Its here!!

[Lucycord123]

So.... After a year og asking to be referred for a diagnosis.. Its here! Neurology took 7 months to see me only to conclude from reflex tests that I'm displaying mild symptoms of SCA2 followed by a referral to genetics who i seen for counselling 2 months ago. After asking them to go ahead with the testing i was phoned 2 days ago and asked for come to the hospital on the 31st for the final results.

I feel so weird. Excited and relieved they're finally here then crazy for feeling almost apprehensive if it comes back clear. Don't get me wrong, i know that would be amazing... A new life being handed to me as I'm certain i do have it.. SCA2 is strong in my family and i seem to be going the way mum etc did.

I'm a social worker andhave informed my work i may have this however I'm sure in my heart i do. I will be stunned of i don't and then i feel guilty for even thinking that way... I don't know

[PatsyIpswich]

I can understand your apprehension and wish you well. x

[Lucycord123 in reply to PatsyIpswich]

Thank you patsy xx

[wobblybee]

🤔 I agonised for several years after a wrong diagnosis..but eventually someone listened, specific tests were done, and a reliable diagnosis given. It wasn’t what I wanted to hear, but it was what I needed to know 🙂

People do ‘dither’ about informing employers, it’s a natural reaction, you can be damned if you do, and damned if you don’t. But, it’s always best to be as open as possible, some jobs need to conform to health and safety laws, so everyone needs to be protected. And, there’s always the chance that if an employer is informed, they’ll be accommodating if any special requirements need to be put in place.

I always try to prepare myself for any eventuality, I can understand your mixed feelings 🙂

[Lucycord123 in reply to wobblybee]

Thanks for your reply 😊 i have told my employers everything from the outset as I've been there 5 years. My difficulty is that people tend to be judgmental and assuma there's nothing wrong with you at firat glance, you're just clumsy.

They don't see the constant muscle spasms.. The constant fatigue... Difficulty with stairs as they day gets on. Etc etc 😊 i feel i need this diagnosis to tell everyone else the answers that o already know. It's a weird feeling to know I'll be more shocked if i don't have it... That sounds weird I know.

[wobblybee in reply to Lucycord123]

😏 Thinking back, I struggled just as much at the start of ataxia, as I do now..but just in a different way. Then, I’d panic because I didn’t understand the weird sensations..now I understand why I have challenges but know I can’t do anything about it.

Initially, I had awful fatigue, chronic eye problems, horrendous problems with multitasking and my concentration was totally unreliable 😑 These are things outsiders fail to pay much attention to, they’re rarely picked up on...it’s even possible these symptoms can be put down to laziness, or depression. In fact, my GP did think I was ‘just depressed’ until I started to have falls.

[Lucycord123 in reply to wobblybee]

Exactly... SCA2 is strong in my family... Mum and 4 uncles had it.. Extended family too... I have 2 younger sisters.. 1 has been tested and has it. I've always been quite positive of thr reasons for my issues ad I've lived with it through family members all my life. And now I'm thinking... Right finally here now people need to provide the correct support I'm entitled to. And then there's another thought thinking.... I've spoke about this for a long time with no uncertainty and what if it comes back negative... Of course after the shock I'd be over the moon..

[wobblybee in reply to Lucycord123]

🤔 I have no family history at all to go on re ataxia. My Mother had an aneurism which caused eye/balance problems but that was never linked to ataxia.

When my symptoms first started I was able to ignore them for a while, I actually considered they might be linked to menopause 😂that is until coping with them had too much impact on daily life.

By having family history you are better placed to get a quick accurate test result, which is hopefully negative in your case 🤞. It’s so different when you know Neurologists may be groping in the dark 😏 With Neurological ‘diseases’ symptoms can overlap but relate to different conditions, and when there isn’t an obvious genetic link with an ataxia it must be a real challenge to give a correct diagnosis.

I think I can understand your conflicting emotions, for so long you’ve lived with the possibility of inheriting the gene ( 50/50) and seen several other family members cope with challenging symptoms. And maybe you’ve almost talked yourself into receiving a positive diagnosis 🤔

[Lucycord123 in reply to wobblybee]

Sorry for the late reply. Perhaps yours right... I guess I'll finally know in 2 days 😊 there's a silly part of me that feels that statements is so patronising, like, what else do i feel if it isn't SCA then?, but you're so right. Such a weird feeling.

My mum was 48 when she died... So afraid the final stages would take her as she was almost there but they didn't. She died suddenly of a brain haemorrhage. No trace of SCA? That must have bwen6a long and agonising journey.

Lucy

[wobblybee in reply to Lucycord123]

😔 Were you quite young then Lucy..I’m so sorry, it’s must have been very scary for you, I can only imagine how devastating it must have been.

My Mum was in her 40s when she had the aneurism..I was about 12 at the time, and recall I was terrified. Doctors thought she wouldn’t survive...recovery took a very long time, and she was never quite the same afterwards.

[Lucycord123 in reply to wobblybee]

It only happened last year, i was 29. 12...wow that's really heartbreaking, I'm sorry. Mum's was described as catastrophic. We had to turn of life support 3 days later. I'm sure that no matter how much time has passed, it's devastating to recall.

What type of SCA have you been diagnosed with?

Lucy

[wobblybee in reply to Lucycord123]

🤔 Nothing ‘set in stone’. Initially (early 1990s ), I had Deja vu episodes, and a seizure in my sleep, so I was thought to have Temporal Lobe Epilepsy.

But, years before that occurred I was aware of balance issues.

The Epilepsy diagnosis was dismissed when I started to have unexplained falls, and at that point an MRI showed mild Cerebellar Atrophy.

Genetic testing failed to find a solid link that was hereditary, although I do have a ‘less than 100%’ link with a mutant gene..SYNE1.

I’d noticed my symptoms seemed to be following a ‘cycle’...there was a definite pattern happening regularly. So, I was tested for the current Episodic Ataxias, but there wasn’t a match.

I’ve also been told I’d be tested for CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome). But as yet I haven’t been told of any result.

[Lucycord123 in reply to wobblybee]

Wow... That does sound like a long, agonising and frustrating road. Only ine day away from ny results... I'm looking to being able to sleep after tomorrow

[ddmagee1]

I have found, that by knowing for sure, what type of Ataxia diagnosis, one may have, that, at least, they will be able to find a way to deal with all the ramifications, of the diagnosis. Good luck to you!

[Lucycord123]

Well that's it here... The diagnosis i knew... SCA2

[auntiesally]

Are you scared about the result? scares me