Blood tests negative - now what?

Blood tests negative - now what?

My neurologist telephoned me yesterday with the news that the Ataxia genetic blood tests had finally come back after a three month wait, and that the results were negative for the common types of SCA.

I had really been looking forward to the results with the expectation that somehow I would know a little more about what is going on and that it would help me to cope a little better with the recent Ataxia diagnosis. It's almost as if Christmas has come and gone with no presents. I am now feeling a little lost and don't know what to expect next..

The hardest thing for me about being diagnosed with Ataxia has been the lack of adequate support I have had (or not had...) Also, almost all of the medical professionals I have dealt with have little or no experience of Ataxia, and while they have been friendly and have tried to help, I have felt they were doing too much guessing or presenting me with treatments appropriate for other conditions and not necessarily the right ones for my Ataxia. All of this has left me feeling quite vulnerable. I had really been hoping that the blood tests would at the very least give a pointer to what my future might hold.

All my life up to now I have more or less known what was going on and where I was going, but not any more. I now feel a little like the proverbial canoeist up a creek without a paddle, except that I also have no idea which way to go. And then, filled with trepidation about what I'll find when I get there - wherever that might be.

Apparently some people have been waiting for years to find out what caused their Ataxia so perhaps I shouldn't have been expecting much. What has your experience been? How long did you have to wait to find out, and do you have any suggestions for me?

13 Replies

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  • Dear Wyndham,

    I read your post and it was like reading something I had written. :-) I was diagnosed with late-onset Cerebellar Ataxia in 2002 (I am now 61) and have to give up a good career. I have seen 2 different Consultants over the past 10 years. The first was hopeless and put my symptoms down to my lifestyle: constant global travelling in my job, 'excessive' - his words - drink and rich food and not enough exercise! When I pointed out that I went to the gym 3 times a week, played tennis, rode horses and my Winter holidays were 2-weeks ski-ing he shut up, Needless to say, I was not impressed and came away totally demoralised.

    Two years ago, I saw a much different 'animal' who was not impressed (an understatement) with the previous Consultant's report and thought my Ataxia could have been inherited - my late Dad had balance problems in the years before he died. He ordered a battery of blood tests and like you I waited in eager participation for the results. Like you, again, the test results took about 12 weeks to come through and ... nothing! Yes, I have Cerebellar Ataxia, but what type it is, they can't identify.

    Sadly, I can't offer any suggestions. I just hope those lovely people at Ataxia UK read what we have written and add our experiences to their evidence files.

    As a final note: I have joined a Group on Facebook called Ataxia International (or something like that) which has hundreds of mostly American members. The majority of them name their type of Ataxia (SCA6 etc) so it would be interesting to know if the Americans have a way of identifying the genetic coding of a person's Ataxia in a way we in the UK don't. I keep reading my Ataxia magazine's research pages to get a hint of this fact.

    Sorry to go on at length, but as I said, your message 'struck a chord' so I've responded at length.

    Very best regards and take care of yourself

  • I was diagnosed with Cerebellar Ataxia (unknown cause) in 2010 and the cause is still unknown. Since then I have experienced other conditions which may or may not be contributions to my ataxia. Knowing of a cause of my ataxia won't make it go away but it would help if I knew what has caused it. However I don't wish to persue the matter too much as this will only make me feel more drained and anxious. I just make the best of what I can do rather than what I can't do.

  • Hello Wyndham

    My case is slightly different but here goes.

    A few years ago, they discovered that my family has SCA1. After lots of very good counselling, I was offered the blood test, before I was showing any signs. It was late arriving and positive. I had to come to terms with knowing what was going to happen to my body in the future and that I could have passed on the faulty gene to my kids. This was a very difficult time for both me and my husband. It probably took about a year. I think this is where you are.

    I see from your profile that you have not known for that long. It is still very early days and a big angry, frustrating shock. You want to try to understand what is happening. The blood test must be very disappointing. It was a bit like a grieving process for me. After a few months, you will start to get your head around it. Instead of seeing what you cannot do any more (which is incredibly frustrating, for us all) try to see everything that you can still do and try out new things that interest you.

    When I found out I had ataxia coming, my kids were in their teenage years and did not need me as much. I thought, right. I have limited time but do I have any regrets? I wished I had done more art. I did an Art Foundation course. Then the ataxia started, but I did a degree in Art and Design (very frustrating at times!). Now as part of my therapy, to keep me sane (well as sane as I will ever be) I make ceramics. I think it helps if you can find something new to focus on and give you some satisfaction.

    Your neurologists sound like they are frustrating you. Under the NHS patient charter, you are allowed to see whoever you want. I asked my GP to refer me to one of the Ataxia Centres, which are dotted around the country. I think I would try and go there because they are experts on ataxia and really know their stuff, even if you do not have a named ataxia.

