Should I try to find specific type of my ataxia or just live with it?

[jonbon]

I was diagnosed in Oct 2012 with idiopathic CA. at the age of 45. My neurologist does not think it's worth finding out if it is a specific type or if it is inherited. I have a 6yr old and am worried. Should I push for more tests or just try & accept and live with it as best I can, which is not very good as I am so confused. Please help.

[Fifa Volunteer]

Hello

My ataxxia is the same as yours. I have had every test known to man, all to no avail. During the time I was waiting for the results I worried myself stupid. At least it wasn't genetic.

What you need to ask yourself is what worries you the most, one thing for sure,whatever you can't change it.

I know words are cheap but try not to worry or think about the future. If you need to let off steam we don't mind, we are here to help if we can.

Take care

Fifa

[jonbon in reply to Fifa]

Hi Fifa,

Thanks for your answer. I think you are right I am just having a hard time coming to terms and dealing with it. Your whole life changes, I don't feel like me anymore. I received the pack from Ataxia UK today and have spent all day reading these pages. After months of feeling isolated I read the posts and just thought 'wow' there are so many people going through it and coping and so many positive attitudes. I feel more upbeat already!

Take care too.

Jonbon

[Fifa Volunteer]

Hello Jonbon

Thank you for answering. I am glad you feel better. It is hard coming to terms wiith this condition and despite what everyone says I don't think you do. You do what you can because you have no choice.

I am glad you have made contact with Ataxia UK their literature is very good.

Just take each day as it comes and do what is right for you.

Take care

Fifa

[silkwood]

I am the same.Like Fifa there are some of us that nothing will change the outcome-then there comes acceptance.Five years on from diagnosis I have seen some find it was gluten or immune deficiency.Then they could do something but for some of us all the tests in the world won't work.All that is left is our thinking and we can choose whether to be positive or negative.I have done things through a process of elimination-cut out gluten-tried anti-oxidants etc.Nothing worked.Now there is acceptance and that is hard but there are positives even in that.I have two grown up children in their 20s.I was worried there was a genetic link but the Neuro can't find one so with relief I think with mine it is just one of those things.I was 47 when I was finally diagnosed.I have 5/6 years to get used to it.I remember how it felt though. Ataxia UK are a great help as Ataxia is a unique problem and does not conform.

Jonbon yoo may have needs they can help you with.

[february]

I agree with Fita and Silkwood! I was diagnosed with Sporadic (Idiopathic) Cerebellar Ataxia 10 years ago (I'm 59 now), although I think it started quietly way before I was diagnosed. I had all the tests, accept genetic. which were negative. My neurologist said the same thing as yours, Jonbon, mainly because no one in my family as far back as we knew, had ataxia except me. Even though this was true, I wondered why/if there was a genetic link, even though there wasn't a cure. So last year I had genetic testing for the known recessive types of ataxia, which was negative. I have two grown children and grandchildren, so I know how you feel about you're daughter. I can understand your motives, but agree others, you can't change it. My advice is to live life the best you can, embrace the things you can still do and be as positive as possible! Keep as active (safely) as you can, even though ataxia is frustrating and challenging! This site is wonderful to "vent" on, as well as the US "Living With Ataxia" site (I live in the US). You are not alone in your journey!!! My best to you..., ;o)

[jonbon in reply to february]

Hi to you all and thankyou so much for responding to me.

I have read neta's blog with amazement, you seemed to get stronger with each post and february's responses were just so inspiring, the heels and dancing etc! Reading about everyones experiences and coping strategys has made me feel more positive already. My neuro, whilst being a nice man, does not seem all that sympathetic towards my ataxia so I have decided to get a referral from my gp to go to Sheffield. I have read all the info from Ataxia uk and didn't realise such places existed here as I have not really been given any info from the hospital and felt as if I was just floundering. Even if I don't have all the tests it will be so gd to talk to specialists in ataxia. I am going to a local support group in York, again ataxia uk gave me all the details,so it will be great to actually meet and talk with other ataxians.

I don't feel isolated now hearing from you all, it's really good to share and put it down in writing.

Best wishes to you all.

Jonbon x

[neta]

Hi there Jon Bon,

Check out whether it's not an auto=immune thing, which is treatable. Good luck

Neta

[Dory]

Seems to me that your neurologist might be a bit 'short-sighted'. If you are in the UK why don't you get your GP to refer you to one of the ataxia centres where they could discuss possible causes & genetic investigations with you ?

Whatever you decide to do I wish you good luck.

[february]

So glad you're feeling better Jonbon! One of my favorite sayings is, "a woman is like a tea bag, she never knows how strong she can be until she gets into hot water...,ha! I repeat this to myself on a daily basis! Ataxia doesn't "define" who you are as a person. Never give up or give in! We're always here for you, as we understand and can be supportive! ;o)

[siver52 in reply to february]

I like that, I may borrrow it for my facebook. lol x

[berejena]

Hi everyone, I was diagnosed with SCA type unknown in my 30's and I'm now 54. I think you need to try to keep positive (hard sometimes) I've lived in Spain for 10 years, sometimes I feel isolated but reading about other Ataxian's really helps & also reading the Ataxian mag. I have Dystonia too but try my best at things Jonbon. I love cooking & gardening & manage fine. Keep on reading this.

