Cardiff University’s research is so important for investigating the symptoms and potential therapies of HD to promote accurate, early diagnosis for patients.”
BRAIN Unit research
Last year, Pam became part of an Enroll study led by Cardiff University’s BRAIN Involve committee, which brings together patients, carers and academics to shape cutting-edge research into neurological and neurodegenerative diseases.
The committee is run by the University’s Brain Repair And Intracranial Neurotherapeutics (BRAIN) Unit, a research organisation working to develop new therapies for brain diseases in collaboration with Swansea and Bangor Universities in addition to colleagues in NHS Wales and industry.
“The best part of this journey is now knowing the gene should die out in our family,” said Pam.
“Working with Cardiff University’s BRAIN Involve team helps us find a purpose in our experience of this debilitating condition. It is the hope that, someday, these pioneering researchers will make groundbreaking discoveries that can save and improve the lives of future generations suffering from Huntington’s disease.”
- For more information about the BRAIN Unit, please visit: http://brain.wales/