SCA17- Why is life so cruel sometimes

My mum, aged 46 has just been diagnosed with SCA17 after two long years of going back and forth to doctors and hospitals, given wrong diagnoses, we finally have this diagnosis. I have a little boy who is five months old and my whole life has just been turned upside down.

I'm really struggling to cope with this. Can anyone offer any advice?

I understand there is nothing I can do to change what's happened. I'm petrified for my mum as she is already showing signs of deteriation and now I've gotta weigh up weather I want myself and my son to get tested, on top of worrying about my brother and sister :-(

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I am 51 and I have SCA1. It is similar to SCA17. They are both PolyQ disorders that are fatal and have no cure, and I may have passed it on to my children, but they don't know that yet. You can imagine my state of mind 3 years ago when I found out.

Today, I am symptom free, and I believe, even if science doesn't yet agree, that one can delay and/or control their symptoms with treatments available today. The question for everyone with a similar condition is will they sit back and lament their condition or go out and fight with every tool available.

I know how hard that initial shock is and you have my sincerest heartfelt prayers, but know that you are neither alone nor without hope! Your mother does, however, have a lot of work to do if she wants to fight this disease.

Joe

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Thanks for your reply.

Must be awful for you, I cannot imagine. Do you plan to tell them or not?

The thing is my mum has gone past being able to fight it I think... I'll try my best but her speech is very bad, along with her balance and short term memory. She was diagnosed with cerebral atrophy to begin with, then dyspraxia, then dementia, and now they have found this SCA17 in her blood test.

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If you read my posts you'll see I always put in this disclaimer so don't think it's anything personal, and I'm certain you know this already, but never take internet advice without doing your own research and talking to your doctor. Now having said that here are my thoughts on testing:

If you review my posts you will find that since learning of my families affliction I have spent hundreds of hours reading scientific papers and sharing some of my thoughts on the internet. It is my OPINION based on the current research I have read some of which was in humans with similar disorders like Parkinson's and Huntington's and some of the research in animal models, that for people with no symptoms or early symptoms there is much they can do to slow or perhaps even halt the progression of their illness. It is a FACT that many patients have, in reality, experienced delayed onset sometimes to the point where they really have no symptoms at all. So . . . what does that have to do with testing?

If you get a genetic confirmation but you have no symptoms, you can then talk to your doctor and come up with lifestyle choices that MIGHT make an enormous difference in your life. If you do not get tested and do nothing you still have a 50/50 chance of having the illness but will be doing nothing to help your situation if the worst is true.

Again mine is just one tiny internet opinion and I urge you to talk with a genetic counselor before you make any decisions.

Finally, I will add this about telling your children.

Many smart people have accused me of deluding myself because I believe I have found a "cure". I believe this because my father, my aunt, and I all have SCA1 and we all have seen dramatic improvements over the last year following the regimen I have developed for each of us. In fact ALL of my symptoms are gone including some things I didn't even know were symptoms until they went away. Here is the list of symptoms I had:

1) balance - had to hold a rail on stair cases and couldn't put pants on without leaning on a dresser

2) strength - even though I have been exercising rigorously since high school I was losing strength in my legs over the last several years

3) speech - I was finding clear alliteration difficult

4) sleeplessness

5) increasingly poor handwriting

6) fatigue

Early on I didn't recognize fatigue, handwriting, and alliteration as symptoms, but now I know they were all likely linked to ataxia. Bottom line - all my symptoms are gone. Anyways to the point I was making . . . I have not told my children anything about the illness because for our family the disease is late onset. They have decades before they would notice anything so why give them that worry that you described in your opening remark. Also, I believe that within their lifetime science will have a "proven" accepted cure. I expect the "cure" will not be one drug or one procedure, but rather a "cocktail" of items, but none the less, I believe beyond a shadow of a doubt that by the time my children are old enough to worry they will have the means to overcome their illness WHICH they may not even have!

So there it is - my opinion - get tested so you can make healthy choices if the news is bad and don't worry your children because they have decades before it will affect them.

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Treatments are available today?? Really? N

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It is my opinion that there is "treatment" available for some people. That is not a proven fact. What is a fact is that there are many people with many differing neurological disorders that all share the underlying problem of "bad proteins" that have no symptoms or late onset of lesser symptoms, and there is most definitely a commonality between those people.

For people who already have major symptoms or who have larger mutations in their DNA, the damage to the brain has already been done and/or symptoms may appear at a very young age. Tragically there is not much that science has to offer people in that situation besides medications that may ameliorate some symptoms, BUT for patients who have a genetic diagnosis but no symptoms or very early mild symptoms. I believe a combination of diet, exercise, therapy, supplements, and meds can delay or slow the progression for this subset of individuals and given that most cases of ataxia have an onset late in life simply delaying onset might allow people to live "normal" lifespans.

