Currently, I'm on a bit of a mission. I got diagnosed with SCA1 last year, more recently however I found out that my lab hadn't exactly completed my testing.
The NHS in my country (South Africa) can test for SCA1 or the ATXN1 gene BUT they haven't been successful when testing for the CAT interruption. As I'm sure most of you know, if you do have the CAT interruption you wont be symptomatic! This will obviously change everything for me and for you too!
My mission has been to search for the testing protocol for CAT. I'm writing to labs all over the world asking if they will be able to share their knowledge with South Africa. I've had alot of no's :( but I'm convinced that I'll get a YES at some point. Where there's a will, there's always a way.
While I've been on my quest I started thinking about all those people out there who have had difficulties with testing or Dr's or diagnoses etc. I would so love to hear your stories. Your frustrations. Your challenges. Your success. How has the medical fraternity supported you or have they? What could be done better? Do you feel heard. Anything and everything - I'd love to hear it all.
Looking forward to hearing from you :)
Sounds like you might be writing something up, if you are and are going to put people's stories in it, it would be nice to mention that responses might be used. Good luck with your project.
I have always sort a definitive diagnosis in the hope that something would be found for which there is treatment. However, 3 MRI's of brain and other parts of body, CT, 2 lumbar punctures, muscle biopsy and nerve conduction tests have all proved inconclusive. I have been told that I have 'something wrong' with muscles but they dont know what.
I will be 72 in November and dont want any more testing or monitoring. First MRI's were tolerable but the latest one was so noisy and uncomfortable, I wouldnt want it again. The nerve conduction tests were like torture especially when performed by junior technicians.
I feel I have done my bit to contribute towards data statistics and just want to grow old gracefully.
My daughter is being seen by consultants at Great Ormond Street Hospital and the Neurology Centre of London. It was very difficult for us to take her from my country (Malta) to London due to her problems, but the care she is being given at this hospital is excellent and invaluable.
Ataxia is a very challenging disorder but when faced with problems in life there are only 2 ways, which you can pass through: Either you feel sorry for yourself and do nothing and risk further psychological problems, or else you can stand up for yourself or the patient, and fight the situation the best way you can.
Personally being a Health Care Professional faced with the inability to be of help to my 15 year old daughter after helping other people for over 30 years, I decided to fight back, by continuing further with my studies. I have started a course that leads to become a doctor of Oriental Medicine.
I am well aware that there are quite a number of research based studies that confirm that there are treatments which at least can improve the patient's daily activities of living. Although I am well aware that there is no cure for my daughter's ataxia, I am going to do the best I can to help her at least overcome some of her problems.
Good luck for your future and the research you are doing.
Thank you all so much for sharing and also be aware that I wouldn’t share anything (I eventually want to start a blog about what I’ve been dealing with) without your permission. If you know of other people and you think they have a story to tell please direct them to me. The more information I have the more good I can do. Thank you so much
Lilly I’ve not heard of CAT. Interested to hear more. I’ve had SCA for 13years with a diagnosis from observation and no confirmed lab or gene tests. Had every gene test available as of 2007 and 4 or 5 MRI’s with no cerebellar leisons or shrinkage. Had terrific and bad docs both. I’m pretty convinced its SCA due to a couple of docs who have all kinds of observational tests indicating so. My bother and possibly my sister also have symptoms and my mom had it. This week I discovered that it is possible to improve balance with a series of exercises developed quite some time ago. Will ad link to article on internet once I locate it again. This is what I’m experiencing. Lots of movement regularly (exercise) seems to be helping my balance considerably. Unfortunately most of the neurologists I’ve seen know little about this disease or they aren’t saying if they do. They give little hope and don’t like answering my questions and they really don’t want to talk about anything found on the internet.
I have not had any DNA test. Neurologist ask if I wanted to and I ask if it would make a difference, his thought was it would not. My feeling due to cost of the test decided against. The one positive is that having DNA testing and if the test results proved that it was due to genetics I could then tell my family. I contemplated the worth of that and ask myself how would that change their lives. Decided that it had more negatives than positives. I do not have children, no presentation of Ataxia known in family before. So this informed me that it was a crap shoot that future generations may present with Ataxia.
Having the DNA test would not change my condition -- it is what it is.
I went to many neurologists for over 16 years and none could diagnose my illness. In the mean time my illness was getting worse. I knew I had to get proactive and solve my own problem. I finally went to a MD doctor who specializes in nutrition
she found my problem on the first visit. She knew what blood test to run. In two weeks my results came back it was thiamine vitamin B1 deficiency. If you have thiamine deficiency for over 10 years it causes lesion in the cerebellum.
I found out main stream doctors here in USA are not trained in nutrition adequately only if you are going in to the field.
Here is a report by PubMed a national medical L:ibrary. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430660/
Here is a website on my illness. http://www.ncbi.nlm.nih.gov/pubmed/16527765
Dear Lilly, Have you written to Athena Diagnostics here in the US? They do much of the genetic testing. I have Sporadic Cerebellar Ataxia (unknown cause). I was diagnosed eleven years ago and my symptoms effect me 24/7. My ataxia has progressed, albeit slowly. I've had 3 MRI's (one every 5 years, with each one showing a bit more atrophy of my cerebellum. Initially when I was diagnosed, I had a nerve/muscle test, tons of blood work, as well as visual/manual testing. A couple years ago, I had genetic testing for the known recessive types of ataxia, which was negative. I may have genetic testing for the known dominant ataxia's, although I haven't decided yet. Although there's no cure, I'm curious! No one in my family, as far back as we know has/had ataxia, except me. Anyway, I hope you find a lab that will work with your country, South Africa, to test for CAT! My best to you..., ;o)
Thanks for the info, Steve! When you say lesion(s) on the cerebellum, what exactly do you mean? Is Vitamin B-1 actually thiamine? How does magnesium enter in the equation? What is the therapeutic dose of Vitamin B-1
(thiamine?) and magnesium? Do you find any other Vitamins/Minerals helpful for ataxia? Inquiring minds want to know...,ha! ;o)
The answer to your first question Thiamine is needed to break down glucose in the cerebellum for energy. If you donot have thiamine your neuron cells get starved for energy. The cells get inflamed and turn to lesions cell death. Cell death
causes atrophy. The answer to your second question vitamin B1 is also called thiamine. Third question Magnesium is a cofactor to a lot of vitamins such as vitamin B1 B12 D etc. If you are also magnesium deficient a lot of vitamins will not
function in the body. The vitamins minerals I take for my ataxia is B complex separately without B6 I am allergic to B6
I take extra B1 100 mg 3 times a day after meals since I am thiamine deficient. 5000 iu vitamin D3, calcium 1000 mg 500 mg magnesium per RDA recommendations Zinc 15 mg, vitamin C 1000 mg E 200 iu. I feel good every day with no pain what so ever. Here is a PubMed article a national medical Library on thiamine and magnesium. http://www.ncbi.nlm.nih.gov/pubmed/4050546 Just remember pain is caused by inflammation so
the goal is no inflammation.