Ain't no mountain high enough for Ataxia patient 

06/01/2015 00:00 
A young patient with a rare and life-limiting genetic disease which has no treatment or cure fulfilled his dream to ascend Mount Kilimanjaro in a mountain trike – with the help and support of staff at UCLH.

Consultant Dr Paola Giunti from the NHNN harnessed the help of specialist colleagues to mastermind the expedition. Their efforts gave 27-year-old Iain Fryatt from Erith in Kent the best chance of becoming the first person with Friedreich's Ataxia to reach the 5895m summit.

Dr Giunti said: “We were over the moon to hear that he reached the top safely and achieved what he set out to do. It is our mission to give all our patients the opportunity to live a life that is as full and independent as possible – and to help them fulfil their dreams. We take pride in our holistic approach backed up by robust and scientific research.”

Dr Giunti arranged consultations with uro-neurology expert Jalesh Panicker, cardiology expert A Pantazis and speech and language therapists from the Ataxia Centre. Prof. Hugh Montgomery from UCL, who is an expert at the effects of high altitude on clinical conditions, was also consulted, and muntain medic Dr Nick Haslam made sure that Iain was healthy enough to face his big challenge.

His dad Graham Fryatt said: “The adventure has changed Iain completely and it has given him so much confidence. He now realises that if he really wants to do something, there are few limits.”

He praised Dr Giunti and the Ataxia team for the magnificent Ataxia service. “I would like you to pass on my thanks and gratitude, they have helped set Iain back on the path towards rehabilitation and assisted him in living life to his full potential,” he added.

During the ascent, Iain was accompanied by Dr Haslam. The Scale for the Assessment and Rating of Ataxia (1) created by Dr Giunti and other  colleagues was used to monitor any possible deterioration of Ian’s ataxia during the ascent. Supplementary oxygen and a portable cardiac defibrillator were included in the expedition medical kit as a precaution.

The Ataxia Centre at NHNN offers a fully integrated service encompassing clinical research and assessment, diagnosis, molecular genetic testing and counselling for ataxia. Friedreich's Ataxia causes nervous system damage, speech and movement problems which worsen over time. 

Levels of the protein frataxin are low in patients with Friedrich's Ataxia. In May 2014, the medical journal 'The Lancet' published work which showed that nicotinamide (a form of Vitamin B3) increases these levels, and that this might help patients. A bigger trial is planned.

Dr Giunti is supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre.

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