Health Care in A-T
While there are currently no licensed treatments to modify the progress of A-T, and in particular the neurodegeneration, there is much that can be done to improve the health of a person with the condition.
Much ill health and many deaths from A-T occur as a result of lung and respiratory problems. However, careful monitoring and proactive and aggressive treatment of infections can significantly improve the clinical picture. Immunoglobulin replacement therapy and prophylactic antibiotics are often used in this context.
Many health problems in A-T are exacerbated by the individual’s being under-weight. Again, this is an area that can be monitored closely and where action can be taken. Sometimes the fitting of a feeding tube can play an important role here.
Postural problems and scoliosis can also contribute to poor health; these too can be treated.
To guide those caring for someone with A-T who don’t have experience of the condition, the team in Nottingham produced a guidance document on clinical care in 2014. While this is primarily about treating children, most of the guidance is also applicable to adults. A document on treating A-T in adults is currently in preparation. The clinical guidance document Ataxia-telangiectasia in children sets out in detail the assessments and the care that a child with A-T should recieve.
Detailed guidance can be found in the guidance document itself, however, we strongly recommend the following form part of the care package:
- Respiratory care: A respiratory review at least every three months, and more frequently if the child is unstable.
- Neurology: A paediatric neurodisability review at least every 6 months, and more frequently if the child is unstable. A local paediatric neurology review at least every year, or more often if support is needed by the neurodisability paediatrician.
- Immunology: In those children where recurrent infections are related to immune deficiency, local immunologist input is recommended. This is essential for children who may need to commence immunoglobulin replacement therapy.
- SLT and diet: Regular assessments by a speech and language team, and also dietetic review.
- Physiotherapy: Regular assessment and review.
- Occupational therapy: Regular assessment and review (particularly when symptoms change).
The UK A-T Service
The UK has a national A-T Service involving the paediatric specialist centre at Nottingham City Hospital, the adult specialist centre at Royal Papworth Hospital, the A-T Society and, for diagnosis, the laboratory of Professor Malcolm Taylor. Children with A-T are seen at the clinic at Nottingham soon after diagnosis and then around every 3 years for assessment and treatment recommendations. Between these visits they are treated by local teams. Adults are seen about once a year at the Papworth clinic, with other care provided locally.
People with A-T from the EU can attend the clinics if their health provider agrees to pay for it. This is normally the case for people in the Republic of Ireland, many of whom regularly attend the UK clinics. Other non-UK-residents can pay to attend although it is not cheap. Please contact the A-T Society Support team on 01582 760733 or via email for more information.