I am writing this tonight because I am working a 12 hour shift tomorrow at the hospital so will unlikely get a chance to.
When B was born over 13 years ago, I would never have dreamt that B would end up with an extremely rare condition called Ataxia Oculomotor Apraxia 1. When she was 3, I have never even heard of ataxia. There are a handful of children in the UK with her condition. A few hundred in the world.
Ataxia means "problems with balance/co-ordination" and it is a symptom. http://www.nhsdirect.nhs.uk/articles/article.aspx?articleId=2292§ionId=10
It is not a condition on its own. There are many types. Some children are born with a condition where ataxia is a feature and it doesn't get worse. Others get a condition, during childhood, such as B that is generally progressive in nature. Some are pure ataxias, others are part of a wider disease. Some people get an ataxic condition as an adult. Most are genetically inherited, it used to be mostly recessive in childhood, mainly dominantly in adulthood but nowadays its a mixed bag. B's particular type causes the cerebellum to shrink during early childhood causing her very wobbly body, causes her eyes to not move correctly and then due to a protein deficiency the DNA repair in her nervous system stops working so gradually she has lost/will lose complete sensory feeling and motor use between her brain and her arms and legs.
International Ataxia Awareness Day strives to raise awareness of all of this and to make known the amount of research that goes into helping those with progressive ataxias and to find reasons behind these faulty genes.
For more information on Ataxia conditions and the charities that support people like my B, go to
http://www.ataxia.org.uk/, http://www.atsociety.org.uk/ or http://www.ataxia.org/
Thanks for reading.
When B was born over 13 years ago, I would never have dreamt that B would end up with an extremely rare condition called Ataxia Oculomotor Apraxia 1. When she was 3, I have never even heard of ataxia. There are a handful of children in the UK with her condition. A few hundred in the world.
Ataxia means "problems with balance/co-ordination" and it is a symptom. http://www.nhsdirect.nhs.uk/articles/article.aspx?articleId=2292§ionId=10
It is not a condition on its own. There are many types. Some children are born with a condition where ataxia is a feature and it doesn't get worse. Others get a condition, during childhood, such as B that is generally progressive in nature. Some are pure ataxias, others are part of a wider disease. Some people get an ataxic condition as an adult. Most are genetically inherited, it used to be mostly recessive in childhood, mainly dominantly in adulthood but nowadays its a mixed bag. B's particular type causes the cerebellum to shrink during early childhood causing her very wobbly body, causes her eyes to not move correctly and then due to a protein deficiency the DNA repair in her nervous system stops working so gradually she has lost/will lose complete sensory feeling and motor use between her brain and her arms and legs.
International Ataxia Awareness Day strives to raise awareness of all of this and to make known the amount of research that goes into helping those with progressive ataxias and to find reasons behind these faulty genes.
For more information on Ataxia conditions and the charities that support people like my B, go to
http://www.ataxia.org.uk/, http://www.atsociety.org.uk/ or http://www.ataxia.org/
Thanks for reading.
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1 comment:
beautiful montage .. ( well what i saw through the tears ) ..
Thinking of you.. H went off to school wearing her awareness day Tshirt today .
I wish ... well you know what I wish .. xxx
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