I like the saying about tea bags etc. made me laugh.

Keep well

Berejena

[jonbon in reply to berejena]

Hi berejena,

thanks for your positive response. Everyone is so upbeat and determind. I can't keep away from this site! If I'm feeling a bit low( or even when I'm not) I just read all the shared experiences and advice and feel stronger. The teabag saying from february really made me smile too, and I keep saying it to myself, and everyone else!

The fatigue won't go away, it's a real nuisance having to rest all the time during the day makes small tasks take ages. Am trying protein shakes but no miracle energy boost. Anyone got any tips on how to boost energy just a little? I am doing all the recommended exercises too.

Take lots of care

Jonbon

[HarryB Administrator]

Hi Jonbon

I was diagnosed with Ataxia over 20 years now and despite many tests, the cause is still unknown. I am 36 now.

I think your original question is an important and interesting one. There are a very small number of ataxias that are treatable and as such it is essential that you are tested for those. Beyond that I think the decision of further testing is a personal one. I personally am not desperate to know the cause of my ataxia, particularly as yet there is no treatment or cure. The most important issue for me is learning how to manage and cope with my symptoms on a daily basis. However I do not have children and I can only try and understand what a worrying and confusing situation that must lend itself to.

I am delighted you have made the decision to ask for a referral to Sheffield. You will be well looked after there. It might be that a cause for your ataxia cannot be found but you allowing yourself the best chance to explore every possibility. Make sure you write down any questions you have before you go and give yourself the opportunity to ask them.

Best Wishes

Harriet

[Litty]

Really glad you are feeling a bit better. When I first found out I had ataxia, I needed to know everything I could. I find the forums very helpful. I use this one, the other Ataxia UK one ( ataxia.org.uk/forum/ ) and Living With Ataxia ( livingwithataxia.org ). All full of excellent tips.

Everyone is very individual and copes with ataxia very differently. Time does help though.

My story is a little different because they do know what sort I have (SCA1) and it is hereditary. Back in 1995, my Dad was one of the first people to be tested (the doctors thought he had had a stroke). Unfortunately,he had SCA1 and they offered to test me and my sisters (we have 50/50 chance of inheriting the gene). I decided to accept since I had 2 young children. We had some excellent counselling from the UK Genetic Testing Network ( ukgtn.nhs.uk/gtn/Home). The Ataxia Centres offer this. I decided that I did not want any more children and was sterilised. I am really glad that I did not know that I had the faulty gene when I started my family. Our kids have pointed out that they might not be here and my Dad might not have had me either, if we had known. Our ataxia is not good but at least I am still here (a few relatives and friends died in their 20s from cancer and heart attacks). Once our kids turned 18 (now 24 and 22) they could be tested but decided not to because our ataxia will not start till they are in their 40s and they want to get on with their lives. If they have it, hopefully there will be treatments too. Also personally I found that that knowing you definitely have something coming is very hard to come to terms with. You do.

My one sister was tested and was negative, luckily. She did find it very hard though and had a breakdown. The other sister decided to wait. She started developing symptoms and tested positively in her 40s.

Dad died after an operation, due to aspirating in the recovery room. The doctors told us that if any members of family with ataxia had operations be sure to warn the hospital of weak throat muscles.

We all cope and have very different ideas. If you do decide on testing, the counselling before, is very good.

Good luck with whatever you decide : )

[hymek7000]

I would just get on with life if I were you. I was diagnosed with Ataxia but no-one ever told me what SCA I have etc. I was with my Doctor at the hospital and was told that I have Ataxia but that was it. I have not seen anyone about it since, which was 2006 possibly. I also am H.I.V. Positive but although there are 5 main strains it doesn't make any difference which strain I have and won't make any difference if I knew as I leave it to the professionals to deal with and the same goes for the Ataxia. Good luck whatever you decide. Ivan

[jurgen]

well, I just live with "my" ataxia. I realize it´s getting worse-

thats more than enough

regards

[ConfusedAtaxian]

I am amazed at the number of people who talk about ‘my neurologist’ or medical tests/assistance, whether any good or not. I was diagnosed with Idiopathic CA 3 years ago at 63 and signed off. I had to look it upon the internet and was horrified. NowI I just help myself and keep positive. As much as I’m asked about it, no-one truly understands. I used to be super active so it hit me hard. I cannot imagine coping with a young family. It must be so difficult! My CA has progressed and can no longer write, even typing is hard work. Some days are better than others as are some nights. I am pleased I found this forum, I feel less alone. Keep smiling 🤗

[february]

