The dizzy spells that mean you need to see the doctor
02:29 GMT, 14 August 2012
Nigel Kilvington was on holiday in Lanzarote with his wife Hazel when he realised something was not quite right with his balance.
‘I noticed I was wobbling while going up and down stairs,’ he says.
‘My balance felt off and then my speech was slurring a little.
Ataxia is Greek for 'lack of balance or order'. There are at least 50 types – many of which are rare
‘It was worrying, but as Hazel is a nurse we knew it wasn’t an emergency because the symptoms had not happened suddenly.
'We wondered if it was the heat.
‘I felt fine in other respects, so I didn’t seek medical attention in Lanzarote — I waited until I got home a few days later,’ says the 44-year-old, who works for U.S. bank Citigroup in London.
At home in Brentwood, Essex, Nigel visited his GP.
Four years — and many tests — later, the father of one was diagnosed with Friedreich’s ataxia, a neurological condition that affects co-ordination, balance and speech.
Today, he uses a stick to walk.
Ataxia is Greek for ‘lack of balance or order’.
There are at least 50 types — many of which are rare — but Friedreich’s is one of the more common and is caused by a gene defect.
Ataxia is a progressive condition affecting the cerebellum, the area at the base of the brain that affects movement and balance.
In cases of Friedreich’s, it also affects the spine and nerves along the body.
More than 10,000 adults in Britain have some type of ataxia, but there are thought to be thousands more suffering from it who have never been diagnosed, says Dr Julie Greenfield, research projects manager for Ataxia UK.
‘GPs often think it is an inner ear problem such as an infection because of the upset of balance.
‘Even if they do diagnose ataxia, the problem is pinning down the right one.
'There are genetic tests for some of them, but not all, and it can take years for some people to be diagnosed properly, which can be frustrating for the patients.’
Even if GPs do diagnose ataxia, the problem is pinning down the right one
Nigel’s experience was typical.
When he first went to see his GP in 2002, he was told he most likely had multiple sclerosis.
He was referred to a specialist and underwent a series of blood tests as well as nerve conductivity tests — where an electrical current was passed up and down his legs to see how long it took for his brain to register it.
He also had a lumbar puncture (where a needle is inserted into the spinal canal to collect fluid) and MRI scans.
‘The specialist had warned me not to look up my symptoms on the internet because it was bound to say I had a brain tumour — and we knew from the MRI scans that wasn’t the case.’
Two years after his symptoms appeared, Nigel’s consultant suggested he might have ataxia, but dismissed the idea as the usual age of onset is adolescence, and Nigel was then 38.
It took another two years for the ataxia diagnosis to be made.
‘It was a relief to find out what was wrong,’ he says.
Dr Greenfield says: ‘The average age for someone to develop Friedreich’s is 15, but some people aren’t diagnosed until they are 60, even though they have been suffering from it for many years.’
During those four years of waiting for a diagnosis, Nigel’s symptoms had worsened.
‘Once as I was coming down the stairs at work and Hazel was in front of me she noticed two men make way for me deliberately.
‘I was sure I’d fallen into them before and they’d remembered and moved out of the way.
‘My consultant sent me to the National Hospital for Neurology for a second opinion and the diagnosis was confirmed.
‘I was worried about the future and if I would be around to provide for Hazel, especially as she had just found out she was pregnant.
'But I was reassured that while there is no known cure, the days of being diagnosed at 15, in a wheelchair by 20 and dead at 25 were long gone.
‘With the progressive nature of the condition, I know I’ll need a wheelchair one day.’
For Nigel, the main problems are his balance and speech.
‘For a long time I didn’t want to admit that anything was wrong, but in the past two years I’ve had to start using a walking stick,’ he says.
‘I can only describe the balance problem as permanently having the sensation you get when you’ve stood up too quickly and you’re not steady.
‘It’s frustrating being slower to speak than everyone else. I tire much more easily and my speech gets worse in the afternoon.
‘Before I had the stick, some people suspected I might be drunk.
'Even my four-year-old daughter Rachael accused me of being drunk the other day!
'But I’ve not faced any discrimination and now I have the stick it’s more obvious it’s a health problem.’
He says playing with his daughter is very difficult.
‘Instead of hide and seek, I can take her to gymnastics and swimming.
'She is aware there is a problem because she tends to give me longer to do things and tends not to jump on me as much as she would with other people.
‘It’s such a slow, progressive illness that I’d say I’ve been fortunate with how little I’ve deteriorated. I’m still able to drive and work full-time.
'But I do worry what the future holds.’
Nigel is taking part in a European-wide trial of a drug called idebenone.
The drug is a man-made antioxidant — similar to a naturally occurring compound called coenzyme Q10, says Dr Greenfield.
‘In Friedreich’s ataxia, the patient develops an accumulation of free radicals, molecules which damage the cells.
'It’s thought that these antioxidants mop up these free radicals and stop them damaging more cells.’
This lack of knowledge among the medical profession about ataxia frustrates sufferers — Nigel has volunteered to be a patient during doctor’s training.
Meanwhile, he refuses to let the condition rule his life.
‘I have to remind people that ataxia will not kill you.
'You can have a normal life — it’s just slightly different from other people.’
Contact ataxia.org.uk or 0845 644 0606.