Genetic counselling

[Mymothersdaughter]

Following my mum’s diagnosis of MND (there seem to be many different types but we haven’t been expressly told which it is she has) in February 2022, I enquired whether there were tests that could be done to ascertain my chances of having MND. I’ve been told there is something called genetic counselling and I have decided to proceed with it. Does anyone have any experience of this they can share with me please? I understand it entails counselling before proceeding with any (blood?) tests and then subsequently, results are discussed.

[Jen70400]

Was it your mother’s neurologist who suggested this? Or have you asked them? The process is easier if your mother has been tested so you know if there is a known mutation to test you for. If there isn’t it still might be helpful to discuss risk with a counselor but the conversation would be different.

my family is FALS and we have the C9orf72 mutation. Three of my asymptomatic cousins have gone through counseling under the nhs. All were several years ago. They had an appointment to discuss things ( and were asked to bring to the appointment a copy of a test on a family member showing c9 - I know because they all asked me). They were then given an appointment a month later to have a blood test. Only one did that and he then needed a third appointment to get the result. The waiting period for asymptomatic potential carriers was mandatory. Hope this helps

[Mymothersdaughter]

Jen70400 Thanks for your informative reply. It was me who asked the MND team at the hospital whether I can be tested. Would it be through a blood test that mum would be diagnosed as to which type? She had many tests prior to diagnosis so it’s worth me asking whether they have this information on file already. When you say asymptomatic carriers, how do you know you’re asymptomatic and not that you’re carrying the genetic mutation and will end up developing MND later down the line? I wonder why the waiting time is mandatory. Is it to give you time to process the situation in case you change your mind about getting the results?

[Jen70400]

Asymptomatic means no symptoms. None of my cousins had symptoms. All were potential carriers because they had affected parents. The parents died before testing for our mutation was available but since it was identified in the family it is assumed they had the mutation. My cousin who chose to test does in fact carry C9orf72 but he had and has no symptoms so he is an asymptomatic carrier at this time.

i believe the waiting period is to give time to consider yes. My cousin who tested asked for it to be waived. He is a nurse and had thoroughly researched and considered it but they told him it was mandatory.

i would definitely ask whether your mother was tested.

[Mymothersdaughter]

Jen70400 Thank you. I understand that asymptomatic means no symptoms but find it interesting it’s referred to as this, I suppose because I strongly associate that term with Covid nowadays! It makes sense though. I appreciate you taking the time to share this with me. Thanks again,