Family speaks about trauma of daughter's 'Elephant Man' disease

Published on Wednesday 26 November 2008 09:09

A TEN-YEAR-OLD Edinburgh girl is battling a disease so rare that only 200 cases have ever been confirmed worldwide.

Lauren Kelly has been diagnosed with Proteus Syndrome – the same condition thought to have been suffered by "Elephant Man" Joseph Merrick.

Though she appears to be a normal youngster, the excruciating illness causes her bones to grow uncontrollably and her family knows it will only get worse and will ultimately take her life.

They told her story today as they complained of a six-month battle with the city council to secure a bigger house to care for her properly as her illness worsens.

Council chiefs have apologised for the delay, blaming staff shortages, and assured the Kelly family their case would be dealt with as a "high priority".

Gracemount Primary pupil Lauren, who was first diagnosed at Great Ormond Street Hospital in London four years ago, is said to be in constant pain already and often needs to use a wheelchair.

One of her feet is four sizes larger than the other and she faces a major operation next year with the prospect of several more to follow as medics battle to stunt the growth in her leg and rib cage. It is not known how successful that will be because the disease is so rare.

Her father, Scott, said today: "When she was diagnosed at Great Ormond Street it was devastating. It's so rare we just wondered 'why us?'

"She just can't get comfortable. On one side she is a few centimetres taller than the other.

"I walk her to school every day but we prefer not to use the wheelchair. Kids are cruel and she has already experienced some bullying as a result of her condition. If she was in a wheelchair on her way to school that would make her more of a target.

"We are just waiting anxiously. It's an impossible illness to predict."

For her immediate quality of life and that of her three siblings – Danielle, 12, Ronan, eight, and Imogen, seven – Mr Kelly says the family need to move from their Gracemount council house into a bigger property with a downstairs bathroom and specially kitted-out bedroom.

They have waited six months already, and could face a further six months before a council occupational therapist can conduct a needs assessment.

The 33-year-old, who has given up his job as a courier to help wife Sandra with Lauren's care, said: "She spends time in a wheelchair and even walking 200 yards to school can leave her breathless.

"She joins in as best she can, but she's in and out of school and often can't make it. Her muscles ache and she's already on the highest level of painkillers.

"A new house with downstairs facilities and an electric bed would make such a difference."

He added: "We've been on the phone to the council, but they can't see her lying on the couch in tears because she is in so much pain. We accept these things don't happen overnight, but something has to happen."

The family has seen more than 20 consultants in the quest to help Lauren, but progress can be slow and treatment is more about trial and error than anything else.

Jean Harrison, chairwoman of the Proteus Family Network, supports around a dozen sufferers and their families in the UK, including the Kellys.

"It is a dreadful disease which is extremely rare, and although estimates say 200 cases have been confirmed worldwide, we have slightly different methods of diagnosis and would put it at more like 100," she said.

A spokeswoman from the council said: "Due to staffing shortages, there has unfortunately been a delay with some assessments. We are actively trying to address this shortage and the Kelly family are on the high priority list."

ELEPHANT MAN MOST FAMOUS SUFFERER OF PROTEUS SYNDROME

PROTEUS syndrome is best known for being linked to "Elephant Man" Joseph Merrick.

Despite his appearance, most sufferers experience growth in the legs, arms, rib cage and sometimes internal organs, although skull deformities are possible.

Since it was first identified in 1979, it is reported that only 200 cases have been confirmed worldwide, though it is also difficult to diagnose.

Because of this, treatment and surgery is broadly guesswork and experimentation.

Great Ormond Street Hospital in London does have a specialist Proteus department, however, which is attended by sufferers across Europe.

The disease, which as well as deforming a sufferer causes extreme pain, is named after Greek mythological character Proteus, who could change shape. It is a terminal condition which can range in severity from just having one part of the body, like a toe, which experiences unusual growth, to a whole body growing out of control.