Whats the point of diagnosis?

Can someone please explain the benefits of diagnosis of attaxia and it's specific type or cause?

I am confused as husband seems to have many symptoms going back many years but wobbliness and fatigue have got seriously worse he has heart issues gastro problems just developing. He isn't able to work at moment and struggling to get work to understand implications as we don't really understand and are overwhelmed with it all

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  • Totally understand your confusion I myself is very confused with the whole condition,was diagnosed 2years ago and same as your husband i have also had to give up work,my mobility along with tremors are getting worse,gastric problems,headaches and dizziness are a problem.It also is affecting my mental health,my heart goes out to you and your husband.

  • Thanks for your post Claire sorry you had to give up work! Not surprising your mental health is suffering it's a lot to deal with. we have only been dealing with it since last year but only was told attaxia in may this year but don't know what sort and what all the implications are for work. it's distressing as a partner to see him just sit there as he is too wiped out to do anything when he was working just a few months ago. But I guess you know all about that :( are you getting any emotional support? Not sure my hubby is ready to talk about it yet which is difficult to deal with. let's hope we all find a way through

  • Thanks for your post Claire sorry you had to give up work! Not surprising your mental health is suffering it's a lot to deal with. we have only been dealing with it since last year but only was told attaxia in may this year but don't know what sort and what all the implications are for work. it's distressing as a partner to see him just sit there as he is too wiped out to do anything when he was working just a few months ago. But I guess you know all about that :( are you getting any emotional support? Not sure my hubby is ready to talk about it yet which is difficult to deal with. let's hope we all find a way through

  • My friend with ataxia , diagnosed 9 years ago says the main benefit of the actual diagnosis was getting to see Dr H and co. especially DF at Sheffield. Can never overestimate their help, eternally grateful. She was able to carry on working for some time but eventually had to give up her job that she loved which was incredibly upsetting. The Sheffield appointment at this time was emotional but particularly helpful. Came away feeling understood, supported and having a whole package of practical health support being organised for her. This included speech therapy appts, physio appts. They also arranged sessions with a local emotional well being centre. The latter she never wanted to go to but turned out to be the best thing that could have been done. I'm not suggesting any of this was or is easy, it's taken years for her to try and accept the diagnosis and continued massive effort to fight back in any way she can. Through all this time the continued visits to Sheffield (plus phone calls) have been a brilliant support. She still doesn't know her specific type btw.

    The diagnosis can help to show you are not making things up and that you're not alone. In practical terms when it comes to end of work arrangements, financial arrangements etc it is vital. The documentation involved in this was/is unbelievable. I am no expert but was in a position able to be able to help with this but dread to think how anyone with her symptoms could manage all that on their own.

    Ataxia UK has been another great source of help and advice, as has this forum - thank goodness for the Internet!

    Allow yourself time, it's far from easy but it is what it is so you just get on and help each other is the way we try to deal with it.

    All the best x

  • thanks TedTom we are going to see the neurologist friday so i will ask him to refer us to an attaxia centre, if he doesnt i will talk to our GP who said she would - thanks its helpful to hear the positive comments about referral!

  • Hello, my husband finished work before retirement age due to ataxia. He has suffered for about 20 years now and is getting worse. He also has other health problems to contend with. There is no treatment so he has to just get on with it!!

    we have received no help at all! He frequently falls over and can't get back up.

    so I know how you must be feeling, I feel that we have been left to suffer this on our own with out any medical help at all! All I can do is wish you luck and suggest that your husband perhaps takes early retirement.

    regards Kazkaz

  • you have been very unfortunate, starting with my g.p. referral to a neurologist and subsequent hospital stay for diagnosis then occupational therapist who supplied all necessary aids to keep me mobile,started physio last week which I hope will be beneficial. please ask for assistance the help is out there Good luck

