The disease that gets under a family’s skin

When Kathleen Buckley (57), a mother-of-five living in Tralee, tells people she suffers from neurofibromatosis (NF), “they look at me as if I have two heads”.

Out of her family of 15, nine of them have the genetic condition including her 34-year old daughter, Anna, and Anna’s 10-year-old daughter, Rebecca.

NF 1, which affects one in 2,500 people, is a genetic disorder that causes tumours to form on nerve tissue. These tumours can develop anywhere in the nervous system, including the brain, the spinal cord and nerves. The condition is usually diagnosed in childhood or early adulthood. The tumours are usually benign but can sometimes become cancerous. Symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves and scoliosis. (NF 2 is a rarer and more serious condition.)

It wasn’t until Kathleen was 26 that she got her diagnosis. “I had all these weird little lumps all over my body. Some of them are sore and some got very big and had to be removed. I have the lumps all my life but didn’t take much notice of them. I had scoliosis as well. That was very bad. I had to have two major surgeries on my back. The first one was 18 years ago. After that, the doctor took the bars out of my back.

When the surgery was being done, some of my nerves were accidentally hit

“But a couple of years afterwards, I started going to the side again. I had a new doctor at that stage who sent me for further X-rays. My spine had curved more and I had surgery about four years ago. My back is fine but when the surgery was being done, some of my nerves were accidentally hit so that now, I have permanent damage down my left leg. I can’t describe the pain. I use a zimmer frame to get around. Sometimes, I have to be catheterised because the pain gets so bad that I can’t go to the toilet. I use morphine patches which ease the pain. If I keep moving around doing things, it takes my mind off the pain.”

‘Really suffering’

Kathleen says that Anna has been “really suffering in the last few months”. “She has some kind of growth on her side and is waiting to see a doctor in Cork. Rebecca has a curve in her spine and her speech is affected as well. She has a special needs assistant to help her at school.”

Kathleen’s mother and grandmother had NF. “My mother’s lumps were very big. She used to scratch them so much they’d bleed. When I saw my lumps, I realised I had the same thing as my mum but we had no clue back then what it was.”

The weather impacts on Kathleen’s condition. “I can’t stay out in the sun for long because I have a couple of lumps that get very sore from heat. The wet weather drives me crazy pain-wise.”

The lumps on Kathleen’s face and body are small but the ones on her hands are fairly big. “I have to wear make-up when I’m going out. But at least the people that know me don’t take any notice.”

Shannon Brady (16), who has NF1, was diagnosed with the condition at six months. Her sister, brother and father also have NF1. Shannon tries not to let it take over her life. She was treated for scoliosis in 2012.

It took a long time to recover from it. I missed half of sixth class

“I’m now more active and can do more things. I do Taekwondo, I can stay over in friends’ houses and go on school trips. The scoliosis operation was well worth it. It took a long time to recover from it. I missed half of sixth class.”

Shannon was diagnosed this year with her third benign brain tumour. She complains of headaches. “I try not to let my (medical condition) affect me. I just get on with my life and do what I want to do...I have spots on my skin, legs, arms, stomach and back but not on my face. I’m not self conscious about the lumps. At school, everyone knows what I have. But I would like people to be more aware of NF. I go to Dublin once a year to meet other people from the Neurofibromatosis Association. You get to talk about it and learn about all the effects of it. I know loads of people with NF. They’re older than me.”

Pain-free

Apart from headaches, Shannon is pain-free since her scoliosis was corrected. She says her father, her brother and sister “are all fine. NF doesn’t affect them much”.

For years, Shannon was frequently sick. “I’m actually fine now. This year is my best year so far. When I have a headache, I try to leave it as long as I can before taking painkillers. I have definitely developed a high pain threshold.”

Professor of medical genetics at Crumlin Hospital, Dr Andrew Greene, sees people with all kinds of genetic conditions. NF is one of the more common conditions. It has been recognised since the late 19th century when a German doctor, Friedrich Daniel Von Recklinghausen, described the condition. For years, neurofibromatosis was known as Von Recklinghausen Disease.

“People used to confuse it with what the ‘elephant man,’ had” says Dr Greene. “But Joseph Merrick had a much more serious condition called Proteus Syndrome. Unfortunately, this confusion has given NF very bad press. Most people who have NF don’t have anything like the problems the elephant man had.”