Sadly, science and medicine today are hung up on "double blind placebo controlled" trials of single items. Science and medicine are not equipped to test for combination therapies. That is one of the points made by Dr. Mischley in this video:

vimeo.com/191664871

So yes, I believe there are "treatments" available for patients who are highly motivated to research, discuss, and act on their own behalf. That is why I am constantly coming on this website. Every time I get an email from somebody that talked to their doctor and came up with a plan for themselves that is working for them, I am motivated to come back and try to help others. Right now today across the world some people with ataxia, Parkinson's, Huntington's, and other neurological disorders are getting better but science can not explain why.

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Thanx for getting back to me. I wonder what I am doing wrong because nothing seems to help. I have what is believed to be immune induced ataxia. That is I have this weird antibody called CV2 floating around creating havoc. Sometimes Cancer makes its presence known beforehand via the appearance of these antibodies. But I don't have cancer at all.. At some point my neurologist thought I have MSA but a specialist he sent me to nixed that idea. She said to me that I have ataxia of an unknown etiology but in the meantime I have ataxia and my neurologist says its MSA-like. I have had IVIG (useless) treatments monthly since 2011... thanx N

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Courage courage! To get tested or not? Big question!If you and your close family get tested then you know and can plan accordingly. It’s scary anyway whether you have it or not- I was diagnosed withSCA17 recently -apart from My wobbly walk it’s not bad at the moment thank goodness but I’m scared. but better scary that you know than the scary you don’t . Stay +ve ! X

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My husband was diagnosed when our little boy was 3. It was devastating and for 2 years I felt desperate. Now I just focus on hope....I am even considering a second child. My husband is a stubborn man and that coupled with me force feeding him trelahose and vitamins seems to be keeping his symptoms at bay....placebo or not! I truly believe that soon there will be something that slows or stops this disease and we have to just trust that and live ..... because 2 years of worry nearly ended my marraige and sent me mad.....didn't help cure sca though! 😆

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Life can be cruel. But the mavens here and elsewhere all seem to say exercise relentlessly. I have what is thought to be auto immune induced ataxia. Never blame your Mom, she didn't sign uo for this. She's lucky she has you because care..N

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My heart goes out to you, my whole world fell apart last October when I found out that my partner of 11 years and the father of my two children (he now is my ex partner)lied about his family having ataxia.

July this year my 8yr daughter got diagnosed with unidentifiad ataxia. Left the hospital with we'll see you in 6 months!!!!

First thing I done is phoned Ataxia uk and spoke to them about what I could do to help. They have been a great help saying about getting her referred to a neurologist and said about excise she goes swimming and walk to school. Got her referred to physio and with in a month the physio and myself could see a big difference. She has to do her physio every day which is quite hard to get her to do it every day.

It seems that excise is the key. Also I go along to a ataxia support group ( Ipswich and Colcheter)which has helped a lot speaking to people with ataxia and their family members . Going to the groups has helped me. speaking to people who live with the condition at different levels.

Speaking to your family doctor about how your struggling it's a lot for you to cope with specially when you have a baby to look after.

You will have a fight Every day ,most doctors and people don't have a clue what ataxia is. But you will get though this and learn to cope with what has happened to your family. Kind regards Linda

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Hi Linda thanks for your message. So sorry that your having to go through this as well, that is a horrible story :(

I will be attending the Colchester and Ipswich support groups with my mum so will see you there!

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Hi so pleased that you are coming everyone is lovely and will make you feel welcome. I will be going to the lpswich group on November 25th . Really think it will be good for you and your mum to meet people who else has ataxia. I go on my own I don't think it's best that my daughter to come until she's a lot older. Looking forward to meeting you and your mum. Linda xxxx

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Hi Linda,

Yes will be at the one on the 25th in Ipswich.

Could we possibly swap email addresses or add me on Facebook to stay in contact?

Charlotte xx

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Hi charlotte have private messaged you on here with my email address xx

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My family is in a similar position. I completely understand the shock that you feel and the worry about your children and loved ones. There are times when I feel so anxious and it seems like Ataxia is the only thing I can think about. However, I have started to come to terms with it and focus on the joy and positives in life. My heart goes out to you and yours. X

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Hi Linda🙂 SCA17 doesn’t seem to be all that common does it, someone on livingwithataxia.org has just posted today asking if anyone else has the diagnosis. Apart from your post (re your mother), I found only one person on LWA and another on a Facebook group (Spinocerebellar Ataxia Awareness and Research Group) but neither post was recent. There are other Facebook Ataxia Support Groups, so I’ll check those for SCA17 🙂xBeryl

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