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#15 Always trust your gut

Updated: Jan 8

It's been just over 2 months since I wrote my last blog, and what a 2 months it's been. I'll be honest, I don't think mum living with dementia has ever been as hard as these last 8 weeks. Every single day she appears worse; less responsive, lack of appetite for food, she's also smiling less which makes me sad (even though I'm pretty sure they're fake smiles anyway and she just copies me). I'm only opening on a complete downer because I want to be real, around 5 weeks ago I hit an all time low and went through a phase of regular panic attacks, high emotions and constantly feeling overwhelmed. Thankfully this has now passed and I'm thinking more rationally, but I have to mention this because I want others who are in a similar situation to know: this is normal. Feelings like this come and go, but you will always get through them so stay strong and talk about it with those you trust.


Moving on, though this next topic could well have contributed to how I've been feeling recently, I want to talk about genetic testing. Before I start, Compliance Jess wants to give a disclaimer. Please remember I am not a doctor and everything I write about today is based on everything I have learnt through vast amounts of reading, speaking with genetic counsellors, speaking with consultants and taking part in the GENFI Study (which you should absolutely check out here). One thing I have learnt is that FTD is complex and everyone's experiences are different, because of this, what I say today may not be applicable to everyone.


I first found out that FTD can be hereditary before mum even had a diagnosis. To be exact, mum was diagnosed with bvFTD. This stands for Behavioural Variant Frontotemporal Dementia, which is the most common form of FTD (there are 3 different types). As you know, I had a pretty strong feeling this was the cause of mums symptoms so naturally started reading into it. It's reported that for up to 30% of all people with FTD, the condition is known to be caused by a mutation in a single gene. It's important to know this because if you have a parent or sibling living with FTD, it doesn't mean you're definitely going to develop a dodgy gene and inherit this yourself.

Anyway, once I found out mum had bvFTD, the first thing I wanted to do was find out if this was indeed caused by a mutation in a single gene. If this is the case, it means there is a 50% chance my brothers and I could have inherited it (the gene). The first thing I did was speak to the consultant who provided us with details of a clinical and laboratory service for people affected with, or at risk of, a genetic condition. This clinical service is based in Leeds, and is offered to the population of the Yorkshire and Humber region.


The first step was to determine if mum was eligible for testing. This was simple - yes she was. They looked at her medical records, acknowledged FTD can be caused by a gene mutation and therefore agreed to what is called 'diagnostic testing' (I'll explain what this means later in the blog). The second step was for mum to provide blood samples, and I was worried about this. Symptoms were getting worse and I wasn't sure if someone sticking a needle in her arm would freak her out, but she smashed it like an absolute boss, weirdly with a creepy smile on her face all the way through... Finally, the third step was to wait 6 months.


I'm just gonna do a quick pit stop to let you know that this is really f*cking difficult to explain... I'll do my best without making it sound too boring or technical (although I bloody love it).


It is estimated there are circa 20,000 - 25,000 genes in a human body. Research shows FTD can be caused by a mutation in only 1 single gene, so it's pretty hard to find. Some amazing genetic specialists, however, identified the main 3 genes which, if mutated, will cause FTD. These genes have names and are called:

  1. C9ORF72

  2. MAPT

  3. GRN

To make it easier, the genetic specialist completed a 'gene panel test'. This is a test which analyses multiple genes at once for FTD associated mutations. Focused panels contain a select set of genes or gene regions that have known or suspected associations with the disease, which is useful given the 3 main genes are already recognised.


Now before I continue, I have done a lot of research about this, but genetics is very complicated and I only briefly know about the areas which impact me. I have read countless articles and study papers so felt somewhat confident when speaking to professionals.


Just 3 months later, I received a letter which basically said 'Good news! We've tested the panels and we haven't detected any mutations'. As soon as I read the letter, I instantly needed more information. Quite frankly, I didn't believe it... Who did I think I was? Challenging professional experts who have spent numerous years studying this specialist subject, and I come along after doing some internet research questioning their decision. I had a gut feeling though, so I went with it.


