Frontotemporal dementia support

Having the test for frontotemporal dementia

Louise Butler

I have two memories of my grandad. The first is of him sitting in a chair in his house playing solitaire card games. The second is holding his hand as we walked around the gardens of the mental institute he was in. This was my first contact with FLD at the age of about 3 and him in his early sixties.

Over the next ten years neither of my uncles or my mother appeared to have the illness but the thought was always there in the background. My mum would nervously joke about ending up in the same place as her dad. But at such a young age this was not my problem but the problem of old people!

In my mid teens I spoke to my aunt about my uncle Frank’s peculiar behaviour. She explained that he probably had the same illness as my grandad; even then the enormity of the implications didn’t hit me. A few years later my aunt gave me a name for this disease – Alzheimer’s, although this was later changed to Frontotemporal dementia. I was then curious and went to see what I could find out about Alzheimer ‘s disease only I didn’t know how to spell it. After trying many different spellings my boyfriend (now husband) suggested trying `old timers’, even though my uncle was still only in his fifties.

Around this time my grandma became unwell and both my mother and my aunt spent many hours caring for her and this put my mother under a great strain. Over a number of years my mother seemed to be having problems that could be attributed to stress and my uncle Clive also seemed to be having problems although we didn’t see him often. My family were already involved with familial research but research protocol means that they thank you, explain about the illnesses and the research but don’t give clinical information. So we decided that formal clinical investigations into my mother’s mental health were needed. At the age of 48 years we had a definite diagnosis for my mother of familial frontotemporal degeneration. I was 24 years old and my sister was 25 years old.

My sister and I had to accept for the first time the fact that we were now at risk and had a fifty percent chance of developing the illness. We also knew that this would be a major consideration when taking any decisions regarding having a family. I found myself pregnant the following year and even then I was not that worried about the age of the onset of the illness. My child would be at least 18 years old if I were to start showing any symptoms. Also the previous year my cousin had a son and she is the same age as me. We were all in the same boat and I felt safety in numbers.

I gave birth to a son at the age of 25 years and even with the prospect of developing the illness in the future, all was well. My family was involved with the PDSG and we were receiving plenty of information on possible future treatments, genetic testing and other developments for familial dementias from the hospital. Three years later both my sister and I became pregnant and again and I felt I would be well long enough to nurture a child to adulthood. This was a very difficult time, my mother was now very unwell, and my dad could no longer care for her at home. She moved to a nursing home and four days before my sister’s son was born she died. Four months later my second son was born.

Until spring 2002 I made my life decisions in spite of the disease and then the team at the hospital summoned my whole family for a meeting. They explained that the post-mortems carried out on my mother and uncle showed frontotemporal degeneration and that the research team had identified the faulty gene in our family. I hoped they would be able to offer us genetic testing and that at last there would be confirmation that I had not inherited the gene. I think I always felt that as I was considered to be like my dad the chances of me having the mutant gene were small. The neurologist did inform us that a genetic test was now available and we could consider our options. There are four of us in my generation who are at risk, myself, my sister and two cousins. My two cousins are my uncle’s children and as he was in his forties when they were born only the older can remember their dad well. My younger cousin had always known his dad unwell and that he was possibly going to develop the same illness. We stood in the foyer of the hospital and looked at each other. Very few words were said but we made the decision that we should at least give ourselves six months thinking time before we made any decisions about testing.

In October 2002 all four of us went for our first genetic counselling session. Eventually we gave a sample of blood for genetic testing in January 2003. At this time only my sister, one cousin and myself gave blood, my other cousin felt she was not at a stable enough time in her life to go through the process. Eventually only my younger cousin and I decided to receive the results. Previously we had all decided that even though we were united we should all receive our results separately.

Approximately a year ago both my cousin and I returned to the hospital to receive our results. Even though I was advised to expect the worst, it was only one week before that I managed to make myself accept the possibility of a positive result. As an optimist though, I felt a positive result didn’t necessarily mean I would definitely develop the illness, I know there is a lot of research being carried out at the moment.

It was on the 14th February 2003 that I returned to the hospital with my husband to receive the devastating news that I did indeed have the mutant gene. In a couple of seconds my life had been turned upside down. We returned home where my dad was looking after our children to give him the bad news. He was shocked. I don’t think he had actually considered the fact that I might receive a positive result. The following day I met with my sister and cousin and all we were able to do was stand there, hugging each other in floods of tears. All I was able to think about now were my sons and my husband. Not only would I not be around to look after them, they would now have to nurse me through one of the cruellest illnesses. Even worse was the fact that I now had to tell my sons that they were at risk.

My cousin who received his results had good news. Although I thought I would feel angry and jealous if this happened, I didn’t. For the first time in his entire life my cousin would now be able to wake up without having to dread what the future might hold for him. We joked that he would now have to get a proper job and a pension. I was also relieved that someone in the family had escaped as all three siblings in the previous generation had been affected. It made the odds for my sons more realistic.

The next few weeks were very hard; there were family and friends I wanted to tell and there were many sleepless nights. Many tears were shed. I wished I could have one more morning when I didn’t wake up with a feeling of dread. It all became too much and I visited my GP. She prescribed some sleeping tablets and mild antidepressants. Slowly things became better and eventually I was able to move forward with my life. Over the following months I visited the genetic clinic on two more occasions and I was given information about joining research programmes and groups that could now help me. These included help with discussing things with my children and legal advice. I also visited my GP often and she would just listen to me. This was a great help. Previous to receiving my results I made a top 10 list of things I would like to achieve or places I would like to visit before I develop the illness. I am already able to cross one off my list as this year I completed my Open University degree in chemistry and physics. I hope to go on to become a science teacher. My biggest motivation, even before I received my test results, was the fact that even if I became ill people would be able to see that I did have a good brain at some point. I think I feel this way because of how my mum and uncles had been treated by people who did not understand the illness. I have also returned to work as a part-time laboratory technician. This coincides both with me finishing my degree and my youngest son going to full time school. Although it feels good to be back in the work place I find myself wondering how long I will be able to do this.

Now I am able to look forward to the future again; there are many hopes I have for my children. My older son is doing very well at school and shows a natural aptitude for maths and the sciences. My younger son is very mischievous and I’m sure will also do well. Even though it is wonderful to see them grow and develop and I am grateful to be with them, I know every milestone reached brings me closer to the day when I will no longer be able to care for and support them.