Update

[Loubie82]

I went to my genetics appointment apparently I have a rare gene what is connected to type 6 but its one they don't know much about. Did a family tree and with no one else in the family with symptoms it's likely started with me so possibility of my children getting it as well. Was wanting to test my parents to see if they have the same gene but have said its doubtful cause they show know symptoms and are both. Healthy.

[wobblybee]

Hi Loubie😊

I was told that my Ataxia is Autosomal Recessive. Neither one of my parents were affected themselves but they each carried a mutant gene. My brother is ok. 😊xB

[wibblywobbly]

Welcome to the club of the unknown gene! I think there's many of us.

Doesn't change much really - means we don't know what may come later, maybe it's better that way 😉

[Pec2884]

Very interesting Loubie. How long did it take to get your test results. Very expensive or NHS. I have a 3 month check in March and I am going to ask for genetic testing as well but in SA so not sure if they will agree.

[Loubie82 in reply to Pec2884]

Pec 2884 my neurologist decided to send my blood for genetic testing my symptoms started getting worse and lasting for longer periods. I waited about 2/3 months for my results x

[berejena]

I'm in the unknown gene club, life is a mystery.

Berejena

[Jim95]

My mum got told by Glasgow Royal infirmary that she had ms in the 1960s she got a mri scan years ago in the Glasgow southern general hospital and was told that she hasn't got ms but she has the same thing as me I got told by Newcastle victoria hospital by a professor chimney that he knows what is wrong but he didn't tell me at that time then I got told to go down to Newcastle and the he told me that I have Ataxia I am on 5x100 Q10 and 2x reholflavin i don't think they work I then found out my mums auntie walked the same as me but wasn't diagnose with anything.

[LauraH1990]

I was diagnosed with a rare genetic type of Ataxia. I cant remember the name of the gene that is affected. They established that one of the copies of that particular gene wasnt present but they wanted to find out what happened to the other copy of the faulty gene so they tested both my parents.

[february]

Dear Loubie82, I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause, symptoms 24/7) eleven years ago. No one in my family, as far back as we know, has/had ataxia except me. I've had recessive and limited dominent genetic testing for the known ataxia's, which was negative. My neurologist is suspecting a type of recessive ataxia (ARSACS - Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay) that only shows up with genetic "genome" testing, which I am hoping to have. My parents were not effected, as each only would have carried one mutant gene and would be asymptomatic. My two adult children would be carriers, unless their dad (deceased) had a mutant gene, which is highly unlikely (it would take a mutant gene from me and one from their dad to affect one or both our children). Apparently, there's a 25% (?) chance of each child either being affected, being a carrier, or neither (there were four children in my family and I am the only one affected, so far. All my siblings are in their 50's and 60's. I'm 61 and started showing very minor symptoms at 42, eight years before my official diagnosis, at 49. Therefore, I think it's highly unlikely that they will be affected). If I do have this type of ataxia, it can skip several generations, due to the off-chance of two people marrying, each with a mutant gene. Although there's no cure, it would give me some peace of mind to know "why" I have ataxia, as I've always wondered...,;o)

[Barn]

Hi Loubie82

I also have SCA-6 and it should have been inherited from one of my folks but they both tested negative. My brother is also clear. So what I have is a spontaneously mutated gene, unique to me, but there's a 50% chance of passing it on to my kids - if I had any! I was diagnosed at the age of 33, just as me and my wife were thinking of having kids. I took the executive decision not to have any after that because the risk was too high. Suffice it to say my marriage broke down not long after!

Barn

[Loubie82]

I'm sorry to hear that barn. My parents have decided not to be tested as they say it doesn't really do anything for me and it also goes on there medical records which they don't want. As you can imagine bit upset but its there decision. I also have chance of passing on to my 2 children just hoping they are more there dad than me x