‘Café au lait’ petition launched

Ella Rhodes reports on the launch of a petition calling for earlier recognition of a marker of a genetic disorder.

A health psychologist has been involved in launching a petition which calls for earlier recognition and recording of a marker of possibly the ‘most common rare genetic disorder’. Light brown café au lait patches (CALs) are a phenotypic marker of the neurogenetic condition neurofibromatosis type 1 (NF1) which cause tumours to grow on nerve endings and affects around one in 3000 people.

The condition can also lead to a wide variety of psychological and physical complications including learning difficulties, autism spectrum disorders, bone problems and disfigurement. Despite the CALs being an obvious marker late diagnosis is sometimes due to lack of knowledge of the condition. 

Health psychologist Carly Jim (Manchester Metropolitan University), whose own daughter Ellie has the condition, said many health professionals have never heard of NF1 and the CALs are often seen as bruises. She said this misdiagnosis of the marks has led to cases of parents being accused of child abuse.

Dr Jim and her friend Vanessa Martin, whose child also has NF1, launched a petition to incorporate a body map into the child health record (red book) which, she said, would serve as a flag if CALs are identified and ensure referral to the appropriate services.

Jim said Vanessa Martin had worked diligently to have the campaign recognised and it has been debated in the House of Lords. Jim’s own research has looked into the condition and she said: ‘I provided her [Vanessa] with a letter detailing the issues for her to use as part of her pack to parliament. I have also been consistently supporting her in an advisory role using my extensive knowledge of the condition and my research and psychological background.’

To sign the petition visit: http://tinyurl.com/nvzvlke to visit the Neuro Foundation website see http://tinyurl.com/q3mh9xh.


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