Hello everyone, hope you are all ok. I would like to ask a few questions regarding an up coming appointment with a genetic consultant. My dad passed away 18 months ago through complications with his Spinocerebellar degeneration (unknown cause) and I am currently going through the process of being tested as I do display some symptoms. What I would like to know is, will the consultant specialise in this illness? I saw a councellor a few weeks back to do a family tree to see where dad’s illness came from. We dont know much about dad’s family as he distanced himself from them over forty years ago (he was bought up in house full of abuse and neglect) and I am only in touch with a cousin from his family and she has nothing to do with them either so we dont know a great deal. What we do know is that severe tinitus and bladder problems run in that side, me and my youngest son have both. Dad suffered with them as did his brother and mother, her father did too. Thats all we know. Sorry to babble on a bit but just wanted to put as much info as possible. If anyone can help I wold be truely greatful. Lots of love to you all.x
Last year (2013) around June/July I started investigating getting tested for Ataxia. I had begun showing some symptoms of Ataxia and because my Mother had previously diagnosed with Spinocerebellar, I wanted the confirmation if I had the disease. My investigations led me first to a Genetic Counselor. In my session with her, we created a family tree to trace the illness and she also told me very specifically what Spinocerebellar Ataxia was and how it "manifests" itself in your genes. we also discussed physiological impact and what my expectations could be.
To try an answer you question more directly "Will the consultant specialise in this illness?", I am not sure. Mine seemed to be very well informed and below is an extract of the report she send me afterwards. Hope this helps.
Extract from Genetic Counseling Clinic Report:
"SCA 1 belongs to a group of approximately 25 types of spinocerebellar conditions. These are progressive disorders involving muscle incoordination as a result of atrophy of the cerebellum and spinal cord. SCA 1 is characterized by cerebellar ataxia (muscle incoordination), dysarthria (speech difficulties), nystagmus (involuntary movement of the eyes, usually from side to side) and bulbar dysfunction, which includes atrophy of facial muscles, twitches, tongue atrophy and fasciculation and swallowing difficulties. The disease usually manifests in the third or fourth decade and has a duration of 10 to 30 years but can be vary variable. The initial presentation in the majority of patients is characterized by difficulties in gait and balance, especially when going down steps, and slurred speech. As the disease progresses the ataxia worsens. Your mother was diagnosed in her 30s and is currently living in a care facility.
You knew that SCA 1 is an autosomal dominant genetic disorder and each child of an affected person has a 1 in 2 or 50% chance of inheriting the disease. The disease is caused by an expansion of an unstable region (CAG repeats) in the ATXN1 gene on chromosome 6. A diagnosis of SCA 1 is made when 39 or more repeats are identified.
The reason you attended the clinic was to undergo testing. We discussed that the symptoms you are experiencing at the moment are likely to be due to the onset of the condition. To clarify whether you have SCA1, genetic testing can be performed. It is important however that you have a neurology assessment as part of the testing process but also to manage your symptoms even if you test negative for the condition."
I’m sorry for the loss of your dad. If the genetic counselor is good and done some research on cerrabellar ataxias, then all the possibilities will be will be presented. The lab that performs the genetic tests is Athena, they will have info on their website and Ataxia.org has lots of information on genetic testing. Good luck!
I had lot's of invasive testing and 32 blood vilals drawn and sent to Athena also to try to find out which form I have. unfortunately they still didn't find out any reason. They assumed that it must have skipped a few generations. So I'm classified as I'm in that sporadic group, that they haven't found a reason why I got ataxia. I've been told that's where they throw 80% of the people that have ataxia. So if you find out great! if not don't let it consume you. To me it doesn't matter what I have, or what I can't do, but what I can. That is what I work on just making it better than yesterday! Good luck with your surch.
Thank you for your responses, they are very informative. The symptoms I have are gait problems, dizziness if I turn my head to quick, extreme neck pain, joint pain and I have fallen three times. I’ve always been very clumsy on my feet and often bang into walls and door frames. When I last saw my dad’s neuro he said my Babinski test was all wrong as my toes flare up and outwards and there wasn’t much ankle reflex. I sometimes think that I am imagining all my symptoms and convince myself I already have it. My tinnitus affects my balance when its bad and when my dads balance started to go we all thought his tinnitus and hearing problems were too blame. I do think a lot of it is in my head until I read posts on here and I have the same things that people on here have, anything from carpal tunnel syndrome to autism and ADHD (my son has both) I just need to know one way or another
I work on taking a proactive approach that seems to help me. I figure until they come up with a cure or a new test that I can take to get a diagnosis I'm trying to stay as healthy as I can. Yoga stretching helps. There are over 1000 moves. Some which have to build up over time to be able to do as instructed. But I think any helps us with day to day life.
To be honest, I feel that a medication is all that they offer. I think that's why I took on the job of helping myself out so my day to day life is easier. I was told for years it was in my head. I think the Dr's drum that into our heads when they don't have an answer.
I have to deal with some of the same things daily as you do. I know if I focus on my problems that I have with ataxia they tend to get worse. I look for a healthier way I can eat that seems to really help, and focused movements to keep moving. That keeps me busy so I don't have time for the mind to run with it.
I was a hairstylist for years and had things come up over the years that were unexplainable. Once I focused more on finding a Yoga stretch that helped that area it has made a huge difference not only in my body but my mind too.
The Yoga I do isn't the standing on your head Yoga like people assume it is. There are thousands of stretches out there.
Until they find something that might help, maybe it could help you to try some Yoga or Pilates moves too?
I do allot of these moves. Some days I have to hold on the chair much more than she does and can only do some but some is better than none. I tend to do more as I get stronger. I find if I skip a few days my days are much worse.
I think anyone can adapt these, even while not getting up on toes just having the foot flat works! :0)
Jeannie, thanks for the site...,very helpful! ;o)
Gail, if you testing comes back negative for SCA, look into gluten ataxia. This is where some of the 80% of people with unexplained ataxia end up.
Your symptoms sound very similar to mine, tinnitus, extreme neck and joint pain, dizziness at times, intermittent bladder issues and clumsiness that results in lots of things broken/damaged. Just to make life even more interesting, I also have headaches on a daily basis, burning skin and fatigue. As far as we know, mine is the result of gluten ataxia.
Hi Poppy, I was really interested in your reply as I too have daily headaches and extreme tiredness and looking back my dad had complained of neck problems for as long as I can remember. And when you mention burning skin my husband always remarks how hot to the touch I am especially on my back, sometimes I itch as if I have prickly heat. I also have a severe vitamin b deficiency, even skipping just one day’s vitamin supplement makes me break out in mouth ulcers and cold sores. Your theory is well worth investigating and I will mention it the next time I see the neuro. Does anyone know how long it takes for the results of the genetic test? Thanks