A couple of thousand people in Ireland have NF1. "Quite a lot of people who have NF1, from 50 per cent to 70 per cent, will simply have brown patches on their skin which don't necessarily cause any problems. They can have benign lumps on their skin; not as children, necessarily, but later on in teenage and adult years. There may be 15 to 20 of these lumps. And for a lot of people, that's it. Some may never have been formally diagnosed. Some people have surgical procedures to remove the lumps and it's often fairly straightforward."

But there can be more serious conditions in people with NF. “Some children with NF develop curvature of the spine known as scoliosis. That happens in 5 per cent to 6 per cent of cases. It’s a difficult thing to manage. It usually manifests itself in children and is not likely to happen to adults. There are children with NF who’ve had bone overgrowth. That can lead to pseudarthrosis (meaning if a bone fractures, it’s unable to mend without intervention). Their joints are affected. Most commonly, it happens in the ankle or the foot.”

Interfere with vision

Some children can get benign tumours that grow on the nerves from the eyes. They’re called optic gliomes and can interfere with vision. Symptoms like this can be treated. Other people can get over growths in particular parts of their bones and quite a lot of children with the condition can have problems with their education. “They can find it hard to keep up and need more educational resources than other children. Obviously, not everyone with NF needs additional educational support.”

If a child has six or more “cafe au lait” or brown “tea stains” on their body, he/she should be checked out. “These usually develop within the first few years of life. Lots of children would have one or two of these spots and never get any more. If concerned, parents should take their child to their GP and potentially to their local paediatrician. Genetic testing is not that important. The criteria for NF are clear clinical diagnoses. Genetic testing is not done routinely on people with NF. It doesn’t change the management of the condition.”

Dr Greene says that at the moment, there isn’t a specific treatment for NF. “It’s not like there’s a specific medication. For children with NF1, who are otherwise well, they are reviewed once a year by their doctor and a paediatrician. They’re also seen by an eye specialist to make sure there isn’t a problem with their vision. If there’s concern over a child’s development, they can get additional developmental resources like psychological assessment or schooling resources. For a healthy child [with NF1] there’s no real need to keep doing regular scans if they are otherwise well.”

Self-conscious

Having NF can make people self conscious. “Some may choose to have particular lumps removed from their skin. Others are not bothered by it.”

A serious side effect of NF can be narrowing of the arteries which can lead to high blood pressure. “It’s important that people with NF get their blood pressure checked regularly, including children.”

They can also develop other benign tumours inside their brain and sometimes on the spine as well

In cases of NF2, Dr Greene says there isn’t usually a major skin problem. “People with NF2 develop benign tumours that happen inside their head close to the hearing nerve. That can interfere with balance and hearing. They can also develop other benign tumours inside their brain and sometimes on the spine as well. They may need surgery to have them removed. It’s often quite complex because the benign tumours are occurring in very particular areas. There are a small number of families in Ireland who have NF2. Some will manifest it as teenagers. That can be quite serious. Others will not manifest it until their 20s, 30s and 40s. As a result of having surgery, a small number of people end up with complications affecting the nerves in their faces. So that can be difficult.”

Dr Greene says that there are “lots of people with NF 1 whose lives are not particularly impacted whereas NF2 impacts people a lot more”.

The level of awareness is not where it should be as NF is more common than many people realise and it’s something that’s probably under-diagnosed. One of the big issues for patient support groups like the Neurofibromatosis Association of Ireland is raising awareness.”

An NF Fighter Campaign was launched in March and will culminate on May 17 which is World NF Day. See nfaireland.ie

FACTS ABOUT NF1:

NF1 is a common genetic condition

The ‘spelling mistake’ in the gene is found on chromosome 17

It occurs in every 1 in 2,500 of the population

The early signs of NF1 are flat brown birthmarks on the skin, freckles in unusual places and lumps and bumps on the skin

One third of people with the condition will have one or more medical complication during their lifetime.

Mild learning difficulties are common in NF1.

FACTS ABOUT NF2:

NF2 is a rare genetic condition

The ‘spelling mistake’ in the gene is found on chromosome 22

It occurs in every 1 in 35,000 of the population

NF2 is usually diagnosed by MRI scans

In NF2, people develop nervous system tumours typically in the brain and spine

NF2 can cause hearing loss, deafness and mobility problems.