What is Chiari malformation? Symptoms explored as Emily Balfour GoFundMe raises more than £28,000

25-year-old Emily Balfour, who was once an active teenager and loved ice skating, is now a bedridden woman with a painful disease causing her brain to slip down her spine. Emily was just 14 when she had an ice-skating accident and was diagnosed with Ehlers-Danlos syndrome, better known as EDS.

This disease mostly affects the tissues and dislocates the joints easily. It also causes craniocervical instability (CCI), which makes the area where the skull and spine meet unstable. On top of all, Emily also has Chiari malformation, a disease that causes the brain tissues to extend downwards towards the spinal canal.

To treat the same, Emily needs a whopping £200,000, primarily to undergo PICL, which will inject some stem cells into her spine from the back of her mouth. The inability to do so can result in paralysis and a permanent disability. To obtain the amount, Emily Balfour and her family began a GoFundMe account which has raised over £28,868 in the last year.

At the moment, Emily is largely bed-bound and is in and out of the hospital multiple times due to her deteriorating condition.

A screenshot of Emily Balfour's GoFundMe page. (Image via GoFundMe)

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"I'm not able to participate in life": Emily Balfour’s condition and symptoms explored

It has been roughly 11 years since Emily Balfour's accident. She dreamed of working in films, but her condition would not allow her to step out of bed for long. Talking about the same, 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."

She also talked about how her brainstem has been damaged, and it now does not allow the body to function properly. As a result, she even has periods of paralysis and loss of vision.

25-year-old Emily Balfour, who was once an active teenager, is now a bedridden woman due to a painful disease that is causing her brain to slip down her spine. (Image via PA Real Life)

Emily Balfour’s condition, Chiari malformation, is extremely uncommon and rare. However, patients mostly face multiple symptoms, which depend on their type and severity. According to the Mayo Clinic, experts have divided the disease into Type 1 and Type 2.

The Chiari malformation type 1 is usually when the symptoms appear in adulthood. The individual faces symptoms like coughing, straining, neck pain, unsteady gut, poor hand coordination, numbness of the hands and feet, and dizziness. Such individuals can also experience problems with speech, weakness, a low heart rhythm, etc.

(Left) Emily Balfour as a little girl, and (Right) a recent picture (Image via PA Real Life)

In type 2, the tissues extend into the spinal cord. Similar to the case of Emily Balfour, the individual can experience changes in breathing patterns and weakness in the body. The Mayo Clinic also mentions how the person can experience a quick downward eye movement, along with other problems like paralysis and dislocation of the joints.

Talking about her health, Emily said:

“My health is continuing to deteriorate but I still haven’t managed to raise enough money to get the treatment I need in America. 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.”

She then went on to claim how her issue is similar to the problems of most people with this condition, as finances often become the "barrier."

While Emily is hopeful that her treatment will change her life, at the moment, the family and the 25-year-old are collecting funds from GoFundMe. It is not clear when she will undergo treatment.