Genetic Ataxia: My daughter who is 11 years old... - Ataxia UK

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Genetic Ataxia

My daughter who is 11 years old has been ataxic since she was 13 months old. She attends a neurologist at our local children's hospital. After extensive investigation their has been no cause found for her Cerebella Ataxia except raised inflammatory blood markers. Genetic testing was carried out approximately 4 years ago, we are still waiting on the results. At the beginning of this year I had a sudden collapse which resulted in neurological symptoms. My neurologist initial thought this was a stroke, however on attending an out patient appointment with my daughter her consultant felt it more like I was affect by the same condition as my daughter. I have given him permission to access my notes. That's the background bit over.

My question to all you helpful people out their is ; In the world of genetic can a child be effected by a genetic condition before the parent carrying the gene mutation.

Thanks for your help.

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Hi Leona🙂 I can’t recall anyone mentioning this before. Is your Neurologist aware of your daughters condition? Since having the ‘suspected stroke’ are you noticing symptoms relating to ataxia? 🙂xBeryl

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My Neurologist is aware of my daughter's condition and initially felt this was not the cause with myself, however my daughter's neurologist has written to my neurologist and the genetic team at the Children's Hospital because occasionally their is a link with epilepsy (which I have) and ataxia. Since Jan I've been unable to use crutches which I've used for the last 20 years due to a foot deformity, tingling in my legs, hands & feet and unsteady when walking.

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Often, it’s very difficult and time consuming to differentiate Neurological conditions, many symptoms can ‘overlap’. And in the case of ataxia, although over 100 types have been identified, not all are yet at a stage where patients can actually be tested.

I was first thought to have Epilepsy, and it was an uphill battle to get anyone to see past it. Although I’d had only 1 seizure, deja vu had been a common symptom in the beginning. Even when dizziness, eye problems, poor balance and poor spatial awareness started, my GP had little interest. It’s true that some Ataxias are linked to Epilepsy, and I suspect that mine may be one of them, although I don’t yet know for certain.

Crutches must have been a lifeline but at the same time very tiring, and currently not safe, how are you managing to be mobile at the moment? And, how is your daughter?

Now that both Neurologists have access to family history, there’s a reasonable possibility that they may find some commonality between you and your daughter. This may not give an answer but it is a step forward 🙂xBeryl

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Thanks Beryl for your help. The crutches were a lifeline. At the moment I am using a large rollator (approximately elbow height) to mobilize but can't go very far due to fatigue, twitching etc. However tomorrow I've to be fitted for a Lyrica vest (which will hopefully have be marathon running) by my physio. All Christmas shopping is being done online this year thank goodness for the internet. I was recently dismissed from work due to ill health so I'm feeling a little isolated but I'm sure a more suitable position is just round the corner & I'm lucky enough that I'm husband is working and a great dad to the girls.

My daughter is doing fairly well at the moment, she uses either a wheelchair or a rollator to mobilize. At school he uses a scribe, computer (typing is difficult for her) or voice recording. She'll go to high school in August and the transition period has started already. We has a meeting with the duty head and head of year yesterday, sounds like the school will do the best they can.

We weren't at this years conference but were there on previous years.

Thanks again & take care.

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I know of one incidence where this has occurred in a family but it concerned the malignant melanoma gene. The son contracted malignant melanoma several years before his mother. it was later identified that a faulty gene had been passed from mother to son.

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It is possible. Because my ataxia is late onset people often don't show any symptoms until 50's, 60's or 70's, but I showed symptoms (I have it by far the worst in my family) in my 20's In fact I got the condition from my father, and I am in a wheelchair now, but he only shows very mild to no symptoms. He certainly would never go to a GP or neurologist with his very mild symptoms.

However 13 months does not seem to adhere to the normal "late onset" ataxias.

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Thank-you for your help with this query.

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Hi Leona,

I hope you are well.

I am new here and am looking into hereditary/genetic links with ataxia as it runs in my partners family. He does not have it but his mum and aunty do and as we are looking to start a family, I want to do my best to educate myself on the hereditary genetics.

Did you find out whether you too had ataxia that had been dormant?

Were you aware of any past family history of the condition or whether you were a carrier or not?

Many thanks

Sunny

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Morning Sunny, since my initial post it has been found that both my daughter and I have been mutation ATP1a3. This gene mutation this gene has caused both our ataxia. I am not aware of any other family members having this condition although it is a dominant gene.

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Hi Leona,

Thank you for taking the time to reply.

I hope you are your daughter are doing as well as you possibly can following your diagnosis.

<3

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