Genes

[Lynne K]

Hi all. I went to my 12 weekly MND clinic at Salford today. I saw Amina Chaouch and one of the specialist nurses (Samantha Holden-Smith) . They told me the results of my genetic testing. I'm positive for a fault in C9ORF72 an inhereted gene mistake.

I have 4 children, 8 grandchildren, and one great grandchild.

Sam's going to set up genetic counselling for me and she asked if she could come along. I agreed.

I guess that some difficult conversations are going to be had with my blood relatives some time soon.

I'm worried about telling my youngest because she's in her first year at Uni as a mature student. She has 3 kids between 3 and 8 years old. This could cause her so much worry that it would effect her studies.

Then there's all of the others. I'll have to make a family tree with contact details before I go to the genetic Councillor.

Has anybody else been told that they have this gene fault. I believe frontal lobe dementia sometimes happens at the same time. That's a worry. My paternal grandmother and paternal aunt died from dementia and my paternal grandfather who died when my dad was about 13 was in a wheelchair. My paternal grandmother and grandfather were obviously not blood relatives. So I'm wondering whether it's just my paternal grandmothers side that the faulty gene came from. Or, could they (meaning my paternal grandfather's side too) both have had it.

Lynne

[johnburton]

I am in a similar position with the C9orf72 faulty gene and was diagnosed with MND last March. My mother died of MND about 30 years ago. I am the eldest of six siblings, some of whom have children and grandchildren. We are keeping everyone informed, but I am taking care how I present the risks. Only one of my siblings has chosen so far to be tested for the faulty gene and we await the result.

[Ellie]

Hi Lynne,

I just cannot imagine the turmoil you're going through right now, I am really sorry you got this news.

I am glad Sam is going to the Counsellor with you - 2 heads are better than 1.

The only positive thing is that great strides have been made in understanding the C9orf72 mutation in ALS and there is a clinical trial in the US for a treatment specifically targeting the C9 gene (BIIB078) and it's thought that, of all forms of ALS, the C9 familial mutation will be the first to get an effective treatment.

The C9orf72 mutation is the most common inherited genetic MND, and yes, as you say, is also involved in FTD. Not everyone with the gene mutation will go on to develop MND or FTD, the genetic counsellor will provide you with the info so you can discuss it with your family.

You've had such a rough time lately Lynne, I hope you can stay strong.

Big, big hug.

Love Ellie.

[Kayleigh]

Hi Lynne,

I am sorry to hear that you have received such upsetting news.

Hopefully, you and your family can take some comfort from knowing about the progress that has already been made regarding medical research/trials, as detailed by Ellie in her post.

I can understand why you are concerned about telling your family, especially your youngest daughter. It might be the case that not all of your children will want to know what your result is. Some people are of the opinion that there is no point in worrying unnecessarily about a disease that they might or might not get, and that they can do nothing about.

It is good to hear that counselling is in place for you, and that counselling will also be available for any members of your family who would like it.

Thinking of you,

Love Kayleigh x

[Lynne K]

Thanks Kayleigh. I haven't told anybody yet. Only my husband knows because he was with me when I was told. Lynne x

[Lynne K]

Thanks John. Have you been for genetic counselling? If so, how did it go and did it help? Lynne

[Lynne K]

Thanks Ellie. I went to read MND information and then the research that the MND Association is funding. There are many useful research projects going on of all kinds. As you say there are several going on involving the C9ORF72 gene, RNA and other links in the desease chain. So hopefully breakthroughs will come soon. A lot of the research project finish in about eighteen months but some are 3 and 4 years. Hopefully trials can be fast tracked if anything promising is found. Lynne x

[Lynne K]

I'm one of 4 siblings John. I've said how many kids, grandchildren and one great grandchild that I have. My elder sister has 9 kids and lots of grandchildren, one of my brothers have 2 kids, and the other brother none. I will have to do a family tree. Lynne

[johnburton]

Hi Lynne, I've not had any genetic counselling, but it's irrelevant to me, being already diagnosed with MND. Four of my siblings are visiting the John Radcliffe later this month to be talked to as part of their research work. They will probably all give blood afterwards, but won't be told the result.

If any of them in this country decide they want to know if the have the faulty C9 gene, I understand that they'll need to have genetic counselling first.
John

[Lynne K]

Thanks for getting back to me John. Lynne