A 35-year-old mum forced to sell her wedding ring to pay for her life-saving surgery says she would rather have a “fixed brain than diamonds”.
Mum-of-one Kate McGinley has a rare and life-threatening disease that causes her joints to flex “like rubber”.
When she was a child, she was able to stretch her body like a contortionist and dislocate her shoulders, hips and fingers on command on what she had brushed off as a party trick.
But little did she know that her unusual talent was being caused by a silent disease which began to rapidly escalated after she gave birth for the first time.
The Welsh mum was only diagnosed with Ehlers Danlos syndrome (EDS), a condition which affects the connective tissue supporting the skin, joints and bones, in 2017, she told Wales Online.
Have you got a story? Email [email protected]
Now, Kate is being forced to raise £37,000 to pay for brain surgery to tackle the life-threatening condition as it is not covered by the NHS.
She explained that EDS is a rare connective tissue disorder that affects her body’s collagen production.
“Normally, your collagen provides structure to your cells like cement. Mine is like rubber and causes my ligaments, skin, joints, everything to be extremely stretchy. This causes a multitude of problems internally that your body can’t cope with.
“For me it presents with postural othostatic tachycardia (POTS) which causes disabling headaches, temperature regulation problems, blindness when I stand, extremely high heart rate and extreme fatigue.
“My joints are extremely painful as my body cannot support them due to how stretchy they are.”
Because of how flexible her body is, Kate is now suffering with an even more worrying problem – her brain is being pulled through the base of her skull and is crushing her brain stem.
“Your brain stem is so very sensitive and controls so many bodily functions,” she said.
“Due to this compression I experience numbness and weakness all over my body, bladder and bowel problems, severe headaches, balance problems and memory issues.”
Kate said her symptoms became far more severe after giving birth to her son, Alexander, who is now six years old.
“EDS was not something I ever realised I had until after I had him. It was like a switch went off the moment after I gave birth,” she said.
“For him, all he’s seen is a tired and in-pain mother. He’s a very well-adjusted and empathetic child. He’s very helpful and he realises I can’t run up and down the stairs 40 times a day.
“I can do one thing a day at most, whether that’s going to Tesco or doing the hoovering. Otherwise I’m just in bed. He will bring things to me or he’ll play with things while sitting next to me in bed.
“He’s so understanding that it’s become his daily lifestyle.”
Kate, who lives in the small village of Pontneddfechan, Powys, also has cranio-cervical instability which is leading to her neck “crushing itself”.
“Every time I turn my head this causes horrible pain, my arms do not work and I cannot hold my own head up without support,” she added.
Kate added that her husband Clark, 47, who works as an engineer, has also found the past few years a struggle.
“He feels like he’s lost his wife. This has all been a huge weight on his shoulders as he has had to pick up the slack on top of being key worker,” she said.
EDS affects an estimated one in 5,000 people and there are little to no treatment options.
“Ehlers Danlos is the most under-researched and underfunded disease in medical history,” Kate claimed.
“There is no NHS plan for this and no help available, so private healthcare is the only option due to lack of research data.”
Kate said there are only four surgeons in the world who can fix her neck and brain – and one of them is based in the UK.
“He is an EDS specialist who can stop 80% of my symptoms and give me my life back,” she said.
“He will fuse my skull to my neck and also decompress my brain to give it more room to reduce the pressure.
“He will also use my data to inform the national spinal registry, to build research data that will eventually inform NICE guidelines so that other EDS patients can receive this treatment on the NHS.”
Despite taking out private medical insurance through her work, she claimed she has been denied cover as her procedure is “experimental”.
“I was in my hospital gown ready to go to theatre and they pulled the funding. And denied me treatment. This was one of the most traumatic experiences of my life,” said Kate.
Now Kate’s only option is to raise the funds she needs for the life-changing surgery. She is already in the process of selling her car and is also set to get rid of her wedding ring.
“I would rather have a fixed brain than some diamonds on my hands,” she admitted.
Two weeks ago she set up a GoFundMe page in the hope the public will be generous enough to donate to her cause.
The total was boosted by actor Michael Sheen who donated £1,000.
“I used to work for Women’s Aid in Port Talbot and he’s their ambassador now. One of my old colleagues suggested that I contacted him,” she recalled.
“I literally just tweeted him, explained what I was going through and asked him to retweet me. I did not expect him to donate so much money, bless him. He’s a Welsh hero.”
Kate, who works for a private clinical trials company in Swansea, has been unable to work for the past 18 months because of her condition.
“I manage clinical trials and work to help patients like me gain the data needed to support new treatments,” she said.
“And I am in the position that I’m trying to prevent professionally: rare diseases needing new treatments, that the NHS don’t recognise.
“I just want to get back to work and continue my career in medical science.”
To donate to Kate’s fundraiser please click here.