A 25-year-old woman's brain is slipping down her spine. She's raising $250,000 for treatment to avoid paralysis.
Emily Balfour fell over while ice-skating, and it destabilized her spine.
One of her injuries causes her brain to bulge through her skull, causing severe pain and periods of paralysis.
She is raising money for a procedure to avoid being eventually paralyzed.
A 25-year-old woman is trying to raise £200,000 ($250,000) for a risky stem cell treatment that could stop her brain from slipping down her spine, and save her from paralysis.
Once sporty and active, Emily Balfour, from London, UK, suffered an ice skating injury when she was 14, that destabilized her spine, the Manchester Evening News (MEN) reported. When she was treated for her injury, doctors discovered she also has Ehlers-Danlos syndrome, a rare condition that can loosen the connective tissue between tendons and bones in the body.
A decade later, she struggles to get out of bed due to her injuries, which are exacerbated by EDS. She has a Chiari malformation, which causes the lower part of her brain to bulge through the back of her skull into her spinal column. She also has craniocervical instability, which can lead to deformities of the brain stem.
"I'm in relentless levels of pain and, the more activity I do where I'm moving my neck, the worse the pain is," she told the MEN.
Balfour is now campaining to raise money to travel to the US for a procedure called a PICL to get stem cells injected into the spine, through the back of the mouth, that she hopes will stabilize her skull.
"The longer it goes on, I'm losing more and more years of my life," she said.
Dr. Dacre Knight, the medical director of the EDS clinic at Mayo Clinic, told Insider that injection treatments can be given to some EDS patients with extra mobility — who are able to move their joints further than they should, causing pain — who tend to be at a high risk of having CCI.
The theory behind the treatment is to make the body grow back stronger and more stable in the affected area.
However, stem cell treatments like PICL are considered to be investigational procedures for EDS: there isn't a lot of data yet on how well the procedure works for CCI and they don't work for every case, Knight said.
Conventionally, a patient with EDS would have an MRI scan, and if it's confirmed they have CCI, they would be given physiotherapy to stabilize the area. For those with persistent symptoms, the options would then be extended to surgery or procedures like the PICL, Knight said, but doctors will try to avoid surgery when possible.
Extreme fatigue, paralysis, and loss of vision
Balfour now suffers daily from extreme fatigue, periods of paralysis, and loss of vision. This is because her brainstem is damaged to the point where her body does not function properly, the MEN reported.
She said she feels unable to participate in life as she's unable to work or complete her English degree and has limited vision.
"I want to keep my sense of agency but it's getting more and more difficult," she said, recounting one incident earlier this year, when she was hospitalized with a paralyzed arm.
"I feared I'd never regain mobility of it," she said.
While she did regain her mobility, her condition could eventually lead to physical disability, permanent paralysis, and premature death.
Balfour's case is, however, an incredibly rare one, Knight said. Most patients with EDS symptoms tend to experience generalized pain but have no decreased life expectancy, especially with the right physiotherapist and treatment.
Looking forward to the future, Balfour hopes to one day finish her English degree and travel.
"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," she told MEN. "Getting treatment will change everything," she said.
Read the original article on Insider