Dear Jonbon, I felt compelled to write again and explain my situation to you, as maybe it could help! I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause) when I was 49 years of age, although I had extremely minor symptoms starting at about 43 years of age. I was very curious as to 'why' I had ataxia and if I'd ever know what kind I had. I had always been so active/athletic/healthy. Over the years. I had genetic testing for the more common dominant and recessive ataxia's, which was always negative. At 64 years of age, in 2017,

my neurologist suspected I might have a rare form of ataxia, ARSACS (Autosomal Recessive Spastic Ataxia Charlevoix-Saganay). Therefore, I had genetic exome testing. Although it was negative for ARSACS, a single Niemann Pick C (NPC) gene was found. My neurologist wasn't particularly concerned about about a single gene, as you need double (2) NPC genes to realize NPC disease. He consulted with several specialists that were more familiar with NPC (he only had one patient with NPC, as late/adult onset is extremely rare extremely rare) and they told him to have me have a skin biopsy followed by a blood test. Anyway, when all was said and done my testing was POSITIVE for NPC! Apparently, I not only have a single NPC gene, but an unknown variant as well! I'll soon be 66 years of age, so I've had ataxia 20+ years and it has progressed (gotten worse) over the years. I got the single NPC gene from one of my asyptomatic parents and the unknown variant from the other. No one in my family, as far back as I know, had/has ataxia, except me!I have two sisters and a brother and they're all fine! I have two adult children and even if they're carriers (have a single NPC gene), their deceased dad would have had to have an NPC gene (to go with mine) for them to end up with ataxia. I'm really not concerned, as how likely is it for two people to marry that each have an NPC gene? I only have ataxia due to NPC, as infant, children and adolescents present with much more severe symptoms (an enlarged liver & spleen, respiratory problems & childhood alzheimers, etc.) and unfortunately die within a few years. Although NPC is rare in infants, children & adolescents, late/adult onset (in my case) is even more rare. Anyway, it gave me some peace of mind to finally know 'why' I had ataxia. I understand your concern for your child, as I felt the same way! Of course, there's nothing you can do about it, so try not to worry (although I realize this is difficult)! Someday, you may get an answer, like I did, even though I thought I never would! My best to you..., :o)

[ddmagee1]

Thanks, jonbon for asking for help! That’s what we are here for! We help each other, get through, living with the complexities of dealing with CA! There is no doubt that living with the many symptoms of CA, can be challenging, and, at times, discouraging and frustrating! For your peace of mind, I would recommend finding out the specific type, and if it is inherited. I had a DNA test done, and it was not showing up as inherited. Also, I had MRI’s done, and invasive artery testing done, and found out that my CA is due to an arterial problem, in my brain, that I was born with, and it is inoperable! I now know what I’m dealing with, and my worries and confusion are eased up, knowing what I’m dealing with. The neurosurgeon even showed me the brain scans, and results of the testing, which gave me the satisfaction of knowing what’s going on, and how I can deal with it. I take blood pressure lowering medicine, which helps alleviate some of the Cerebellar symptoms, somewhat. It has been very helpful for me to find out what was causing my balance, and uncoordinated physical difficulties, for example. I am glad that you have asked for a referral. You are not alone, and isolated, dealing with this. We are with you, each step of the way jonbon! Wishing you and yours Happy Holidays, and may your New Year bring the blessing of answers to your questions, and concerns! Take Care!

[Jenandbeth]

It has made a difference to my daughter to have an official diagnosis. It doesn't change her or her symptoms but it has changed the support she gets. She almost instantly got a wheelchair assessment and a physio and hydrotherapy plan fromPhysio. Social work and her respite provision changed her care plans to reflect diagnosis and predicted degeneration. Family and Friends suddenly had things to read that explained who Beth is and why Beth is and allowed them understanding. After many years of subtle blame from professionals who didnt get what was going on ' she falls more because your hall is painted too neutrally/ you let her push her sister's buggy/ you've let her put on too much weight' it has been so welcome to have a diagnosis that removes any blame and justifies my requests for more help. We had to fight for 3 years for a walker. During that time we were investigated by social work because a carer had reported a hand print bruise on Beth's arm ( that would be where my husband caught her falling down the stairs). I know diagnosis isnt always possible but in our case it has been a blessing.

[Jenandbeth in reply to Jenandbeth]

Oh her diagnosis is SCA19/22

[7151]

Hi to be honest i must have had antaxia for at leadt 10 or 12 years but to be honest not bad enough to worry about my kids and me laugh with i me walking like i was drunk then just over a year ago i fell over badly ended up.in hospital and finaly some one put à name to it ANTAXIA wow it was à realife to know i m not completly mad ! As someone else mentioned i d rather have à handicap and live than die of some awful illness ..i very proud of me i battle on and i wont give up ..get lots of home help i could have à nurse but préféré to manage without one ..even with my lovely home helps i do as much as i can with them ..yes i think its good to know ..good luck to you all xx