In 2003 Merle Futter stepped up to the podium in Jameson Hall to get her PhD, never imagining she would repeat the exercise four years later.
After obtaining her first PhD in social work, Futter left the Division of Physiotherapy to join the Division of Human Genetics, carrying out research into Huntington disease for her second doctorate. This work was funded by the MRC.
Her thesis is an evaluation of predictive testing and clinical genetic counselling services for Huntington disease in the Western Cape over eleven years.
Foot-slogging is a term that comes to mind for her fieldwork; legion house visits and interviews of those who'd undergone predictive testing for the disease during this time. She also visited patients who'd attended the neurogenetic clinic at Groote Schuur Hospital over the past three years, as well the patients' caregivers.
"This was to compile comprehensive socioeconomic, psychological, medical, functional and social profiles of the three different groups of participants, to better understand the environments from which they came," Futter said.
Futter employed a phenomenological approach to her research.
"It is the best way of understanding real-life events in their natural setting from the participants' perspective."
The findings have enabled various aspects of the Huntington disease predictive testing programme and neurogenetic clinic to be improved according to the participants' recommendations.
Improvements include additional counselling sessions for one year after genetic test results. Patients and their caregivers are consulted separately by the neurologists to facilitate discussion around the difficult behaviours associated with patients with Huntington disease.
"This also allows the neurologist an opportunity to deal with the health issues that the caregivers might be experiencing as a result of caring for their relatives."
The predictive testing programme has also been made more accessible to those from lower income groups.
"It was a steep learning curve about the genetics of Huntington disease. But I had a great deal of support and input from the staff and students of the human genetics and neurology divisions. This enabled me to complete the research in two years.
"It was a very rewarding experience as the research findings were put into practice before the write-up was complete.
"As Huntington disease is devastating for the affected individuals and their families - there is no cure for it - the changes to the predictive testing programme and neurogenetic clinic ensure that the individuals and patients receive optimal care and management."
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