So when i was diagnosed in December 2015 it was hard. I couldnt believe I had a disease. But at the same time there was some relief. Finally an explanation as to why i couldnt run or jump anymore and why it felt so weird moving my body. . Now im part of a research study about to get a treatment for my ataxia. Dont get me wrong I’m very grateful and thankful its just i feel like i finally get an explanation as to all the problems and mistakes I’ve made throughout my life and now they just want to take it from me? I’m sorry am I just being stupid?
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Know what you mean about an explanation, but does that mean you want to feel like this? Now you know why, but the question is don’t you also want to get better if you can?
It’s a lot to take in, give yourself a break and let them try as long as you’re ok with what they ask you to do - but if you don’t want to be part of the trial just tell them you’ve changed your mind - that’s the main thing to think about, isn’t it?
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dolo23
what ataxia disease did they come up with?
I was diagnosed with SCA7
I feel like I owe it to this disease to give these doctors and scientists as mich info as i can. I have SCA7 which is considered rare. Not many people know about it. But i do want to get better I’m not sure what I really mean. I guess since Ive had to kindve put my plans to the side i havent been able to find my ambition. What i really wanted to do with my life has been taken from me. Maybe if i could find something else I wont be so worried?
well at least there is medication for that 1. i have cerebeller ataxia and its a rare 1 and there is no medication for it and they wont do any research on it. so youll go farther that i will with your condition than i will GOOD LUCK
Do you mind saying what age you are? Can make a difference to outlook on life… I m 59 now was 52 when they said SCA but don’t know which type still! Resigned to being retired disabled now but not to getting worse - can just about be independent now but it’s hard to get used to knowing I won’t be in future
Hi Mazy😊 I live’ hop and a jump’ away in Newcastle😉 I was Idiopathic at first, and I was asked to donate DNA for research purposes. Several years later a link was found with a Recessive mutant gene, which is passed on by carriers ( both parents) who are themselves unaffected😳
It can take an extraordinarily long time to search for an answer, to be allocated a type, sometimes it remains a mystery. Inevitably this can add to the stress of coping with progressively challenging symptoms😏
Currently, I’m 66 and still mobile, although I am challenged and rely heavily on my husband🙂 Symptoms started to become a problem in my mid to late 40s and it was a long tortuous journey to diagnosis in 2011😏
I worked through depression, anger, loss, grief…you name it… But, eventually I was able to get my head around the situation and deal with it😏 It is what it is… Frustration is a daily occurance, it never goes away. Personally, I try to find a distraction until I can get things into perspective again😉
None of us know exactly how things’ll progress, Neurologists can predict outcomes based on previous cases but we’re all individuals so often they can only generalise.
xB
SCA 7 is a polyglutamate disease like SCA 1,2,3,6,17,DRPLA,SBMA, and HD. Theoretically it may be treatable with trehalose. I suggest you read the research and/or discuss the matter with your neurologist. Bioblast Pharma has provided evidence of efficacy in OPMD and SCA3, but if their treatment is effective the modality is the same for your form of SCA and that means trehaolse may be an effective treatment for you. You can wait for them to complete their research and be certain or you can research options available to you today. It is my belief you can slow or possibly even stop the progression of your disease, but my belief is that of one individual. I suggest you contact Dr. Schmahmann of Harvard Med, and ask his opinion on trehalose. It is also my belief you need not suffer anymore, but science is a decade away from having the “complete proof”.
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Bioblast Pharma have finished their phase 2 study re SCA3 and Trehalose but say further studies are required🙂
It’s ‘inflammatory’ for anyone other than a medical professional to suggest anything could slow down or stop the progression of SCA. We all have different opinions, some of us choose to research in depth but it’s very unwise to specifically recommend something that is still undergoing trials.
We’ve recently had similar post regarding Trehalose, you might find it interesting🙂xB
Dear - thank you for sharing your experience and the papers. I have heard of trehelose for ALS and am interested in learning more. A few questions
how did you pick dose to take? Can trehelose be taken orally? Any advice on where to obtain. There are a few patients I would like to share this information with while we figure out next steps.
I would like to connect you with Dr Schmahmann who is our SCA expert - there is also a new ataxia network forming very interested in clinical trials- he is part of that.
I would be interested in pursuing this also possibly in als.
I will ask my HD colleagues also for input. More soon. Tx for your help and answer to above questions. Merit
Merit Cudkowicz, MD
Chief of Neurology, Massachusetts General Hospital
Julieanne Dorn Professor of Neurology Harvard Medical School
15 Parkman Street ACC 705
Boston, MA 02115
Hi -,
Thank you for your email.
I have also been interested in the potential of trehalose as a putative therapy for HD and other polyQ neurodegenerative diseases.
While I was very sceptical of the initial trehalose studies, there does seem to be a body of evidence suggesting that this might be reasonable to consider for eventual human clinical trials.
I do not currently run any studies in SCA1, and I am fully occupied with ongoing clinical trials in HD and as the co-chair of the HSG, my primary focus has to remain in HD.
Clinical trials are very expensive and difficult to organize. I have no experience with anyone funding a clinical trial using donations or fund-raising from families. The most likely path forward would be to generate a proposal to the NIH an/or FDA and seek funding from these sources. Unfortunately, As you may soon hear this is not currently the best time to be trying to push forward medical science in the United States. I believe that the recent Minocycline and creatine trials in HD were funded using this approach.
At this time any trial would need to be in HD for me to be involved.
Generating a viable proposal and clinical trial design is not something that I can take on at the current time, but I would be supportive of the effort and would be willing to help out as possible.
Cheers,
Blair
Blair R. Leavitt MDCM, FRCPC (Neurology)
Co-Chair, Huntington Study Group
Professor, Department of Medical Genetics, and Division of Neurology, Department of Medicine (Associate)
Interim Director & Senior Scientist, Centre for Molecular Medicine and Therapeutics (CMMT) - Researching Life to Change Lives
The University of British Columbia | Child & Family Research Institute
Room 2020, 950 West 28th Ave | Vancouver, BC Canada V5Z 4H4
Dear -,
Very many thanks for your email and for taking the time to write to us.
Your thoughts are certainly interesting, and there does indeed seem to be a rationale for studies along these lines. In the first instance I would request a couple of weeks for us to digest this and consider a) existing data as we are coming to this afresh, and b) possible approaches to tackling this. I would propose that we then schedule a call to discuss in greater detail.
In the meantime, if you have carried out a literature review or similar, then I would be grateful if you could forward any such material.
All best wishes
Thomas
Thomas F Hiemstra PhD FRCPE
Senior Trials Fellow
School of Clinical Medicine
University of Cambridge
Honorary Consultant Nephrologist
Director, Patient Led Research Hub
Cambridge Clinical Trials Unit
Box 401 | Addenbrooke’s Hospital | Hills Road | CB2 0QQ
Maybe LivingwithAtaxia would like to help some patients find real answers now and advocate for research that may actually provide a treatment instead of arguing over what is “inflammatory”?