Teenage girl whose limbs dislocate up to 18 times a day, begs health bosses for treatment funding
Phoebe Bruce has a genetic condition that means her collagen is too weak to hold her limbs in placeShe is regularly rushed to A&E following agonising dislocationsSuffers at least one dislocation a day
15:25 GMT, 23 August 2012
A teenager has a rare genetic condition that means even a yawn can cause one of her arms or legs to dislocate.
Phoebe Bruce, 17, from Hawarden, can be left screaming in agony up to eighteen times a day.
She has a condition called Ehlers-Danlos syndrome which means her collagen is too weak to hold her limbs in place. Every day of her young life, she has suffered at least one dislocation.
But earlier this year the attacks increased dramatically and now she is trapped in a daily nightmare of being rushed back and forth to A&E – sometimes waiting up to seven hours to be seen at a time and at other times having paramedics called to her home.
Phoebe Bruce is in agony from at least one dislocation a day – and her condition is worsening
Her desperate parents Yvonne and Richard have been waiting a month for health bosses to decide whether to agree to fund treatment at a specialist private hospital in London.
Because she lives in Wales, it is up to the Welsh Health Specialised Services Committee to decide if she gets the money.
In one of her worst attacks, the family tried to go to the Lake District for a holiday and Phoebe suffered 18 dislocations in one episode.
'I can put my other limbs back in,' she said.
'But my arms are coming out every day and they are the ones that get stuck out – there’s no way I can move them.
'Anyone with my condition – it’s a coping thing – and you just have to try and deal with it, knowing that you are going to have multiple dislocations in a day.'
Brave Phoebe inherited the condition from her father Richard, who has the same genetic disorder, but in a much milder form.
She told how the condition, diagnosed a few months after birth, has led to her being all but confined to her own home.
'I have always had at least one dislocation a day in my life, it is very painful,' she said.
'It’s as painful as a normal person getting a dislocation, but my limbs will also twist,' she said.
'But it has been getting more and more each day. I have a wheelchair to take me round school and teaching assistants with me.
'We recently went to Asda for a day trip, but then my shoulder and back went, and I couldn’t move, I was stuck in the middle of Asda and they had to call an ambulance and I ended up in A&E. But the paramedics are fantastic with me. They all know me.'
Phoebe, a talented artist, is trying to study for her A levels in art, psychology and media, but has been hindered by having her arms in casts for a year.
But she has still managed to get two AS levels in Art and Media.
Phoebe with her parents Yvonne and Richard who are trying to get her treatment in London
Phoebe’s mother Yvonne first raised the question of whether she could get specialist treatment at the Hypermobility Unit at St John’s and St Elizabeth’s, about four months ago.
Phoebe is currently being treated at Alder Hey in Liverpool. Her case was referred to the WHSSC a month ago as no NHS trust can make a financial decision about a Welsh patient.
Her family have been counting the days ever since – with a decision expected tomorrow they are pleading with NHS bosses to help change her life.
Yvonne said: 'We have been told this is the most extreme case they have seen. The process for funding has been too slow. It’s taken a long time. It seems to have gone round in circles.
'We have been told they would accept her at the London hospital, but because she lived in Wales, she couldn’t be funded from England. The clinic in London will asses her to see what can be done, and they can train her to put her joints in herself, and pain management.
'It’s terrible witnessing your daughter in such pain. The school call the ambulance virtually every day because she has dislocations.
'We are always at A&E, and me and Richard take it in turns to be on duty to take her to the hospital so we can keep our jobs going. I work at Asda and Richard at Airbus, and they have been very understanding.
'With Phoebe, for her it’s like having a baby every day with the pain she is going through.'
There are also talks about the possibility of pioneering surgery on Phoebe to put in artificial strengthening into her limbs. But there are risks.
Her aunt Barbara Sheady has also been very supportive when her sister Yvonne has been in tears.
Barbara said: 'You wouldn’t treat a dog like that. Unfortunately Phoebe gets taken to theatre, sedated and joints reconnected and sent home often to be readmitted within hours.
'The doctors who treat her do not know what to do, her use of morphine is having an effect on her kidneys, and malnutrition due to loss of appetite.
'Phoebe has a consultant doctor in Alder Hey childrens hospital who has monitored her condition and has recently stated it is the severest case he has come across in UK.'
An Alder Hey spokeswoman said they couldn’t comment on individual cases.
The Welsh Government and Betsi Cadwaladr University Health Board said it would be up to the WHSSC.
Mark Isherwood AM, who has looked into their case, said: 'This is a young woman suffering immense pain and dealing with a damaging condition. I just hope they make right the decision on Thursday.'
Nobody was available from the WHSSC to comment yesterday.
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders.
It is caused by a defect in the body’s manufacture of the protein collagen.
Collagen is often referred to as “glue” in connective tissue and helps to resist deformation in the body.
It plays a very significant role in the skin, joints, muscles, ligaments, blood vessels and visceral organs.
Abnormal collagen leads to increased elasticity within these structures which can lead to limbs dislocating.
Depending on the individual, the severity of the disorder, it can vary from mild to life-threatening. There is no cure, and treatment is broadly supportive.
Physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS.
The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.
The exact incidence is not known, but is estimated at 1 in 5000, however, research is showing it is more common.