  • Hi Kazkaz so sorry to hear your experience I heard from attaxia UK via this site the other day and they said if your GP or Neurologist wont refer you that you should let them know. Our GP is helpful not sure about our neurologist but i would ask one of them to refer your husband and if no joy ring attaxia UK that was what they advised i do anyway so assume the advice would be the same for you. My husband is nowhere near as bad as yours and i know how we are struggling (he has lots of other health issues too but most of them related to Attaxia as far as i can make out, heart, eye, gastro issues, feet). I think he will go for early retirement but not sure how we go about it at the moment to make sure we get the best help from the company, but we will find a way through, hopefully you will too if you contact attaxia UK for some support. The local council should also have help for carers to support you, you should ask your social services for a carers assessment and an occupational health assessment so that you can get some support. Its not easy we are in the middle of it all and its a bit overwhelming but just keep asking til you get the support you need.

  • I know how you feel Kazkaz. My neurologist arranges an appointment for me to see him annually but I have only ever seen him about three times, all other appointments are with a Registrar (a different one each year). I have seen a Doctor from Oxford Clinic and had a blood test but they are unable to find the specific type. Each time I go for my annual appointment they say they will write to the Oxford clinic to chase matters but I never hear anything.

    I have come to terms with the fact that I go for the annual appointment, tell them of any changes and just get told they will see me in a year's time. I have had a couple of nasty falls, the latest one this weekend which saw me in A&E and having stitches to a head wound. When I said I had cerebellar ataxia I was asked to explain what it was.

  • Thanks for your reply. My husband and his brother used to go to London for research but they were unable to isolate the gene that was causing the problem. but no offer of any treatment. Our GP has never heard of cerebella ataxia either ! I wish you well. My husband has been lucky he falls over but as yet has not injured himself. Take care.

  • hi Kazkaz im having same problems cant walk talk feet painfull the list goes on i also have epilepsy ot promised me a powered one then when it came to delivery she hadnt told them about fits so no wheelchair wife at work no mobility .whent to see dr marios at sheffield and things now looking up but youve got to fight for everything most Gps know little about it by now you will probably know more ring the nurses at sheffield halamshire people listen to them all the best Guy

  • thanks for your reply. Will try Sheffield. All the best to you. Take care

  • I also asked my GP to refer me to the sheffield hospital and have atteneded one appointment but it was a positive experiance and seeing an Ataxia nurse was so good as it was nice to speak to someone and ask questions with someone who understsands.Would totally recommend ask your GP to refer you to a specialist Ataxia Clinic as you have to be reffered by your GP.I am lucky got an amazing partner (like your husband,having you) it is hard for him many a time he has a little cry,an awful condition affects the whole family feel so much for my kids.

    Stay strong xx

  • cheers, thank you will try Sheffield.

  • Hi ranking 1St,

    Have you been told what type of ataxia your husband has? This would be useful in looking at the ongoing management of the condition. The health profession is not great in doing anything after diagnosis unless you are in an area with a neurologist or genetic service delivery experienced in ataxia. The more you understand the more questions you can ask - you as a family will need to take control of the management of those condition if you are going to find ways to deal with it. Medicine does not have the answer but a diagnosis is a good start to help you plan the way forward.

    Good luck!

  • Thanks Cuds, thats sound advice which i will take Friday when we see the Neurologist if he doesnt refer i will speak to our GP Monday who is very supportive.

    No diagnosis of type of Attaxia Neurologist says he thinks that Attaxia is secondary to husbands epilepsy medication but I am not convinced when I tried to bring it up with Neurologist he said 'what would be the benefit of getting tested for Attaxia?' He also said during the same consultation 'I haven't got time for all this' but in his defense he did say he would look at it again!

