Mother speaks of determination to save teenage daughter who has to be fed through her heart
PUBLISHED: 06:46 12 August 2017 | UPDATED: 15:32 12 August 2017
Copyright: Archant 2017
A mother has described the life threatening daily ordeal her daughter must endure so that she can get enough food to survive a rare condition, for which there is no cure.
Sophie Burke, 18, from Swaffham was born with Ehlers-Danlos syndrome, a group of inherited disorders that affect the connective tissues within the body causing regular problems, including stomach disorders and dislocated bones.
As she has gotten older her health has been slowly deteriorating and a recent visit to hospital has left her needing to be fed through her heart.
“It is done as an absolute last resort,” said Jo Burke, Sophie’s mum. “They tried everything but had to go with this.”
Ms Burke describes the procedure as a 12-hour ordeal each night where nutrients are fed into Sophie’s body through a Hickman line, which is usually used for the administration of medication or chemotherapy.
Sophie acknowledges the process comes at a huge risks to her life but says she is grateful as it is keeping her alive.
“I have to keep everything as sterile as possible to prevent a serious infection,” she said.
“My bedroom has lots of medical supplies and equipment in it and my mum and I have been trained to connect everything each night and to disconnect it the following morning.
“I try to stay positive in the hope that one day I will be able to eat again.”
While Sophie is showing great strength and positivity, she faces an uncertain future and has been told that her current situation could be permanent. But her mum says is not giving up.
“I won’t stop at ‘There is no cure’,” said Ms Burke. “I just hope there is someone out there who knows what could help. We believe there are treatments out there and even if it is not in this country there could be options we could try in order to get her a more normal life.”
The family has faced various barriers in using an NHS consultant and now private consultations are their only option but they come at a very high cost.
Friends of the family are now trying to raise money for the family so they can afford consultations which may help plan for Sophie’s future and find alternative treatments.
Their next event is being run by community support group, Swaffham & District Lions, who are running a raffle draw today (Saturday, August 12) at 7pm at The White House in Necton.
Sophie added: “I am so grateful that so many people are wanting to help me to get me the help that I am so desperate for.”
What is Ehlers-Danlos syndrome?
Ehlers-Danlos syndrome (EDS) is an inherited disorder which affects the connective tissues and underlying structures within the body, including skin, joints, internal organs, bones and blood vessel walls.
There are different types of EDS caused by faults in certain genes that make connective tissue weaker. Depending on the type of EDS, the faulty gene may have been inherited from one parent or both parents.
For some, the condition is relatively mild, while for others their symptoms can be disabling or even life-threatening.
People with EDS may have:
*Loose, unstable joints that dislocate easily
*Skin that bruises easily
*Digestive and bowel problems
*Dizziness and increased heart rate after standing up
*Problems with internal organs, such as mitral valve prolapse or organ prolapse