Paralympic glory for NHS patient 

25/09/2012 00:00 

A young patient from the National Hospital for Neurology and Neurosurgery (NHNN) who suffers from a rare and incurable neurodegenerative disease has overcome overwhelming odds to become a star in the London 2012 Paralympic Games.

 

Helen Kearney, 23, who uses a wheelchair due to a genetic and progressive disease called Friedreich’s ataxia, won one silver and two bronze medals in the riding dressage event. One of the main symptoms of the condition is unsteadiness.

Helen, who was diagnosed at the age of ten, said: “Friedreich’s Ataxia is a tough realisation to be left with, one which doesn’t get any easier with time. Horse-riding and competing in Para Equestrian sport has given me so much of what this rare disease has taken away.”

Helen travels from her rural home in Ireland to the National Hospital for Neurology and Neurosurgery in London’s Queen Square – one of the few specialist centres in the UK for the treatment of patients with ataxia.

The centre’s coordinated and holistic approach was pioneered by consultant neurologist and lead researcher at UCLH/UCL, Dr Paola Giunti and includes diagnosis, genetic counselling, symptomatic treatment, support and translational research trials. It works closely with the charity Ataxia UK.

Dr Giunti said: “We offer our patients holistic, personalised care which aims to help them achieve as fulfilling a life as possible by supporting them emotionally, as well as helping improve symptoms through medication, occupational therapy, speech and language and physiotherapy. We also offer to all our patients participation in research projects relevant to their illness.

“We are very, very proud of Helen and over-the-moon that one of our patients has demonstrated such determination and is such a great example to others. Ataxia is a very rare condition with very distressing symptoms and although research has identified the genetic defect responsible and how it manifests itself as a neurological condition, there is currently no cure. We are pinning our hopes on a research breakthrough to help Helen, and patients like her.”

The NHNN Ataxia Centre, the first centre to be awarded as a centre of excellence by Ataxia UK, is very active in basic research and also in clinical management for our patients.

Helen is one of more than a hundred NHNN patients who have signed up to a Pan-European clinical research register which records changes in their co-ordination and mobility. The research register, funded by the European Commission, is part of the research project  entitled “European Friedreich’s Ataxia Consortium for Translational Research” (EFACTS) and  involves 18 centres in seven European countries.

The clinical data will lead to a better understanding of the condition and its progression and provide essential background knowledge for developing new treatments to test in clinical trials.

Helen added: ”Participation in research is vital for me and makes me feel part of a project - just like taking part in the Paralympics. It allowed experts in the field who are researching treatments for this rare condition to assess my condition and reassure me that I was doing everything possible to keep myself well”.

Note:

* Ataxia is a group of more than 100 neurodegenerative disorders caused by brain damage as a result of disease or faulty genes.

People affected by ataxia lose their physical coordination and balance, and often develop tremor, uncontrollable muscle spasms, as well as vision and speech defects. Some forms of ataxia also affect the heart and increase the likelihood of other serious complications, such as diabetes, blindness, and curvature of the spine. Progressive Ataxia affects an estimated 10,000 adults plus an unknown number of children. For more information visit http://www.ataxia.org.uk/

 

 Latest news

 Contact details

Communications unit
2nd floor central
250 Euston Road
London NW1 2PG

Media enquiries

Switchboard: 020 3456 7890
Media enquiries: 020 3447 7542 / 020 3447 9506
Email: uclh.media@nhs.net

Out of hours
The normal working hours for the Communications Unit are Monday to Friday 9am – 5pm. The only media enquiries that will be answered outside of these working hours are urgent enquiries and those relating to major incidents. To access the out-of-hours service call switchboard on 0845 155 5000.

Share this story