    I hope this is not too much of a lecture and helps a bit. Allow yourself time to come to terms with your new circumstances. It is not fair,but could be worse. We cannot beat it yet but we can give it a really good fight. Try to develop an interest that you can still do too.

    The very best of luck

    Lit

  • Hello dear Lit,

    you write:

    *****************

    I thought, right. I have limited time but do I have any regrets?

    *****************

    It´s one of the most unfair aspects of SCA that your time

    is not more limited than anyone else´s.

    A neurolobgist said to me:

    "You might very well live to be a 100ys"

    Since I have 1 outdoor & 2 indoor rollators the risk

    of losing balance is minimized - so I might in fact

    celebrate my 100th birthday

    This I liked a lot:

    *************

    I hope this is not too much of a lecture and helps a bit. Allow yourself time to come to terms with your new circumstances. It is not fair,but could be worse. We cannot beat it yet but we can give it a really good fight. Try to develop an interest that you can still do too.

    *************

    Love

    Jurgen

  • Also my blood tests were negative seven years ago and I was diagnosed with late onset idiopathic ataxia. No one in my family had anything like it.

    The neurologists at that time in Liverpool were not interested in occasional follow ups just to monitor the situation so I got a referral to the ataxia clinic in London. There I see a specialist approximately once a year.

    My condition went downhill very fast the first two years after the diagnosis but has deteriorated very slowly for the last five years. I can only shuffle a bit now and use a wheelchair and crutches and my speech is slurred but not much. I have a host of other symptoms as well, (choking, shaky, etc), and wish an MRI would show definite damage of something but it doesn’t either. I know that nothing can be done about this ataxia but I wish that some cause for all this was visible.

    I also have low tension Glaucoma. Also for this there is no cure and I am slowly going blind, but here the optic nerves are much damaged and that shows.

    The cause of this damage is not known and not till a year ago I was told that there could be a connection with the ataxia. Before that they were definite there was no connection. If there is a connection no one knows what that is.

    Through Internaf (the international forum) I have found that some people with Friedrichs Ataxia have the same. Also some of them, like me, have to watch TV with sunglasses on (light sensitive). But my gene test, seven years ago, showed that I don’t have that. It is all very frustrating.

    Klazien

  • Hi, my name is Michel Beaudet, I'm 50, have FA and live in Quebec, Canada. Do you have Ataxia? Are you member of internaf? If not come join us, International Network of Ataxia Friends is a Yahoo! mailing list for ataxia patients and family/friends which serves as a support group and information exchange vehicle. There's also a website full of info at internaf.org

    For info on how to subscribe, go see, internaf.org/network/servic...

    We also have a facebook group -> on.fb.me/internaFB

    And for Canadians with Hereditary Ataxia we have a Facebook group -> on.fb.me/chataxia

    Et pour les Francophones avec une Ataxie Héréditaire Il y a un groupe sur Facebook (FAH) -> on.fb.me/fataxieH

  • Same here Wyndham.I have late onset CA of unknown cause.I would love to know what caused it.Like you I have had tests but no conclusion yet.No cure either.I like the image of Christmas without the presents.I also accept the comment of not knowing because it won't make any difference.Everone else seems to have a label for their Ataxia.Ours is just CA which means there are a number of us that exhibit these symptoms but they can;t finda genetic link . Basically they don't know. It feeels a bit likke an unfinished story.Very frustraitng.

    Marie

  • Yes Wyndham, I can really related to your comments. My wife has had difficulties for 7 years now which are getting progressively worse. Consultants were initially interested to find condition, but appear to lose interest when they can't pin it down to a more well known condition. Can't believe how well my wife copes and adapts. It's not been easy especially when she loses sensations in her arms and feared she would drop our son!

    No one can tell us what the future will look like. Work is becoming increasingly difficult as she is in education and standing up in front of a class is difficult.

    She's now getting frustrated by the range of tests she has to have and can't see the point.

    May she continue to stay strong.

  • I had to give up as a teacher after 25 years in the profession.I could no longer cope but the cognitive skills are still there.Very cruel.Lots of adapting.No answers for me either.The Neurosurgeon seems to have lost interest now I only have a broad label.

    Can't find a reason for the degeneration in my cerebellum.

  • Hi Marie

    Have you been to one of the Accredited Ataxia Centres to look further into a reason for your cerebellar degeneration?

    Harriet

  • Where do I find our local Accredited Ataxia Centres?

  • Hi

    There are Accredited Ataxia Centres in London, Oxford, Sheffield and Newcastle.

    Harriet

  • This page on the Ataxia website has information about the accredited centres Harriet mentioned.

    ataxia.org.uk/pages/ataxia-...

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