Genetic Testing

My husband has been genetic tested and the results take about 9 months to come back I am worried sick as we have a daughter. I haven't discussed it really as I feel I need to wait for results. Has anyone else experienced this. He has CBD and FTD as well as PSP. I worry because the little that I have read up on it tells me that it can come on 10 years earlier in the person it is passed on to. Surely God wouldn't do this to my family as once is horrendous enough.

[Zerachiel]

Hi

The current thinking is that PSP is not inherited although it is something that is still being researched. The NHS website states:

"The condition has been linked to changes in certain genes, but these genetic faults aren't inherited and the risk to other family members, including the children or siblings of someone with PSP, is very low."

There is some data to suggest that environmental influences may have an effect as there are some areas where PSP is more prevalent, but again it is still being researched.

At the moment you have one fact, your husband needs all the support you and your family can give him; none of you will benefit from worrying about possibly maybes. Try to make the best of now, make memories and let the future look after itself.

Best wishes 🫂

[Hidden in reply to Zerachiel]

Thank you for your reply and of course we make the most of every moment with my ex husband. As a mum and knowing that a previous family member passed away with a similar disease it makes it all the more concerning.

[daddyt]

I wouldn't be too concerned about a genetic component. PSP is familial in less than 5% of diagnosed cases, as is CBD. FTD is an umbrella term for frontotemporal disorders like PSP, CBD-CBS, MSA, LBD or DLB. These are all dementias. Any neurodegenerative disease that affects memory, thinking and one's abilities to perform daily activities is. This dementia is known also as executive function dementia. It does not affect one's intellect. There is frontotemporal dementia (proper) with a behavioural variant and without a movement disorder. LBD - Lewybody dementia is listed behind Alzheimer's as an aggressive dementia.

Zerachiel's advice in the last paragraph of her response is invaluable. Lastly, take HOPE in the fact that research is closer to finding a treatment that may slow down or even stop disease progression. Much closer than when I was diagnosed with FTD, PSP with overlapping CBD symptoms ten years ago. Hope matters.

Tim

[Hidden in reply to daddyt]

Thank you for replying to my post. Although my ex husband is on the PSP CBD spectrum it's atypical and more a Mills-like presentation of Motor neurone disease. They have done genetic testing for him. As a mum I can't help but worry.

[pspchronicles in reply to Hidden]

And you should. As one member on this forum says... PSP - Please Stay Positive. It isn't easy trying to navigate around any of these insidious diseases, especially when symptoms overlap.

Hoping for the best,

Tim

[Kelmisty]

I didn’t know there was any genetic testing available? My Mum has PSP & CBD.

To be honest I don’t want to know, as it would be like having a ticking timebomb. You need to live your life while you’re young enough and can, I could be struck down with something else. There’s no guarantees.

[Sun-flowerwearer]

As PSP/CBD is so rare it also doesn’t attract the money for research that other more prevalent diseases attract. At the moment in the Uk researchers have not found a genetic link so far. My husbands neurologist asked if we wanted to do genetic testing at diagnosis stage. I said NO as really don’t need my children worrying for the rest of their lives when in the same conversation the neurologist is saying they haven’t found a link.

[Blacklabmum]

my husband has CBD and familial behavioural variant FTD. Unfortunately his FTD is genetic, it is very rare, his neurologist tested him as a tick box exercise but sadly his is due to a gene mutation. We have seen the geneticist who was very informative. Sadly he has three grown up children and 7 grandchildren. Only one of his children wants to be tested the others don’t and the geneticist actually said even though it’s a personal decision he wouldn’t get tested. The children have a 50% chance of having the faulty GNR mutation. You will have plenty of chance to discuss things if and I hope it doesn’t your husbands test comes back positive. If he tests negative as I understand it your daughter will not inherit the FTD. As others have said try to stay positive, I know this is hard , take each day and situation as it comes. Continue to enjoy the times you have now, it’s something you have no control over, enjoy the here and now try not to waste precious time on what may not be. Sending strength and hope to you xx