Oxford's Neurogenetics Clinic

[RN12120]

Hi there, to cut a long story cut extremely short, my mother (55 years old) has been under Neurology since November 2018 and was found to have "severe and significant cerebellar atrophy". Her diagnosis is pending, but it is extremely likely she has an Ataxia of some description (AFTER 2 years of being fobbed off by Psychiatrists telling us she was just "depressed"). She has had four Neurology reviews since Nov 2018 with lots of bloods, lumbar punctures, scans (you name it) at the JR and has now been referred to a Dr Tofaris. We have the Neurogenetics appointment with this consultant this coming December. Am I correct in thinking this is the "Ataxia" clinic that I have been reading so much about? I'm sorry if I sound naive, it's just that communication up until this point hasn't been very well received and she hasn't always seen the same Neurologist every time. Any advice, what to expect or what to ask would be greatly appreciated. Many thanks for your help in advance!

[Pineapple12]

Hi RN12120

I was referred to Dr Tofais as an expert in ataxia by my neurologist, after 2 years, and was diagnosed with SPG7 through gene blood test which was requested by Dr Tofais. Any information and questions I had he answered and I am able to email him. I hope you start getting more information

[RN12120 in reply to Pineapple12]

Hi Pineapple12, thanks for your reply -Good to know. I haven’t even heard of SPG7 ! My mum has had an SCA panel, Huntington’s, Alzheimer’s, DRPLA dome which have all returned negative. We are really hoping to find a cause / responsible gene for her ataxia as the Neurologist remains convinced it now must be hereditary. That in itself opens up a can of worms. Has your family been offered genetic testing at all following your finding ?

[suzie44na]

Hi RN12120, I too was fobbed off for years, doctors saying it was my mental health. I am waiting for my results from Sheffield. They are the best specialists I have ever seen. I have waited 23 years for a proper diagnosis, so I am hoping to get one soon. It is best to take a full list of symptoms with you, my specialist found this really helpful. Hope your mother gets answers soon.

Best wishes

Suzie

[RN12120 in reply to suzie44na]

Hi Suzie, I’ve been reading up about how much ataxia is often mis-diagnosed with a mental health condition such as depression, anxiety or personality disorder ! - Even when I very vocally argued with the Psychiatrist and challenged his depression diagnosis, I was abruptly dismissed and was told that my Mother definitely had a simple depression and that her ‘memory issue’ was as a result of this and not any cognitive impairment or dysfunction! She was discharged after only seeing him the once. Clearly he had no interest and wanted her off of his books ASAP. Shocking really, he will be getting a letter as soon as we receive a formal diagnosis. 23 years ? Wow that’s an awfully long time. I hope you get your answers soon. I will take your advice and write down her symptoms. Thanks !

[Sammy418]

Hi my husband is being seen by the same consultant at the JR. We have been going there for a few years now, my husband has friedreichs ataxia.

I do hope they find the answers you are looking for your mum.

They do deal with quite a few neurological conditions in Dr Tofairs clinic.

All the best

[RN12120 in reply to Sammy418]

Hi Sammy, that’s good to know as I googled Dr Tofaris and see his research and interests lie with Parkinson’s and Alzheimer’s / Dementia. No mention of ataxia (apart from his named Ataxia clinic). Does your husband get seen in the ‘Neurogenetic’ clinic or is his appointments at the named ataxia clinic ? I’m trying to work out whether this is the same thing. Do you have any advice on what we should

expect for this first appointment with him ? Eg appointment length, whether he runs on time, what we should ask (etc). No-one has been able to explain really what’s going on and maybe thats because they don’t yet have the answers. I’ve done a fair amount of research and got hold of her results (after pressing her GP for it) , so have a basic understanding but this hasn’t been discussed with us and I am not sure why we have been referred to him when we have been under two other Neurologists up until this point.

[Sammy418]

Hi, we did research with Dr Nemis, she is great, her job is ataxia research. We went to see Dr Tofaris under his ataxia clinic,as my husband was experiencing a lot of spams and pain. To be honest he did really no why this was happening but has given my husband some different tablets to try. there is not a lot they can do for my husband as there is no cure for his condition but he has had it for the past25 years.

But there is blood tests they can do that will show if it’s freidrichs ataxia, but there are also a lot of different ataxia’s too. In my experience they most have some idea of what they are looking at to have your mum transferred to another neurologist. The JR has been brilliant with my husband, you can also contact Ataxia Uk, they will offer a lot of help and support.

If you haven’t been to the JR before just be aware that the parking can be difficult, we have has to queue for about half an hour to find a parking space. The appointments do run to time most of the time, you could be there awhile depending on what tests they may do.

I do hope you find the answers to your mums condition.

All the best

[RN12120]

Hi Sammy, thanks for your reply. We have been the the JR many times - we are lucky that we live in Oxford so access is very easy for us as we don’t have to travel too far at all, despite this we always leave extra early because car parking and roadworks in Headington are always a disaster. We’re just keeping our fingers crossed that we can get a diagnosis and find out what really is wrong soon.