Diagnosis of ataxia & referral; individual experiences

‘"I just needed to know what it was, that I was not imagining it."

A diagnosis of ataxia is often long, slow and problematic. In 2007, Ataxia UK funded a project to explore individuals’ experiences of diagnosis.

A clear diagnosis enables individuals to explain their problem and helps others to understand.
‘It is a relief. Most people say, what the hell is that? And it’s good to be able to tell them’.

‘I couldn’t keep my balance, but thought it was just stress’.

And a definite diagnosis makes it easier to access the necessary help.

Long delays may occur between the onset of symptoms and diagnosis.

‘It has been a gradual process. This all started in 1976 and I got a diagnosis in the mid 80s.'

Most people were unhappy with the way they received their diagnosis. Often, it was not properly explained or even named.

It was suggested that the diagnosis should be given by a specialist neurologist or fully informed GP, possibly with the help of a specialist nurse.

Referral to accredited Ataxia Centres was rare, but those who attended found it extremely beneficial.
‘It’s better if you go to a specialist centre. You are better informed’.

An opportunity for further discussion, shortly after the initial diagnosis, should be routine.

People wanted the offer of genetic counselling, discussion on social care needs, both present and future, information about possible financial support and ready access to therapists and specialist nurses.

Information and support from Ataxia UK was very important.
‘You get more information in one support group meeting than they [doctors] can ever give you.’

Several patients found themselves educating healthcare professionals who looked after them about ataxia.
‘Even though they had ataxia written down, they didn’t know what effect it had.’

Recommendations:

define and distribute clear guidelines on what care and support people diagnosed with ataxia need

improve GPs and other clinicians’ awareness

improve the circumstances in which diagnoses are given and the help offered afterwards

make all patients aware of Ataxia UK as soon as a diagnosis is made

consider the needs of carers

Ataxia UK will be acting on some of these recommendations in order to improve the access to a diagnosis and ongoing care for people with ataxia.

This project was conducted by Nikki Joule and Ros Levenson, healthcare policy consultants. The issues were discussed at group meetings between individuals with ataxia and their carers in Peterborough (Ataxia–East group), Uckfield (East Sussex and Kent group) and Edinburgh (East of Scotland group).

Edited from an article in The Ataxian 161 Spring 2008

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Diagnosis of ataxia & referral; individual experiences