A promising student whose life has become a “living hell” of “unbearable agony” described her terrifying cocktail of rare conditions, which have left her in danger of internal decapitation and with part of her brain bursting out of her skull.
Forced to suspend her English literature studies at university, Emily Balfour, 23, is desperately trying to raise £150,000 for private surgery in the USA to stabilise her skeleton, as she says the “glue” holding her body together is dangerously weak.
Emily, of Muswell Hill, north London, said: “I have constant muscle pain, fatigue and joint dislocations.”
She continued: “My condition has progressed to the point where I wouldn’t be able to function if I didn’t have pain relief. It’s unbearable pain – when it’s bad, it’s completely indescribable.
“This surgery will change everything. I just want to be normal and not be in a living hell any longer.
“The glue holding my body together is really weak.”
Emily added: “And I have a Chiari malformation, meaning the lower part of my brain is herniating and pushing down through the base of my spinal column, so some of my brain is not in my skull.”
An ice-skating accident at 14 led to a number of alarming conditions being diagnosed by doctors, which saw Emily going from an active teenager, who loved ballet, skating and cycling, to doing no sport at all.
In 2011, following her accident, she was diagnosed with hypermobile Ehlers Danlos syndrome (EDS), a group of rare inherited conditions that affect connective tissues and, in Emily’s case, make her joints particularly loose, unstable and prone to dislocating.
She also has craniocervical instability (CCI), meaning the area where her skull and spine meet is dangerously unstable.
And she has Eagle syndrome – another very rare condition, in which problems with the styloid process, a small pointy bone just below the ear, cause pain in the face and neck.
As well as Chiari malformation, she has jugular vein compression, or excessive pressure on the veins in the neck.
No longer able to even enjoy a film or read a book, due to problems with visual processing from the neurological impact of her conditions, Emily put her studies on hold in early 2020 and is now desperate for the surgery she believes will restore some normality to her life.
She said: “As a child, I never realised it wasn’t normal to be in pain.
“At 14, I had an ice-skating accident which resulted in my EDS diagnosis and at 18 I was told I also had CCI.”
Looking back, there were signs very early in her life that all was not well for Emily, but, as she still enjoyed a full range of activities, by and large, she did not let them bother her.
She said: “It’s always been there to some extent, but I had a very normal life and was very active.
“I’ve always had insomnia and started getting ocular migraines – a condition causing brief attacks of blindness or flashing lights in one eye – when I was about 10.”
She added: “But it was my skating injury that brought things to a head, as it caused my knee to completely dislocate. The surgeon realised I was hypermobile and referred to me London’s Great Ormond Street Hospital (GOSH), where doctors diagnosed my EDS.”
As a young teenager, Emily was very distressed at being forced to give up sport, because of her health.
She said: “I loved sport, so I was very upset.”
She continued: “It wasn’t until I was older that I became much more engaged with my health.
“Then, a few years later, doctors realised I had a very severe form of EDS that affects my whole body. My muscles are weak, and my joints compensate for lax ligaments.”
Given physiotherapy, Emily repeatedly dislocated other joints – requiring more treatment.
Fatigue and pain when chewing, and discomfort/difficulty #swallowing, are just some of the symptoms people living with #EDS and #HSD can experience. Mr. Gary Wood gives a detailed introduction to these concerns & approaches to management: https://t.co/5FutisA5Ay pic.twitter.com/9sFK0tQWCP
— The Ehlers-Danlos Society (@TheEDSociety) August 19, 2021
Prescribed strong opioid painkillers from the age of 16, she says she is now reliant on dihydrocodeine.
“That’s how bad the pain is – I can’t not take the pills,” she said.
Determined to continue her education, she still made great progress at school, even taking part in filmmaking classes with the British Film Institute.
“I managed to push myself a lot and do well academically,” she said.
But pain hampers everything she does, ranging from severe aches to “burning” nerve pain, affecting her whole body and meaning she now struggles to manage day-to-day life.
She said: “The pain really depends on what body part it’s in.”
She continued: “With my neck, it’s a combination of muscle aches and the feeling of compression, which is a really horrible, unnerving feeling.
