A 25-year-old who has been mostly bed bound by a painful condition that is causing her brain to slip down her spine is pleading for help to raise funds for lifesaving treatment in the US to stabilise her skeleton.
Desperate to raise the £200,000 she needs, Emily Balfour, from London, said she will eventually face permanent disability and is at risk of paralysis if she does not receive PICL, a procedure that injects stem cells into the spine through the back of the mouth.
An ice-skating accident at the age of 14 flagged the alarming conditions that cause Emily to now live with “relentless levels of pain”.
She was diagnosed with Ehlers-Danlos syndromes (EDS), a collection of rare conditions affecting the connective tissues that make her joints unstable and prone to dislocation, as well as craniocervical instability (CCI), meaning the area where her skull and spine meet is dangerously unstable.
Emily also has Chiari malformation, which means the lower part of her brain has herniated and is pushing down through the top of her spinal column.
“My health is continuing to deteriorate but I still haven’t managed to raise enough money to get the treatment I need in America,” Emily said.
“It would be lifesaving for me and, unless I get the treatment, my life is on pause and stagnated, I’ve become largely bed bound.
“And this issue doesn’t just affect me, there are so many people with this condition who are struggling to get funds for treatment abroad. Money is the barrier for us being able to live our lives.”
In 2011, Emily was first diagnosed with EDS after an ice-skating accident resulted in a trip to the doctors.
I want to keep my sense of agency but it’s getting more and more difficult.— Emily Balfour
Once a sporty and active teen, Emily is now confined to her bed most days.
Due to Chiari malformation, Emily’s brain is pushing down through the top of her spinal column and she said medical specialists have informed her that some of her brain is no longer in her skull.
Emily once had dreams of working in film, but she is unable to complete her degree and is also not able to work while she struggles with her health.
She said: “I’m not able to participate in life, I’m unable to work and I keep having to delay the completion of my degree.
“I have limited vision, I can’t see out of my left eye and I have recently dealt with limb paralysis.”
Earlier this year, Emily was rushed to hospital after her left arm became paralysed and swollen.
She said: “It looked like a dead person’s arm, I feared I’d never regain mobility of it.
“It turned out I was struggling with blood flow to the arm, and I’ve regained limited use of my arm, but I’m high risk of it happening again.
“I’ve seen people with these conditions lose function of their arms completely and that obviously concerns me because I live by myself.
“I want to keep my sense of agency but it’s getting more and more difficult.”
Emily said her brainstem has been damaged to the point where her body is not functioning and she suffers daily from extreme fatigue, periods of paralysis, and loss of vision.
It’s incredibly frustrating and I have to accept that I can’t live the life I thought I would.— Emily Balfour
As a result, Emily now finds herself largely bed bound, is regularly in and out of hospital and suffers from excruciating symptoms which threaten irreversible physical disability and potentially death.
Innovative treatment in the US to stabilise her skeleton will be life-changing for Emily, but it comes at a cost.
She hopes to raise £200,000 for multiple stem cell treatments, medical care and accommodation in Colorado, USA, where she will undergo a procedure known as PICL to repair and strengthen the ligaments that keep her skull stable.
She said: “I’m in relentless levels of pain and, the more activity I do where I’m moving my neck, the worse the pain is.
“If I don’t get treatment then it’s looking likely that eventually I will lose the use of one or both of my arms.
“The longer it goes on, I’m losing more and more years of my life.”
Before her diagnosis, Emily had dreams of working in film, having attended the BFI Film Academy as a teen.
She also had plans to travel after finishing her English degree, which is currently on hold.
Emily said: “It’s incredibly frustrating and I have to accept that I can’t live the life I thought I would.
“I’m seeing other people my age having fun and building their careers but until I get the PICL procedure, I’m stuck.
“There are other people who are also in my situation and it’s not an easy journey but I just hope that these treatments will be easier to access closer to home so we can get back to living.”
I just want to be able to complete my degree and have a normal life and not be stuck in this living hell.— Emily Balfour
Emily hopes more research into EDS will result in more treatment options becoming available.
For Emily, she says the procedure will be a lifeline and enable her to start living again.
“Getting treatment will change everything,” she said.
“I wanted to write and make films, but I am now more interested in medicine and want to get a psychotherapy qualification and work in that field.
“I used to be so passionate about movies and reading, but because of my brain and vision issues, I’m restricted to audiobooks now. I can’t even do basic things like watching TV, that once brought me so much joy.
“I just want to be able to complete my degree and have a normal life and not be stuck in this living hell.”
To donate to Emily’s fundraiser, visit her GoFundMe page.