    I have asked my husband lots of questions since as i was so incensed by neurologists approach, i wanted to know more. He had balance issues as a child long before the epilepsy occurred, took forever to learn to ride a bike, he has always had a wide gait, and has had difficulty running (looks odd) has very very thin legs, had specialist referral as a child as couldn't learn to read found out it was because words used to move around and change shape on the page, he has sensory issues with taste as a child and into adulthood, he was born with congenital heart defect, and he has very mild claw toe (strange shaped feet) and has developed chronic tendinitis recently along with hernia and gastro problems. He has eye problems - retina and optic disc pit and some more. His dad has all of the above plus was born with chronic pes cavas and had to have multiple surgeries as a child, his dad has been diagnosed with vertigo and hypotension I think (he gets giddy when standing up his BP drops through the floor) has irregular heart rhythm, chronic headaches and recently loud whooshing noises in his head and becomes confused and disorientated, so I am not sure its not attaxia undiagnosed. Which is why I am asking lots of questions about benefits of diagnosis. mmm as i write this i just think really secondary to medication? Anyway you have all encouraged me to get a second opinion - thanks

  • Hi, having a diagnosis is beneficial for many reasons: it helps work to understand because there is now a lable, it unlocks all sorts of benefits that you can apply for such as ESA (have you applied for PIP which is not means tested and can be applied for any time?, SALT, urologists, Parkinson's nurses etc. It also provides a certain peace of mind, at least you know what it is and can now get on with managing life with the condition. I agree with what Claire and TedTom have said, having access to Sheffield or any of the other specialist Ataxia centres is really beneficial, I can't recommend them enough. Good luck to you both and stay positive. I have MSA btw.

  • Hi Coxy, thanks we have PIP assessment in the morning!!! They are coming to the house. I am worried that they will say it is secondary to his medication therefore if they changed his epilepsy meds there wouldnt be a problem. yet neuro said running out of options for med change due to Andys other conditions, not really sure how to deal with that? Especially as diagnosis isnt confirmed of type of Attaxia, but hey i suppose we could always appeal if they reject him. But any advice you have would be appreciated.

  • Hi Rankin,

    the person I first saw (who was clearly not medically trained and instead was a box ticker) from ATOS for my PIP application only gave me a standard rate for living and nothing for mobility. We asked for a Mandatory Reconsideration and got it increased to enhanced for living and basic for mobility. It was worth a lot to us as I knew my condition was about to force my retirement.

    It is a points based system and you have to score a certain number of points overall. There are lots of websites describing how they score it. There has been a lot of bad press on the way it is handled that an appeal is almost always successful, You MUST describe life on the worst day, not the best. Good luck tomorrow

  • Hi,

    hope all went well with the PIP assessment. You need to know that the assessors are pushed to get assessments done in a timely way and often only have 1/2 hour before seeing someone to look up the conditions. As your husband has symptoms and not an identified condition for the symptoms they may struggle. The key issues they should look at are those you identified in the form. They will scrutinise everything as their aim is to save money - harsh but true! They will lower a score if they think someone can do something with an aid to daily living (e.g. toilet seat or sock gutter). When the person doing the assessment has finished they will write a report - which you are entitled to request a copy of. The assessor will be a clinician - Occupational Therapist, Physiotherapist, Nurse or Paramedic - but the person who receives the report and makes the decision is not. So if you are unhappy with their interpretation of the clinicians assessment then you should appeal. There are a number of people (citizen's advice etc.) who help people appeal.....and you wouldn't be the first to do so! If you do need to appeal the key is to focus on 'the majority of the time', 'doing things in a safe manner' and doing things ' in a timely way'. Good luck!

  • Hi Coxy,

    thanks for that. the assessor seemed nice she was a paramedic and was helpful seemed to be supportive but obviously we will see. Just have to wait for the DWP decision now, your advice was helpful!

  • I also had an assessment for PIP earlier this week. My assessor (a mental health and disability person) had never heard of F.A. and hadn't done any research before my appointment -" I don't have have wifi here, so will look it up later before I do my report" - so all her questions were based on someone asking who had no idea what my problems were! I don't hold out much hope, but I will wait and see.

  • Hi tiggy let's hope they do there homework now you've educated them and hope it's successful. As previously mentioned if they reject your claim you can always go to citizens advice so they can help you with the appeal but Hopefully it won't be necessary!

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