Frontotemporal dementia (FTD) - Wendy's story
Wendy is no novice when it comes to supporting family members with frontotemporal dementia (FTD). Wendy's older sister, Linda, was diagnosed with FTD in 2008, and Wendy and Jeff supported her in care until her passing in 2014. During this time, Wendy's brother, Sean, was also experiencing difficulties and started seeing a neurologist. It was later determined that Sean was also developing FTD.
With two close family members diagnosed with FTD, it was suspected that their conditions were due to an underlying genetic cause—prompting whether Wendy was also at risk of developing FTD. Subsequent genetic testing confirmed that Wendy carried the same gene defect as her siblings. The consequences of these findings meant that Wendy would, in time, develop FTD.
The news shocked Wendy and her partner, Jeff, who said that he was in denial about whether the genetic findings would mean that Wendy would go on to develop FTD, but then Wendy's symptoms started to emerge.
"I was probably the one who was more in denial, and eventually, I had to accept that. And little by little, over the years, I've noticed functional changes in how Wendy behaves and what she is able to do and not able to do. Most people would not even know from talking to her that there are areas of life where there is some impairment," Jeff explains.
Today, Wendy experiences problems with daily tasks and decision-making; however, she is doing her best to live well with dementia and push back on the societal stigma by choosing an optimistic outlook:
"I've seen signs on the backs of cars saying adventure before dementia," Wendy shares, "and mine is adventure with dementia."
As Wendy's condition is genetic, her daughters recently received a letter from Wendy explaining that if a family member has been diagnosed with this illness, there is a 50 per cent chance of inheriting the illness.
"That meant that both my daughters made a conscious decision to have some genetic testing done. My eldest daughter did it just for information."
Fortunately, both of Wendy's daughters do not carry the gene defect.
Wendy continues to participate in FTD research with the FRONTIER Research Group, as she wants to help others diagnosed, while living out her motto of adventure with dementia.
Living with frontotemporal dementia | Wendy's story
More on FTD and the FRONTIER Research Group
Frontotemporal dementia is the second most common younger-onset dementia (i.e., before the age of 65 years) after Alzheimer's disease. Most FTD cases are sporadic, meaning that the cause of the disease is unknown. In 10-20% of cases, however, FTD is caused by a gene defect, so it runs in the family. One challenge with FTD is that the presentation varies markedly from person to person, depending on which area of the brain is first affected. In general, changes take place subtly and can mimic a host of other disorders, making the journey to diagnosis difficult for patients and challenging for clinical research.
"Genes are complicated things; in FTD, defects in three genes are responsible for most familial cases of the disease. Inheritance of the genetic abnormality will result in the development of the disease. These are known as autosomal dominant genes. For other genetic conditions, it is the combination of various genes and their interactions with the environment," explains Professor Olivier Piguet, the director of the FRONTIER Research Group.
"Of course, there is much to learn about the various genetic and non-genetic contributions to FTD, and our research is exploring these avenues."
The FRONTIER Research Group investigates genetic information in a strict research context. People wanting to explore their genetics should speak to their treating physician to organise a referral to a professional genetic counselling service. Genetic counsellors, such as Ekaterina Katcanda from the FRONTIER Research Group, can facilitate consent and communication of genetic information, as well as addressing risks, benefits and limitations of genetic testing. This professional setting will provide the person with appropriate support and allow the person to determine if genetic testing is appropriate for them.
“Genetic testing allows patients and their carers to learn more about their condition and understand its mechanisms that can be important for some,” Genetic Counsellor at the FRONTIER Research Group Ekaterina Katcanda explains.
“On the other hand, learning about the genetic causes of dementia can be disturbing and lead to psychological distress and a sense of guilt in our patients. This information can potentially change the lives of young and healthy relatives who, as Wendy did, received the news that they may develop a devastating, non-curable condition in the future.”
For these reasons, decision-making around genetic testing is not straightforward and needs to be considered in privacy. Specially trained professionals, such as genetic counsellors, can help clients to consider all factors and come to the solution that works for them.
More information and help
For more information on FTD and genetic testing and counselling, visit the FRONTIER Research Group website.
Clinicians can arrange a referral to the FRONTIER Research Group at the Brain and Mind Centre by emailing frontier@sydney.edu.au.