These stories highlight the many different experiences people have in terms of getting a diagnosis, and how they choose to live with and respond to what is a very difficult diagnosis to be given. Thank you Juanita for sharing your story.
I am 54 and I have young onset early stage behavioural variant frontotemporal dementia (bvFTD)
I have a strong family history of what we now know is bvFTD. My grandfather was quite some time along the dementia track, and he was misdiagnosed as having Alzheimer’s, even though, in retrospect, he had shown classic symptoms of bvFTD.
An older brother also had the same condition and we believe their father also had dementia, and may be others in his heritage.
My father has lost his sister and two younger brothers, and has another younger brother undergoing testing for this condition. After dad’s younger brother died his daughter a nurse started serious research into the condition and discovered the research group Frontier, located then at the University of New South Wales research group – Neura, which specialised in frontotemporal dementia research.
They were keen to have my father joined them as a research participant in their main research project and threw them he was diagnosed as having bvFTD and the genetic mutation involved was discovered – C9orf72. My sister and I indicated that when they started research that was applicable to us we were willing to join.
I have a background in science research, so once this was discovered I read all the scientific literature that about this condition and this mutation that I could put my hands on. This included the current diagnostic criteria for bvFTD. As soon as possible I had myself tested for the mutation and received a positive result – I had the mutation too.
This had been two years since my dad’s initial diagnosis due to delays within the free State Government sponsored testing system. The genetic counsellor told me that she could not tell me much about my prognosis except that it was not case of if but when I would get the disease. This result didn’t actually surprise me as I was already aware of minor changes consistent with the diagnostic criteria.
Within a few months of my genetic result, I had convinced my GP to refer me to a neurologist for testing. My initial neurologist was convinced that I probably had dementia, but he specialised in movement disorders rather than dementia so he referred me onto his colleague who runs a clinic in atypical dementias.
So about seven months after the genetic diagnosis I received a diagnosis of dementia – definite bvFTD with the early signs and known genetic mutation leading to bvFTD. The neurologist told me that I was extremely early in the dementia journey, and that he had never diagnosed anybody this early. Then wanted to put me onto pharmaceutical interventions which I adamantly refused.
A few months before getting my genetic diagnosis, Frontier in was able to obtain funding to run a longitudinal study to endeavour to identify early changes in biomarkers/scan data for Dominantly Inherited Non-Alzheimer’s Dementias – DINAD. My sister and I and my cousin all became participants in this research. The genetic counsellor of this research was pleasantly surprised at my knowledge of the disease and suggested I become a genetic counsellor myself. So this year I have commenced studying Master of Diagnostic Genomics, with a plan to continue into a PhD program.
Once I had my diagnosis I was no longer eligible for the DINAD program, and volunteered to join the same research program that my father was in. I went into my first assessment with this program only to find that not only had they placed me in the research program I thought I was joining, but many other researchers wanted me to join their projects as well – so many that I lost count. Because I am so much earlier in my dementia journey than the standard research participant I can give a different perspective to the research so they are all keen to have me participate.
I would like to repeat here part of posts (edited) I put on the Facebook page – Living Healthy with Early Onset Dementia – on August 22nd.
Saying this may sound crazy, but I’m grateful for the genetic mutation underlying my dementia … I have heard too many stories of the difficulty people have in getting an accurate diagnosis or any diagnosis at all, and my heart goes out to you all.
I am glad that I have this diagnosis while I am still able to describe what it feels like to be on this side of dementia as researchers characteristically state that people with bvFTD lose the capacity to assess their own changes early in the disease process. I can see this with my dad who is in late mid stages of the same disease. He variously denies any problems or says he’s getting better, whereas my mum and I can see his degeneration.
The downside of this is that researchers don’t bother to ask people with a lived experience and just rely on carers and clinicians observations to describe the characteristic diagnostic conditions. I am in the unique position to describe this lived experience, as most people with this dementia are diagnosed too late, or haven’t read the scientific literature to know what erroneous conclusions to challenge.
…Within a few days of my diagnosis I had applied to join Dementia Alliance International and attended my first support meeting within two weeks of the diagnosis. I have now joined their action team. I have become an advocate with Dementia Australia and applied to join the Dementia Australia Advisory Committee.
When I joined as an advocate with Dementia Australia, I agreed to become part of a focus group. The Australian Commission on Safety and Quality in Health Care asked Dementia Australia to assist with rewriting a Cognitive Impairment Fact Sheet to be used in healthcare settings. I volunteered to help in a focus group in my hometown but before that happened I had to come down to Sydney and was invited to join the Sydney group.
As a result of participating in this project I’ve been asked and agreed to three more. The next week I talked with a researcher from a group that has been commissioned to do research on behalf of the Royal Commission into Aged Care Quality and Safety. Late in August I agreed to be filmed as part of a video to be released Dementia Australia Action week.
In a few days’ time I will be involved as a panel member representing those with a lived experience of dementia in the Decoding Dementia Mentoring Workshop which is assessing new technological innovations to help people living with dementia. In October, I will be speaking publicly about dementia for the first time. Dementia Awareness and Advocacy Team is a group that I joined in my local city, and I am speaking at their annual one-day forum.
These posts well describe my feelings and emphasises my motto:
Dementia Is a Journey – Not a Destination.