Some 25,000 people in the UK suffer from Neurofibromatosis, yet the majority of the population has never heard of the condition. EMMA BARNETT talks to one Hampshire woman living with the genetic disorder

FOR almost the first 20 years of her life, Janet Marland had no idea why her body was covered in coffee-coloured birthmarks or why she had small lumps under her skin.

When she reached her late teens, a new lump caused her to visit her GP, who assured Janet it was nothing to worry about, but still could not put a name to her condition.

It was not until she was living in Germany shortly after she married that the 42-year-old discovered she was suffering from Neurofibromatosis (NF).

She said: "I didn't associate the lumps with the birthmarks. It was only when my daughter, Helen, was about two years old I found out that it was hereditary and that I could pass it on.

"They do think it's something that happens when your hormones change, that's a trigger, but they don't know, they can't guarantee.

"It's one of the most common genetic disorders, but so little is known about it."

As she gradually learned more about NF, Janet found that the small nodules and larger lumps, called neurofibromas, under her skin were attached to her nerves.

Any growth in these lumps could affect her nerves, leaving her without the use of any of her limbs for a period of time.

Janet, of Parkside, Totton, said: "They're just there, but being attached to the nerves if I knock them I can get pain.

"It hasn't stopped me getting on with my life.

"It's only when I find the ones in my neck that cause me the most problems. It affects everything, loss of use of limbs.

"Silly little things, like when Helen was younger, crossing the road she used to hold my hand and she would let go and I wouldn't know. I could still feel her hand there.

"I can burn myself or cut myself and I wouldn't know that I'd done it. It's a bit awkward when you do lose your limbs, I can't even make a sandwich or put my hair up."

Janet, who works as a chef in The Birches nursing home and also part-time at the Co-op in Totton, has yearly check-ups and scans to monitor her condition.

If the lumps grow so much that they are severely affecting her nerves, an operation can be performed which gradually cuts them away.

Janet has had four such operations and just has to hope the lumps do not grow back.

But she is determined to carry on as normal a life as possible.

"When I was first diagnosed I did think, 'Why me? Why should I be different?' I was just on my own.

"People say to me, 'How do you cope?' and I say 'You just have to get on with it.' I ignore it and try to shut it out and get on with life. That's the way I handle it," she said.

People with NF can pass on epilepsy, learning and behavioural problems, hearing defects and a whole range of other symptoms to their children.

But, luckily, 18-year-old Helen is free from the condition.

Janet said: "When I was first diagnosed, that film came out, The Elephant Man, and that didn't help because he's got NF and all I had in my mind was 'I could have a child that looks like that.'

"There's a one-in-five chance of having a child with NF and I was lucky. I had the one in five that didn't.

"I decided not to have any more children and I was sterilised at 26. That was not an easy decision to make."

In a bid to find out more about her condition, and meet others like her, Janet became a member of the NF Association.

"I've been to a couple of their annual meetings, but most of them are ones that have got one or two generations with it.

"A small percentage of people that are born every year with NF are what they call a spontaneous mutation. In 50 per cent of cases, that's what happens.

"In the 20 years that the association has been up and running, I've only met two other people that are like me."

Janet has begun fundraising for the charity, which pays for research into the condition.

She said: "They've found the gene it's on, but they've still not found out where it happens and I think that's the question we all want to know.

"It's not going to beat me. We will find out, however long it takes. That could be the ultimate aim, or just to stop it and control the growth."

To find out more about NF, call the Neurofibromatosis Association on 020 8547 1636.