Anyone with an infant with ataxia?

We are waiting for a formal diagnosis, we have had an MRI which shows that my one year olds cerebellum is smaller than it should be and has deep furrows on each side - its been damaged. We are waiting to find out if her condition is progressive or genetic. She cannot sit unaided, cannot crawl, cannot use both hands at the same time, she has a squint and also nystagmus. She is learning to roll herself over but doesn't

Show much interest in doing so. The physio's refer to her movements as ataxic. There is no family history and this is a total shock to my husband and I. I am struggling with coming to terms with the fact that my daughter is Going to be disabled. She is though a very cute, beautiful, engaging baby. Cognitively so far she seems fine, although I think her speech is going to be affected to. Does anyone have any comments to make/experience?

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Hi, it came up that samames answered my question and i read your response this morning but what with looking after little Ella i wasnt able to reply until now. But now the responses have gone? I hope everything is ok?

Samames - your answer gave me a lot of hope for the future. We are going through a bit of a tough and emotional time at the moment and i guess not knowing yet the severity of her condition, is very scary. Once we know, then we will be able to support her. She is such a lovely child and its almost as though we are grieving for what we and she could have had. The differences between Ella and the average one year old are so obvious. I just hope it wasnt anything that i did in pregnancy that led to this. Although, i am not sure what, as i was sooooo careful but it is very easy to blame yourself, although i don't know what i am blaming myself for!

[HarryB Administrator in reply to Hidden]

Hi there

I am one of the admins of this community. I also saw samames comments this morning. I have no idea where they have gone. It is only the admins who can delete posts and I can assure you Sam's posts have not been deleted deliberately. I will look into this and let you know if I find anything out. In the meantime, let me reassure you that everything is fine!

I am delighted you got some comfort from Sam's comments. I too have an atrophied or shrunken cerebellum. It was always thought that I was a clumsy child until I was diagnosed with Ataxia when I was 15. This was just before my mock GCCE's which I went on to complete and went to University after my A-levels to study Medicine. I worked for 10 years after graduation but have recently had to take early retirement on medical grounds. I am 36 now. Like Sam, I am still walking but use a stick and/or wheelchair when outside of my flat.

Having ataxia or any disability for that matter does not mean that life is over at all. It might be more difficult and take more time to do things but the most important thing is that those things can still be done. I think a lot of it depends on your approach, both yours and Ella's. Guilt is a very common emotion but please let me reassure you that you did absolutely nothing wrong during your pregnancy and that Ella's difficulties, although heartbreaking and scary, is absolutely not your fault.

Harriet

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Thank you, it's so difficult when the computer plays tricks like this!

I was so glad to hear that Sam has nearly completed his degree and wants to do a phd. The whole thing is over whelming. It does sound then that Ella does have a form of ataxia then? What I am saying doesn't sound odd?

Although we are also being tested for infantile axonal dystrophy which is also bloody scary. I just wish we didn't have to live through this at all!

I have had to retire a few people on medical grounds at work. I hope that whilst you don't have work to go to, that you are able to live a fulfilling life and keep busy and happy. Happiness is the key as you say. My husband is the positive one and will work tirelessly to ensure Ella is happy and won't loll into a state of sadness. He does that for me too. A grown up tigger. We all need that in our lives xxxxxxx

Thank you - sorry If this post is about me, I am being insular and selfish at the moment xxx

[HarryB Administrator]

Hi

The word 'ataxia' means lack of order. 'ataxia' is a symptom of lots of different disorders so when you have heard that Ella has ataxic movements that means that her movements lack in order so come across as clumsy and awkward. Confusingly, there is a group of conditions called the Ataxias which are a collection of symptoms where ataxia is the main symptom.

It sounds like the doctors are thinking her ataxic movements are secondary to infantile axonal dystrophy and that she doesn't have a primary ataxia condition at all. However I can't comment on what her diagnosis-that is up to her own doctors. I know very little about infantile axonal dystrophy but know enough to say what you are saying doesn't sound odd at all.

And for the record you don't sound insular and selfish at all! You are a concerned and scared Mum. Please let us know how you get on and feel free to rant if you would like/need to!

Harriet

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The dystrophy is just one of the tests they are doing. I think I would be very scared if it was the only test as its such a horrid disease. I have to pray, not that I am religious, that Ella does not have it. They are also testing for friedrichs ataxia. It's not clear at the moment. Xxx