Waiting Game...

[ToniM]

So today i went to see the Dr who took my blood to test for SCA2.

She was brilliant in all honesty she explained everything as best she could and best of all gave me the options should I have it what I can do to have a baby.

She was impressed at how much I new already thanks I this page and the world it Google. I'm still very hopeful that I don't have SCA2 but if I do it doesn't sound as scary (I know I can't speak from experience and this status may prompt some differnt thoughts) im just trying to stay positive.

Now I wait... 4-6weeks for my results (nice Christmas present eh!)

Xx

[Dressy6]

Hi Toni. I have been following your posts as we are in a similar situation! My mum was recently diagnosed with SCA2 and II as not sure about whether or not to go for tests yet.

Thank you for sharing your experiences. Fingers crossed you haven't inherited the SCA2 gene (and the same goes for me too!) but I wish you all the best.

Out of interest, because this may apply to me in a few years, what were the best options that they talked about for insuring that the faulty gene doesn't get passed on to any children we have? I've heard that they can screen for the faulty gene using IVF and only implanting healthy embryos? Just wondering if they spoke about that at all out of curiosity!!

All the best to you and your family

[ToniM in reply to Dressy6]

Hi Dressy!

Yeah I'm hoping for a negative test but I feel a little better either way. I'm not waiting kids yet but I did ask abut the options...

There are 3 (2of which I'm not a fan of) and I don't know the proper technical turns so I'm apologising now...

1... If you fall pregnant and don't find out till 12-18 weeks they can test the Fluid around the baby and they can tell if it has SCA 2 then you have the option to keep it or terminate it.

2... Same as above but it's up to 12 weeks there is a similar test they can do and again you can choose either way.

3... If you are planning a baby you can go for testing they can then put you through IVF and they fertilise your eggs outside of the womb and say they do 9 and find 5 healthy eggs they can implant 1 and freeze the others should you want any more (there are certain rules and fees which she didn't go into) it's nice to know though....

Like I said she went into a lot more depth and big words so please check before you quote me but that's it in its basic form.

Hope that helps.

I didn't know wether to go for the tests or not but if I didn't I would do my own head in so I just did it. It's not as scary when you speak to some one who knows what they are tabling about if that makes sense

Xx

[Dressy6 in reply to ToniM]

Hi Toni! Thanks for your speedy reply

You are an absolute star, that info is much appreciated!! I think you're right and one day probably quite soon I might get the test myself just to have that closure - and your experience sounds like it has been a positive one so it doesn't sound so daunting!

I hope we can keep in touch 😀 xx

[ToniM in reply to Dressy6]

It's entirely your choice and I'm more than happ to keep in touch!! You can message me direct if you like.

Just be mindful if you do want to be tested (I'm not sure where in the world you are) but I'm in West Yorkshire and iron 18 weeks between getting the referral to getting the appointment

Xx

[poolboy]

Hi Toni. Fingers crossed for you.

[ToniM in reply to poolboy]

Thanks... its just a pain that I have to wait so long to find out. I suppose once you have made your mind up it just drags it out x

[february]

Dear ToniM, Sounds like a very caring doctor! And to your credit, you have a very positive attitude...,kudos to you! I hope all works out for you even if you have SCA2! My best to you...,;o)

[ToniM in reply to february]

Thanks February I might not be so positive when it comes to my result but I have to for now as I'm still 50/50.

She was a lovely doctor lets just see if I can find a neurologist like her as well! Xx

[rach33]

Hi Toni,

I joined this page a year ago but must admit have not been on for ages. I read your comments and you are in a similar situation as I am. My mum has SCA 2 and has had it for years, she's gone down hill pretty bad but she's her own worse enemy!! Stubborn and independent. Think I would be the same. My grandma had it and last year we found out my antie has it, my mums sister.

Me and my brother have positive weeks and think positive about "our future" but also we have fears and serious worries . My brother wants the genetic testing, I'm unsure, don't think I could handle the truth. I do diagnose myself if I wobble or walk funny, my husband says its in my head, he's not noticed any symptoms on me.

Your so brave going for test results. I really think I should. I worry non stop lately about it :(((

Xxx

[ToniM in reply to rach33]

Hi Rach.

As soon as my dad told me I wanted to find out I can't sit and wait for something to happen I'm very much of the opinion that if I know about it I can try and control it best I can. If I haven't got it (which there's a 50% Chance I haven't) then that's fantastic... But if I have I needed to know my options, where I stood and what the future is going to be like.

It's not something you can stop the onset of happening but if I have got it I will try my hardest to prevent the symptoms. A few people have said on here staying mobile from the beginning helps, well I currently sit down for 10-15hrs a day at work and if it's a positive diagnosis that will have to stop as of seen my uncle who sat down all day at work for 30yrs who's rather unwell with it deteriorate quicker than my dad who is on a building site all day moving about.

I know everyone's cases are differnt but I felt I needed to read up on It and get it in my head what to expect because even though I might not have it there is still the chance my sister has so I wanted to be able to explain it to her as well.

This site is brilliant it's given me loads of information and I thought my family were the only ones with it as it's not that common until I came on here.

Finding out is entirely your choice and I know some people just done want to know but I had to.

Keep in touch.

Xx

[rach33 in reply to ToniM]

I didn't even know you had replied :))) 

Thankyou so much. You must think I'm ignorant haha. My brother has decided to get his results as he is very much like you! 

I just can't handle it right now. My mums going through a bad time with hers at the mo , so I am doing the " caring" 

My time will come xxxx

Thanks for lovely reply

Did you get your results? X

[ToniM in reply to rach33]

I did I updated the other day... I'm all clear. It was such a relief! I have concerns for my sister who still doesn't know about my dad's condition so we will cross that bridge when we come to it. 

I'm all clear though so I'm very happy. Dad was so pleased too. 

Good luck to your brother is a scary time waiting for the results but it will be a relief either way. Fingers crossed!! 

Dads not better but I don't think he is worse. He is wobbly and it scares me that he is still at work and uses scaffolding so I always worry he will fall  

Get in touch if you need anything else. 

Xx

[rach33 in reply to ToniM]

Thanks xx

It's a bit lonely is ataxia. We don't have any support. We live in Huddersfield /Yorkshire so I don't know anyone with ataxia like in our family. My brothers very nervous  

I'm jealous in a way but I know if I heard the words " I'm positive"

I would be really gutted deep down. My mum is falling non stop. We argue with her all the time cos she won't have any help . She's only 60 so not that old! I'm so worried about her. 

Isn't it a strange condition? But positivity xxxx 

Nice to be able to speak to someone neutral x

[february]

For anyone with any kind of ataxia, being as active (safely, of course) as possible is SO important! My neurologist has instilled this concept in me (easy for him to say...,ha!).It's not easy, but nothing worthwhile is (easy)! I do exercises for strength and balance, as keeping ones body as strong as possible helps with movement (especially the core muscles). Plus, my neurologist says the key to balance exercises is repetition and to keep challenging yourself. For instance, I stand at the ledge between my kitchen and family room (in case I start to fall I can grab on). I balance on one leg and then the other for as many seconds as I can and keep upping the seconds. My neurologist claims there's been successful studies in animals showing new neural pathway formation in their brains. With atrophy of my cerebellum, I'd welcome some new neural pathway's! ;o)