Genetic testing for MND

[Vicky86]

Hi all

I lost my father to ALS in December 2019. At the time my dad opted not to have genetic testing as he didn’t want to frighten me about my future.

as far as I know nobody else in my family had or has it. My aunt (dad’s sister) had Parkinson’s disease though.


myself and my partner and now about to embark on our IVF journey and are concerned about whether I could have inherited the gene from my dad.

I have for the last couple of months had a strange butterflies sensation in my stomach which goes into my thighs and I’ve been panicking this may be to do with mnd. It may well be that I’m looking for it anxiously because I have the fear around it. I’m trying to see a neurologist but the nhs waiting list is so long. These sensations aren’t getting more frequent or affecting anywhere else, just the same as when they started.

has any body been in a similar position? Were you eligible for testing? Can testing tell you definitively if you have the gene or not these days?

does anybody know if during ivf they can remove the mnd gene to avoid passing it on? Appreciate this one may be a question for the fertility clinic.

any input is appreciated, I have enough anxieties around my whole fertility situation (my health concerns in that way) and this worry is adding further to it along with dredging up heartbreaking memories of my father and the time I spent caring for him.

[Ellie]

At the time my dad opted not to have genetic testing...

Was your father offered genetic testing by his MND Clinic or did he choose not to pursue testing privately?

[Vicky86]

I think he was offered it (was being seen on nhs) but he declined

[Zante]

https://healthtalk.org/Familial-MND/Options-when-having-children-in-families-affected-by-inherited-MND-Genetic-testing-and-pregnancy

I am not very technical but hopefully a link might have appeared. About genetics and mnd and ivf. Hope this might help.

[Vicky86]

Thank you 🤗

[Mymothersdaughter]

Hello Vicky86 my wonderful mum died of MND in August 2022. I asked about genetic counselling (as it’s called) and asked my GP to refer me. I’m currently going through the process. I have had one appointment where they asked me about my mum, family history and what I would do with the information after testing. They discussed the pros and cons. I was told It can affect mortgage applications, life insurance etc and of course there’s the question of how you will live your life with whatever information they give you (dependent on what the results are), particularly considering it’s not something you can change by altering your lifestyle.
I have a follow up appointment next month. After this if I wish to and they are reassured that I have considered and understood all of the information, I can have genetic testing in the form of a blood test.
I completely understand the worry. I sometimes have ailments through stress and my mind automatically rushes to “is this the start of MND”? There is a lot to think about with testing which is why the process is long-winded because they want to ensure you don’t rush in to a decision to have it. The consultant said to me there are instances where the results may be positive but you may carry the gene and never develop it. There is also the matter of even if you test positive for any gene, there may be a cure within our lifetime or at least more treatments available. You run the risk of spending a lifetime worrying when it could be for nothing. So there’s a heck of a lot to think about. I hope this information is helpful.

[Vicky86]

Thank you @mothersdaughter I really appreciate this.

I hope you don’t mind me asking but did your mum have a confirmed genetic form before you have gone for testing? I’m wondering if there’s a way to find out if im eligible for testing without having to go through all the counselling etc first?

also what area are you in and what was the waiting list like following your gp referral?

[Vicky86]

I’m wondering if the fact my dad didn’t get tested will mean I’m not eligible for testing as that’s what I was told initially years ago

[Vicky86]

I’m also so sorry about your mum I know how tough it is 💕🤗

[JamesW]

Hi Vicky,

I went through genetic counselling and then testing when I was diagnosed as my mum had passed away from MND some six years prior 😔. There is a counselling process because of the enormous gravity of the news for yourself and the family should there be found to be a genetic link. We went through our family history and because my mum did not know who her father was (my Gran was very generous when entertaining some Canadian airmen in the war apparently) then we were considered as appropriate candidates for testing.

I had two tests, the first was for the SOD gene because that is the most common but when that came back negative we were tested for all of the others together. These results also came back negative and I was then invited onto the national 100,000 Genome project because the situation of me and mum having MND without a genetic link is extremely rare (they wanted to see if there was an unknown gene at play).

The genetic research also thankfully came back negative which basically means that both my mum and I are extremely unlucky people and both developed sporadic MND. Please do not ask me for any lottery numbers or betting tips 😬

I am no expert on eligibility, but as I understand it they will not undertake genetic testing unless they suspect that there is possibility of a familial link. That is to say that you can identify in your recent family history other family members that have had MND or FTD. Indeed, my sister tried to undertake genetic testing for herself whilst I was in the process of mine but she was flatly refused because of the at that point inconclusive link between me and mum. She would’ve only been allowed testing if I had been found positive.

