The publication of the first ever clinical guidance on the treatment of ataxia-telangiectasia was enthusiastically welcomed by clinicians, therapists and families living with the condition. Ataxia-telangiectasia in children: Guidance on diagnosis and clinical care was produced by members of the multidisciplinary team from the A-T Specialist Centre at Nottingham City Hospital, the University of Birmingham and the A-T Society.
Ataxia-telangiectasia is a rare genetic multi-system neuro-degenerative disorder, which from early childhood leads to increasing physical disability and significantly shortens lives. It affects some 200 children and young adults across the UK.
The complexity of A-T means that each child is seen by a wide range of clinicians and therapists, but its rarity means that very few will know anything at all about the condition and information on the course of the condition and its treatment is scattered and fragmentary.
This guidance will ensure that for the first time there is a shared understanding of the symptoms and progress of the condition and a consistent approach to treating it, based on the experience of the world’s longest-established multi-disciplinary A-T clinic.
The document is primarily aimed at clinicians and other health professional who have little first-hand experience of treating A-T. However, it will also to be used by those caring for children with A-T to ensure that they are receiving the best possible care.
The guidance will be promoted internationally, via the A-T Clinical Research Network and the upcoming A-T Clinical Research Conference in Nijmegen in November 2014. It is likely to be received with great interest as this is the first document of its kind.
In addition to covering the key clinical areas of genetics, neurology, respiratory care, immunology and treating cancer the guidance looks at physiotherapy, dietary management and the implications of undertaking surgery in people with A-T.
Welcoming publication of the document William Davis, chief executive of the A-T Society said:
“This is a hugely important document and a very big step forward for children and families living with A-T. When all children with A-T are receiving the regular monitoring and care set out in this guidance, I am confident we will see major improvements in quality and length of life. I particularly welcome the guidance on respiratory care, which I believe could deliver some of the advances seen in treating conditions like cystic fibrosis.”
Sinead Ward, mother of four-year-old Orla who has A-T said:
“I’m really happy that this guidance has been produced. I talk to other parents and we often know more than the professionals treating our children. This booklet should change that. It is there in black and white how and when my daughter should be examined and treated. Like any parent, all I want is the right treatment for my daughter!”
Dr Mohnish Suri, Director of the A-T Specialist Centre at Nottingham City Hospital said:
“I am delighted to see this document published and to be able to make the experience we have built up at the world’s longest-standing A-T clinic available to clinicians and therapists across the country and indeed beyond. The consistent and focused approach this guidance advises should deliver real advances in the care of children with A-T and real improvements to their lives.”
Alastair Kent OBE, Director of Genetic Alliance UK said:
“The UK Strategy for Rare Diseases is demanding much greater coordination between national specialist centres and local teams and the development of shared protocols. This guidance document on A-T is an excellent example of how this can be done, and of what can be achieved by professionals and patient groups working together. I warmly welcome it.”
Source: The A-T Society