After requesting additional information, I found that only MAPT and GRN had been tested.I asked why C9ORF72 wasn't included in a panel test and after some radio silence, the response was 'Oh my god, I don't know. When are you getting your PHD in this?'. I humbly shrugged this off but inside I was as smug as they come, having a little celebration dance in my mind.


Anyway, the celebration soon ended when 3 months later, the second set of results came back which confirmed a mutation was detected in C9ORF72. Shit. Always trust your gut.


In everyday life, what does it mean if I have inherited this gene? To make this simple, I'll list the key things:

  • It means I will also develop FTD. However, I did read an Alzheimer's Society blog which states; Everyone who inherits a MAPT or GRN mutation will develop FTD, but this isn't true with C9ORF72. For reasons that are not clear, some people have the C9ORF72 mutation but do not go on to develop FTD. I was hopeful when I read this, and questioned a neurologist who said 'there has been 1 or 2 instances when this has happened, and because of this, it's against the law to state it's 100% of the time. The reality is though, there are no ifs, buts or maybes, it's 99.9% likely you are going to develop FTD.

  • At present, there is no cure or treatment to slow down the symptoms.

  • It can happen at any time, there is no minimum age you can develop FTD (in fact, someone in America is aged only 29 and is living with FTD), though based on family history, this will likely present itself when I am in my 50's.

Before I explain the process for my own testing, there is something important I want to mention. Throughout my journey, I have found there are two types of people in the world; those who would never want to know, and those who can't rest until they know. Both types of people always try and sway you one way or another and they want you to see it from their perspective. For me, this has been purely my decision. I haven't been influenced in any way, I have thought long and hard about it, I have taken my time and even sought professional therapy to ensure I'm fully prepared for whatever result I receive. I am ready, and I wouldn't proceed with this if I wasn't.


Once I found out mum had the mutation, it did take a while for me to get the ball rolling. I guess I just needed this time to think about if it was right for me, but once my decision was made, I was on it. The process is pretty simple really and follows 5 basic steps:

  1. I took the letter I received, which confirmed mums mutation, to my GP

  2. My GP made a referral to the same clinical service which mum attended, only this time I'm the patient

  3. A big one: Counselling. I had to attend 4 counselling sessions (with their in-house Genetics Counsellor) before they would even consider giving me a test. They needed to be absolutely certain I am prepared for the results and the last session in particular was quite intense. I had an interview with 3 medical professionals, some of whom played devil's advocate and really challenged my decisions. Whilst some of this interview was frustrating because I was so sure of my choice, I can see why this is required. For those who aren't 100% sure, it's incredibly valuable and provides lots of information.

  4. Now they're satisfied, they have posted a blood pack and I am booked in tomorrow at 9.30am (at my local hospital) to provide a blood sample.

  5. Now I wait, the results will be available in 2-3 months.

The whole thing is pretty similar to mums journey, but the difference is instead of it being called 'Diagnostic Testing', this is called 'Predictive Testing'. The difference is pretty straight forward, Diagnostic Testing is used to find out if you have a condition associated with symptoms you already have, and Predictive Testing is used to search for genetic mutations linked with a condition before you show symptoms.


Whilst the process seems simple, it has taken 15 months to move from steps 1 - 5, and it still isn't over. This was for a number of reasons, I got lost in the system at one point and it actually took 5 months to reach step 2. I found it so incredibly frustrating at the time, but now I'm actually waiting, the nerves have kicked in. In the end, the waiting has actually given me additional time to process what is happening so I have no grievances.


In another blog, before I receive my results, I will explain why I've decided that knowing is for me. For those who are in a similar situation (I have had numerous messages regarding testing), I don't want my reasons to influence you so it's not really important. However, one key reason is down to family planning, and I do believe I have some useful information which may be valuable. Remember though, this is your decision and you must feel comfortable. It's a pretty big deal after all.


#dementia #frontotemporaldementia #ftd #blogger

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