This is only my experience and I hope it makes sense xx

[Mymothersdaughter]

Thank you Vicky86. I’m sending you comfort for your dad x there was no time for genetic testing for my mum and to be honest it never crossed our minds, nor was it a priority at that stage. From mum’s symptoms, they can make an educated guess as to what type of MND she had.
My lovely mum’s condition progressed rapidly. She was in hospital for 3 months where she was diagnosed, then home for 3 receiving palliative care until she died there, as per her wishes. As I understand it, you should be eligible for genetic counselling as it was your parent who had MND. Don’t be afraid to push or ask for a second opinion if you are refused. Medical professionals are great but they don’t know everything and can make mistakes too, which may be the case if they’ve said you’re not eligible before. It wasn’t even offered to me. I researched and then outright asked the consultant treating my mum and then the GP. Sometimes you have to do the legwork.
I don’t think there is anyway of bypassing the counselling part, if they are doing it responsibly. Counselling and testing go hand in hand. I can’t emphasise to you how much of a big step it is to be tested, given the potential results and the nature of MND. I wanted to rush through and just be tested and get the results but it really is in your best interests to have the ‘counselling’ part of it first. It isn’t counselling how we think of it either. Not a talking therapy with months of sessions; they want to give you all of the information first and ask you what you understand about the process and why you want to do it. You do need to be properly prepared mentally before you consider or undertake any testing. I found the information they gave me useful and food for thought but didn’t feel inundated with too much.
I’m in the south east and it was surprisingly quick. I asked the GP to refer me not long before my mum died (not realising this at the time of course) because I thought I may as well get on the waiting list, thinking it would be ages before I was seen. My first appointment was at one of the University College hospitals in London later on in August. My second is next month. They leave a bit of a gap for you to think things through (deliberately I believe). It’s important for me to have that too, as it’s so raw for me and I don’t want to rush my decision.

[MMG]

My husband was offered DNA testing at his first specialist MND clinic appointment. They explained that they wanted to do the test from a research perspective.

We didn't want to know the result as he couldn't bear that he had potentially passed a death sentence onto his sons. I didn't want to know what could come later in their lives, and didn't want them to know as it could change the way they lived their lives.

So the test was done, and we asked for it to noted that should a "cure" be found, or effective treatment discovered, that at that point, if it was hereditary that our sons would be notified and early treatment provided.

I often wonder what the results were, we hope that it was sporadic rather than genetic, and will obviously worry forever, but don't think I could cope with knowing the worst. Seeing someone you love go through this once is bad enough.

It is a very emotive decision.

xx

[Arcadian]

Genetic testing between relatives and how the information is interpreted and shared, raises some challenging ethical and moral questions in a general context, as well as specific potential psychological and practical impacts with MND (familial or sporadic) and other hereditary illness risks, combined with how we interpret and process that information.

My Father has 40+ years of neuromuscular problems, but for other more acute health reasons, initial EMG, NC, muscle biopsy tests never went on to a formal diagnosis (Parkinsons and MS were the main line of enquiry, but initial interpretation from tests were that his neurones not connecting properly and muscles not relaxing properly).
Decades later he has foot drop, muscle weakness and atrophy and other physical symptoms similar to myself.

As he had no formal neurological diagnosis from back then, my understanding is that I'm ineligible for familial genetic testing in these circumstances under present policies in England.

I'm mindful that with heritable conditions, the offspring can also present with an illness sometimes years before the parent.

On a tangent, 20th Century history - with 2 world wars, and other early parental death from eg. industrial injury fatalities, the rise of the motor car and accidents, combined with social 'lifestyle' changes from the 1960s as to how folk live together - we end up with a 'gap' in the confidence of genetic pathways that can impact on interpretation of statistical probability and risk.
(One of the MND guide books has a straightforward diagram highlighting such aspects in families).

The personal experiences and outlooks of contributors further up this thread, really highlight the challenges that MND poses and the additional concern folk have to carry when considering additional family concerns.

As I have no children, I'm quite happy to know my genetic risk profile, particularly if it indicates a direction of travel or other complications to my present ones, as well as shared research value to teams working on such issues.
(As a diagnostic tool, we can already see that some illnesses have risk clusters in particular genetic profiles - eg. people with x, may also often have y & z).

My elderly father is happy to participate in testing, as he feels it 'helps' in the bigger picture.
(I'm mindful other people my process linked genetic data more negatively and personally).

[Vicky86]

Thanks all I appreciate the input

im still v confused about eligibility and how it works - I’ve read this guidance but doesn’t make it clearer re mnd https://www.england.nhs.uk/wp-conten...riteria-v4.pdf

wondering if it’s the nhs won’t say I’m eligible because my dad wasn’t tested and whether I could go privately for testing instead.

mymothersdaughter - is your testing via the nhs?

[Aadam]

Hi Vicky86, My Father was diagnosed early last year and we were never offered a genetic test on NHS. Luckily my Dad has BUPA private health insurance hence we used their services whilst going through the diagnostic process where we also had the genetic test done. It took about a month to get the results and we did the test in Harley Street at the Physicians clinic organised by the neurologist. For information the test cost £1000 but was covered by our insurance. Hope this helps as I am not sure if NHS will provide it.