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Limb dislocation: Phoebe Bruce's Ehlers-Danlos syndrome treatment Limb dislocation: Phoebe Bruce's Ehlers-Danlos syndrome treatment
(about 9 hours later)
A teenager with a rare medical condition which causes her limbs to dislocate is beginning specialist treatment. A teenager with a rare condition which causes her limbs to dislocate is starting specialist treatment.
Phoebe Bruce, 17, from Hawarden, Flintshire, has Ehlers-Danlos syndrome, a genetic condition caused by a defect in the body's protein collagen.Phoebe Bruce, 17, from Hawarden, Flintshire, has Ehlers-Danlos syndrome, a genetic condition caused by a defect in the body's protein collagen.
She will see a specialist at Stanmore Hospital in London after the Welsh government agreed funding for her care. She was given an appointment with a specialist at Stanmore Hospital in London after the Welsh government agreed funding for her care.
Her father Richard said: "This is what we have been fighting for".Her father Richard said: "This is what we have been fighting for".
The family won funding for specialist consultations for the sixth-former after they made a public appeal in August.The family won funding for specialist consultations for the sixth-former after they made a public appeal in August.
Then, Phoebe was experiencing up to 18 painful dislocations a day and she had to go to A&E about 60 times for treatment.Then, Phoebe was experiencing up to 18 painful dislocations a day and she had to go to A&E about 60 times for treatment.
But now, with intensive physiotherapy at the Countess of Chester hospital twice a week, Mr Bruce said that Phoebe suffered far fewer dislocations.But now, with intensive physiotherapy at the Countess of Chester hospital twice a week, Mr Bruce said that Phoebe suffered far fewer dislocations.
They are down to one or two a day and she is managing to a large extent to put them back herself, he explained.They are down to one or two a day and she is managing to a large extent to put them back herself, he explained.
"At the moment she seems to be improving slowly but surely. She is aching quite a lot but when her joints do dislocate she is managing to put then back in.""At the moment she seems to be improving slowly but surely. She is aching quite a lot but when her joints do dislocate she is managing to put then back in."
Later on Monday she will see a rheumatologist who specialises in Ehlers-Danlos syndrome at Stanmore. On Monday she had an appointment with a rheumatologist who specialises in Ehlers-Danlos syndrome at Stanmore.
Mr Bruce said as well as learning more about the condition, they are hoping that this will lead to a longer stay at the hospital to help Phoebe manage it even better.Mr Bruce said as well as learning more about the condition, they are hoping that this will lead to a longer stay at the hospital to help Phoebe manage it even better.
It is the second consultation her family have had since they won the funding for private treatment from the Welsh government.It is the second consultation her family have had since they won the funding for private treatment from the Welsh government.
Dizziness and fatigueDizziness and fatigue
But he said although they have been given what seems a large sum of money for Phoebe's private treatment, they are not sure how much private treatment that will pay for.But he said although they have been given what seems a large sum of money for Phoebe's private treatment, they are not sure how much private treatment that will pay for.
Before Christmas Phoebe saw an expert at the St John and St Elizabeth hospital in London who also diagnosed her as suffering from another condition called Pots - postural orthostatic tachycardia syndrome.Before Christmas Phoebe saw an expert at the St John and St Elizabeth hospital in London who also diagnosed her as suffering from another condition called Pots - postural orthostatic tachycardia syndrome.
Pots causes her heart rate to increase when she sits up, leading to dizziness and fatigue.Pots causes her heart rate to increase when she sits up, leading to dizziness and fatigue.
Phoebe, who turns 18 in July, has had to temporarily abandon her studies at Hawarden High School because of her illness.Phoebe, who turns 18 in July, has had to temporarily abandon her studies at Hawarden High School because of her illness.
But her father said with her improved health she plans to return to sixth form next year and has ambitions to study psychology at university.But her father said with her improved health she plans to return to sixth form next year and has ambitions to study psychology at university.
He said Monday's appointment at Stanmore was a "massive step" for her. He said the appointment at Stanmore was a "massive step" for her.