In April 2012 Royal Papworth NHS Foundation Trust was commissioned by the National Specialised Commissioning Team to provide the National Ataxia Telangiectasia (AT) service for adult patients.
The Respiratory Support and Sleep Centre at Royal Papworth Hospital has been managing patients with AT for many years, however national recognition and funding will allow us to develop the service and provide the best possible care. Paediatric services will continue to be provided by the team lead by Dr Mohnish Suri at the Nottingham City Hospital. It is planned that patients will transition between the ages of 16-18 from the paediatric to adult service. Special clinics at Nottingham City Hospital will occur to facilitate this process.
Ataxia Telangiectasia is a rare, progressive, multi-organ, neurodegenerative disorder characterised by cerebellar ataxia, immunodeficiency and increased risk of malignancy. Two major forms of the disorder ‘classical’ and ‘variant’ AT are recognised. Classical AT tends to present in early childhood and cause more disability. Variant AT has a variable presentation and generally milder symptoms. AT is an inherited disorder. Two faulty copies of the AT gene need to be present for AT to occur. The AT genes are required to create an enzyme which is vital for DNA repair. The activity of this enzyme in cells can be measured. In classical AT the mutations to the AT genes lead to a complete loss of function within the cell of the enzyme leading to a more severe form of the disease. In variant AT some enzyme function is retained leading to less severe symptoms.
Patients with AT develop difficulty with balance and coordination. This limits mobility, may impair the ability to communicate and cause difficulties with the usual activities of daily living. Often swallowing becomes impaired leading to increased risk of aspiration and serious respiratory problems. Faults in the immune system may lead to recurrent infections. There is no cure for AT however with careful assessment by specialists within a multi-disciplinary team we aim to identify clinical problems and intervene to improve quality of life and reduce the risk of serious medical complications.
The multi-disciplinary team (MDT) at Papworth Hospital includes a consultant respiratory physician, immunologist, neurologist, physiotherapist, occupational therapist, speech and language therapist, dietician and social worker. New patients are thoroughly investigated to identify all the clinically relevant problems that may be associated with AT. This assessment includes: A CT scan of the chest, video fluoroscopy to assess swallowing, an evaluation of nocturnal ventilation, lung function testing and blood testing to investigate the immune system. Patients’ cases are discussed within the MDT and recommendations made for future care. The results of all investigations are fed back to the patient, carers and primary and secondary care physicians involved in the patient’s care. An annual follow-up will be offered for review and tests repeated as clinically indicated. The team are happy to provide further support as required. For further information regarding the assessments under the care of the Papworth Adult Ataxia Telangiectasia service please see our patient information leaflet.
The Papworth Adult Ataxia Telangiectasia Service maintains close links with the AT Society holding regular meetings to receive feed-back on how to continually improve the service. We undertake research to improve the evidence base in this rare disorder and optimise clinical management. Our aim as the national centre is to increase the understanding and awareness of AT and establish effective interventions and treatments.