One student whose life has become a “living hell” of “excruciating agony” described her terrifying cocktail of rare diseases that put her skull at risk of internal decapitation and part of her brain bursting.
Emily Balfour, 23, forced to take a break from studying English literature at university, is desperate to raise £ 150,000 for a private operation in the US to stabilize her skeleton as she says the “glue” that holds hers Holding body together, be dangerously weak.
Emily of Muswell Hill, North London said, “I have constant muscle pain, fatigue and joint dislocations.”
She continued, “My condition is so advanced that if I didn’t have pain relief, I could no longer function. It’s an excruciating pain – when it’s bad, it’s completely indescribable.
“This operation will change everything. I just want to be normal and no longer be in a living hell.
“The glue that holds my body together is really weak.”
Emily added, “And I have a Chiari malformation, which means the lower part of my brain breaks and pushes down through the base of my spine so part of my brain is not in my skull.”
An ice skating accident at the age of 14 resulted in a series of alarming conditions that were diagnosed by doctors, resulting in Emily’s no longer exercising at all, of an active teenager who loved ballet, ice skating, and biking.
In 2011, after her accident, she was diagnosed with hypermobile Ehlers-Danlos syndrome (EDS), a group of rare hereditary diseases that affect connective tissue and, in Emily’s case, make her joints particularly loose, unstable and prone to dislocation.
She also has craniocervical instability (CCI), which means the area where the skull and spine meet is dangerously unstable.
And she has Eagle Syndrome – another very rare condition where problems with the styloid process, a tiny sharp bone just below the ear, cause pain in the face and neck.
In addition to the Chiari malformation, it has compression of the jugular vein or excessive pressure on the veins in the neck.
Unable to enjoy a movie or read a book due to visual processing issues due to the neurological effects of her condition, Emily put her studies on hold in early 2020 and is now desperately hoping for the surgery she believes in that she will restore some normalcy to her life.
She said, “As a child, I never realized that it was not normal to be in pain.
“At 14 I had an ice skating accident that led to my EDS diagnosis and at 18 I was told that I also had CCI.”
In retrospect, there were signs very early in her life that everything was not all right for Emily, but since she by and large was still enjoying quite a number of activities, she didn’t let it bother her.
She said: “It was always a little way there, but I had a completely normal life and was very active.
“I’ve always had insomnia and developed ocular migraines – a condition that caused brief attacks of blindness or flashes of light in one eye – when I was around 10.”
She added, “But it was my skating injury that took things to extremes as my knee dislocated completely. The surgeon realized I was hypermobile and referred me to London’s Great Ormond Street Hospital (GOSH), where the doctors diagnosed my EDS. “
As a young teenager, Emily suffered greatly from having to quit exercising because of her health.
She said, “I loved the sport so I was very excited.”
She continued, “It wasn’t until I was older that I became much more concerned with my health.
“Then a few years later, the doctors found that I had a very severe form of EDS that affects my entire body. My muscles are weak and my joints compensate for slack ligaments. “
During physical therapy, Emily repeatedly dislocated other joints – which required further treatment.
Prescribed strong opioid pain relievers for ages 16 and up, she says she is now dependent on dihydrocodeine.
“The pain is that bad – I can’t take the pills,” she said.
Determined to continue her education, she nevertheless made great strides in school and even took film courses at the British Film Institute.
“I managed to push myself and do well academically,” she said.
But pain interferes with everything from severe pain to “burning” nerve pain that affects her whole body and means that she is now struggling to cope with her daily life.
She said, “The pain really depends on what part of the body it is in.”
She continued, “On my neck, it’s a combination of muscle pain and a feeling of compression, which is a really terrible, nerve-wracking feeling.
“My lower spine has a really burning pain and tingling sensation, and elsewhere it’s really a lot of pain and sometimes other sharp pains. With nerve pain it is a burning sensation like fire. “
She describes her pain as “so overwhelming” that she would have to be hospitalized without pain reliever medication, but there are still times when no medication is strong enough to properly relieve it.
“Even pain medication doesn’t always work,” she said.
“Sometimes when the pain is uncontrollable, I cannot physically lift my head to reach the water to take the pills.
“The weakness is incredibly debilitating and I passed out from the pain because I’ve just twisted my neck so far.”
Since her diagnosis, Emily’s health has continued to deteriorate after graduating from high school and undergoing knee surgery at the age of 18 in late 2017.
She said, “That was where it got really bad. I was really sick during my high school and struggled to get through.
“Then I was operated on my knee immediately, which was complicated.”
She added, “I had a long recovery from sepsis – a life-threatening reaction to infection – and was hospitalized, although luckily they got it under control quickly.”
When she enrolled at the university in September 2018, her health continued to deteriorate.
“I had to come home after the first semester because I was so sick,” she said.
Emily was in the hospital for a few months in early 2019 and had to move her seat. She was diagnosed with Eagle syndrome, CCI, and jugular vein compression.
Although she returned to university at various stages, her health has meant that she has not yet completed a degree.
She explained her additional diagnoses: “The Chiari malformation means that part of my brain is not in my skull.”
Emily continued, “The cerebrospinal fluid flow is impaired causing intracranial pressure, or pressure, in my head, and the instability of my neck is severely compressing the brain stem.”
The brainstem is responsible for many vital functions, from breathing to heart rate, blood pressure and sleep, and Emily now has to undergo multiple surgeries to treat the complex problems that affect her.
One option she would prefer to avoid is invasive fusion surgery, which involves fusing her upper neck and spine to treat her CCI.
Instead, she hopes to raise the £ 150,000 needed to fund groundbreaking stem cell injections in Colorado, USA, to repair and strengthen the ligaments that keep her skull stable.
The procedure, known as the PICL procedure, injects bone marrow concentrate containing stem cells directly into the ligaments to increase stability.
After the procedure, she plans to have decompression surgery to treat her Chiari malformation, a styloidectomy to cure her Eagle syndrome, and decompression of the jugular vein.
“I try to create a treatment plan from the least to the invasive procedure,” she explained.
“Colorado is basically the only place they offer PICL. If there is a way to avoid a merger, I would like to give it a try. “
The fusion of the bones of her neck and spine would prevent Emily from having her full range of motion.
She said, “The merger is the last resort. You can’t move your neck to look up and down or left and right.
“With every hypermobility, more and more areas have to be merged underneath.
“You may end up being completely fused into your pelvis by your neck.”
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Emily says she’s having trouble believing that EDS is still not widely understood even by health professionals.
She said, “In my opinion, it’s still underdiagnosed and misunderstood.”
With her GoFundMe page started to raise the funds she needs for the operation, which is now just over £ 14,000, has a long way to go before she can afford the help she needs.
She said, “This operation will change everything.
“I wanted to write and make films, but now I’m more interested in medicine and want to do psychotherapy training and work in this field.
“Most of all, I would like to go outside without everything looking distorted.”
And Emily added, “My distorted vision is one of my most unbearable symptoms and it is very difficult to be in daylight.
“I used to be so passionate about movies and reading, but because of my brain and vision problems, I’m now limited to audiobooks. I can’t even do basic things like watching TV, I used to enjoy it so much.
“I just want to finish my studies and lead a normal life and not get stuck in this hell.”
To donate to Emily’s fundraiser, visit: www.gofundme.com/f/urgent-treatment-for-emily
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