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Limb dislocation: Phoebe Bruce's Ehlers-Danlos syndrome treatment | Limb dislocation: Phoebe Bruce's Ehlers-Danlos syndrome treatment |
(35 minutes later) | |
A teenager with a rare condition which causes her limbs to dislocate is starting 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 was given an appointment with a specialist at hospital in London after the Welsh government agreed funding for her care. | She was given an appointment with a specialist at 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." |
On Monday she had an appointment with a rheumatologist who specialises in Ehlers-Danlos syndrome at Royal National Orthopaedic Hospital in Stanmore. | On Monday she had an appointment with a rheumatologist who specialises in Ehlers-Danlos syndrome at Royal National Orthopaedic Hospital in 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 fatigue | Dizziness 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 the appointment at Royal National Orthopaedic Hospital in Stanmore was a "massive step" for her. |