When she was a kid, Kate McGinley had a party trick that made all of her friends and family squirm.
Her ability to stretch and stretch her body like a contortionist meant that she could move her shoulders, hips, and fingers on command.
Little did she know, however, that her unusual talent was caused by a rare, life-threatening disease that would later cause her years of pain and suffering.
Kate was diagnosed with Ehlers-Danlos Syndrome (EDS) in 2017, a condition that affects the connective tissue that supports the skin, joints and bones – although she has unwittingly suffered from it all her life.
“EDS is a rare connective tissue disorder that affects the way your body produces collagen,” she explained.
“Ordinarily, your collagen gives your cells structure like cement. Mine is like rubber and makes my ligaments, skin, joints, and everything extremely stretchy. This creates a myriad of internal problems that your body can’t handle.”
“For me, it’s postural othostatic tachycardia (POTS) that causes headaches, temperature regulation problems, standing blindness, extremely high heart rates, and extreme fatigue.
“My joints are extremely painful because my body cannot support them because they are so flexible.”
Kate has had chronic pain for six years
(Image: Western Mail)
Because of the flexibility of her body, Kate now has an even more worrisome problem: her brain is being pulled through the base of her skull, crushing her brain stem.
“Your brain stem is so sensitive and controls so many body functions,” she said.
“Because of this compression, I have numbness and weakness all over my body, bladder and bowel problems, severe headaches, imbalance and memory problems.”
Kate, 35, who lives in the small village of Pontneddfechan, Powys, also suffers from cranio-cervical instability, which causes her neck to “crush itself”.
“Every time I turn my head it causes excruciating pain, my arms don’t work, and I can’t hold my own head up without support,” she added.
Kate with her six year old son Alexander
(Image: Western Mail)
Kate said her symptoms became far more severe after the birth of her son Alexander, who is now six years old.
“EDS wasn’t something I ever realized until I had it. It was like a switch went off the moment I was born,” she said.
“For him, all he has seen is a tired and painful mother. He is a very balanced and sensitive child. He is very helpful and he realizes that I cannot run up and down the stairs 40 times a day.
“I can only do one thing a day, whether it’s Tesco or vacuuming. Otherwise I’m just in bed. He’ll bring me things or he’ll play with things while he’s in bed next to me.”
“He’s so understanding that it has become his daily lifestyle.”
Kate with her son Alexander and husband Clark, 47
(Image: Western Mail)
Kate added that her husband, Clark, 47, who works as an engineer, has also struggled in recent years.
“He feels like he has lost his wife. It was all a lot of weight on his shoulders as he had to fill the gap to be a key worker,” she said.
EDS affects an estimated 1 in 5,000 people and there are little or no treatment options.
“Ehlers Danlos is the least researched and underfunded disease in medical history,” claimed Kate.
“There’s no NHS plan or help for that, so private health care is the only option due to a lack of research data.”
Kate said there are only four surgeons in the world who can fix their neck and brain – and one of them is based in the UK.
“He’s an EDS specialist who can stop 80% of my symptoms and give me my life back,” she said.
“It will fuse my skull with my neck and also decompress my brain to give it more room to relieve the pressure.
“He will also use my data to inform the national spine registry and produce research data that will eventually inform NICE guidelines so that other EDS patients can receive this treatment through the NHS.”
(Image: Western Mail)
Although her work gave her private health insurance, she was denied coverage because her procedure is “experimental”.
“I was ready to go to the theater in my hospital gown and they withdrew the funds. And refused treatment. This was one of the most traumatic experiences of my life,” said Kate.
Now, Kate’s only option is to raise the £ 37,000 she needs for the life-changing surgery. She is already in the process of selling her car and will be getting rid of her wedding ring too.
“I’d rather have a solid brain than a few diamonds on my hands,” she admitted.
She launched a GoFundMe page two weeks ago in the hopes the public would be generous enough to donate to her cause – and in 14 days she has raised more than £ 4,500. To help, please go here.
The amount was topped up by Hollywood A-lister and political activist Michael Sheen, who donated £ 1,000 of his own money.
Welsh actor and political activist Michael Sheen donated £ 1,000 to Kate’s surgery
(Image: Getty Images)
“I used to work for the Women’s Aid in Port Talbot and he’s now their ambassador. One of my old colleagues suggested I contact him,” she recalled.
“I literally just tweeted him explaining what I went through and asked him to retweet me. I didn’t expect him to donate that much money, bless him. He’s a Welsh hero.”
Kate, who works for a private clinical trial company in Swansea, has been unable to work for the past 18 months due to her condition.
“I manage clinical trials and work to help patients like me get the data needed to support new treatments,” she said.
“And I am able to professionally prevent: rare diseases that require new treatments and that the NHS does not recognize.
“I just want to go back to work and continue my career in medicine.”
