Spinocerebellar ataxia with oculomotor apraxia type 2

[Aasia]

Hi everyone .. I am new here .. my daughter was diagnosed with Spinocerebellar ataxia with oculomotor apraxia type 2, eight years ago. Is there anyone else here with the same genetic diagnosis ?

[HarryB Administrator]

Hi Aasia

Thank you for your post and welcome to this forum.

Ataxia UK have produced a leaflet specifically for parents of children with ataxia. You can find this at ataxia.org.uk/Handlers/Down...

There is also a closed Facebook page for parents. To join this you could either email [e-mail] of phone the helpline on 0845 644 0606.

I have ataxia but the cause is unknown. I know there are other parents who post on this forum. I hope you get some other replies.

Best wishes

Harriet

[Aasia in reply to HarryB]

Hi Harriet. Thank you so much for such a lovely welcome. I will do as you instructed. Regards

[tammsy]

Yes I have. After having just 'Ataxia' for 10 years, I was diagnosed about 12 years ago. How old is your daughter and do you have any other children if so are they affected?

[Aasia in reply to tammsy]

My daughter is 27 now. i have a son ,two years younger than her.. he doesnt have the disease.

[Regina75]

Hi Aasia, i have Ataxia with oculomotor apraxia type 2. Just found out last year this type. Does your daughter have abnormal eye movements and dizziness too. How old is she? Im a young adult

[Aasia in reply to Regina75]

Hi Regina, my daughter is 27 years old. she was diagnosed about ten years ago. She does have vision problems. over the years ,one eye has taken over and she has developed a mild squint in the other eye. It can be fixed with adding prism lenses I am told. these days we are using an eyepatch to cover the good eye so that the weaker muscles in the lazy eye gain strength. How old are you ?

[Regina75 in reply to Aasia]

I am 23. The eye thing is really annoying! I am going to go see an optician soon. My left eye has abnormal eye movements - i think due to my ataxia. I feel my sight is quite bouncy and at times get doubly vision but thats only sometimes. Lenses sound good im gna ask my doctor whether it will help with my eyes so i can see more clearly

[Aasia in reply to Regina75]

That was exactly my daughter's problem! Unfortunately she told me about it quite late and needs longer management now. you should consult your opthalmologist as well as a specialist optometrist for their opinion . the sooner you correct it, the better your vision will be. good luck.

[MonarchButterfly in reply to Regina75]

Hi Regina, I just came across this post. Not sure if this will get to you since post is old. My daughter was just diagnosed with aoa2. She is in early 20s. Not sure what to expect for her as there is not much out there on aoa2.

[Regina75 in reply to MonarchButterfly]

Hi how are you? How is your daughter coping? It was very difficult for me at first but I feel with the right support I am somewhat managing. Where abouts are you from? I love meeting new people

[MonarchButterfly in reply to Regina75]

Hi there and thank you for the reply. We are in Florida. My daughter is coping pretty well so far. She does physical therapy which is helping and has good family support. Your comment in an earlier post about bouncy vision sounds just like the way my daughter describes her vision especially when she reads. Made her feel relieved that she is not the only one experiencing that. Must be a symptom of aoa2?!

[Regina75 in reply to MonarchButterfly]

Wow you are miles away from me! I live in the UK. There are only a few of us with AOA2 as this is a very rare condition as I am told. That’s great that your daughter is keeping active and great to have support as it can get rather lonely at times. Yes, ataxia does effect eyes as I am told so visiting the eye clinic may help as I am due for my first visit.

I was thinking of holiday destinations and Florida came to mind. How is it like over there?

[cocofrance in reply to MonarchButterfly]

hi, I'm new to the forum and have only just seen this post. My son, now age 19, was diagnosed with AOA2 last year after a couple of years of genetic testing. Unfortunately it now looks as if his younger brother, age 13, has the same condition. Our daughter, age 21, seems okay (fingers crossed, no symptoms). It was hard enough with one, but very difficult to accept that two of them have this. Obviously a shock to all as had never even heard of ataxia before this. Would love to chat to other parents about their experiences. We are generally quite positive, live for the day people, thankfully, and four years down the line have learnt to just be grateful for how they are today, ie a bit unbalanced, uncoordinated, eye movements not too bad etc. We're in France and at least the healthcare here is excellent, but still feel it's all a bit in the dark, nowhere near finding a solution, and the worry for their futures is constantly in the back of our minds.

[tammsy]

Hi Regina and assia. Are either of you in the U.K. Both of my siblings are affected - so just wondering if there are other members of you families affected to.

[Aasia in reply to tammsy]

hi Tammsy.. i live in Islamabad but visit UK quite often as two of my sisters are settled there. I am a medical doctor myself. would love to meet up with you on my next trip. how old are you and how old are your siblings ?

[tammsy in reply to Aasia]

Aasia I've sent you a message

[Aasia in reply to tammsy]

I need some time to get the hang of this website. I post reply and then it doesnt reach you . what was the age of onset of your symptoms and when did you start using a wheelchair. Also please consult an optometrist for your vision problems . they have ways of fixing it.

[Regina75 in reply to tammsy]

Hi Tammsy. Have they got the same condition as me? (Ataxia with oculomotor apraxia type 2). What are their symptoms? And i live in uk - Cambridge and none of my family are affected its just me...