“With my lower spine, there’s a really burning pain and pins and needles, and elsewhere it’s really intense aches and sometimes other sharp pain. With nerve pain, it’s a burning feeling like fire.”
Describing her pain as being “so overwhelming” that, without analgesic medication, she would need to be hospitalised, there are still times where no drugs are strong enough to properly ease it.
“Even painkillers don’t always work,” she said.
“Sometimes, when the pain’s uncontrollable, I won’t physically be able to lift my head to reach the water to take the tablets.
“The weakness is insanely debilitating, and I’ve passed out from the pain from just twisting my neck before now.”
Progressively worsening since her diagnosis, Emily’s health took a turn for the worse after she finished her A-Levels and had knee surgery, aged 18, in late 2017.
She said: “It got really bad then. I was really sick during my A-Levels and struggled to get them done.
“Then I immediately had knee surgery, which was complicated.”
She added: “I had a long recovery and suffered with sepsis – a life threatening reaction to an infection – and was hospitalised, although, luckily, they managed to get it under control fast.”
Then in September 2018, when she enrolled at university, her health deteriorated further.
“I had to come home after the first term as I was so sick,” she said.
Hospitalised on and off for a few months at the beginning of 2019, Emily was forced to defer her place and was diagnosed with Eagle syndrome, CCI, and jugular vein compression.
Despite returning to university at various stages, her health has meant she has not yet graduated.
Explaining her additional diagnoses, she said: “The Chiari malformation means some of my brain is not in my skull.”
Emily continued: “The flow of the cerebral spinal fluid is impacted and causes intracranial pressure, or pressure inside my head, and the instability of my neck seriously compresses the brain stem.”
The brain stem is responsible for many vital functions, ranging from breathing to heart rate, blood pressure and sleep, and Emily now needs multiple operations to treat the complex issues affecting hers.
One option she would prefer to avoid entails invasive fusion surgery, which would see her upper neck and spine fused in place to treat her CCI.
In people with #ClassicalEhlersDanlosSyndrome (cEDS), fragile skin can split easily with minimal trauma. This leads to significant scarring usually starting from childhood. Learn more about living with cEDS and how to protect the skin: https://t.co/n6odLWHniO #MedEd #MedTwitter
— Ehlers-Danlos Support UK (@ehlersdanlosuk) September 14, 2021
Instead, she is hoping to raise the £150,000 needed to fund pioneering stem cell injections in Colorado, USA, which are designed to repair and strengthen the ligaments that keep her skull stable.
Known as a PICL procedure, it entails bone marrow concentrate containing stem cells being injected directly into ligaments, to increase stability.
Following the procedure, she plans to have a decompression operation to treat her Chiari malformation, a styloidectomy to cure her Eagle syndrome and a jugular vein decompression.
“I’m trying to build a treatment plan from the least to the most invasive procedure,” she explained.
“Colorado is basically the only place where they offer PICL. If there’s a way to avoid fusion, I want to try it.”
Fusing the bones of her neck and spine in place would prevent Emily from having a full range of motion.
She said: “The fusion is a last resort. You can’t move your neck to look up and down or left and right.
“With any hypermobility, you often end up needing more and more areas underneath to be fused too.
“You can end up being fully fused from your neck to your pelvis.”
Emily says she struggles, as she believes EDS is still not widely understood even by health professionals.
She said: “In my opinion, it is still underdiagnosed and misunderstood.”
With her GoFundMe page launched to help raise the funds she needs for surgery now at just over £14,000, she still has a long way to go until she can afford the help she needs.
"Strenuous contact sports is to be avoided such as netball, rugby, wrestling, boxing, martial arts, and football and soccer, anything that's impact-related really that could trigger something internal happening to a child with #vEDS in school." Jared Griffin, #VEDS2021
— The Ehlers-Danlos Society (@TheEDSociety) July 31, 2021
She said: “Having this surgery will change everything.
“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.
“More than anything though, I would love to go outside without everything looking distorted.”
And Emily added: “My distorted vision is one of my most unbearable symptoms and being in daylight is very difficult.
“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: www.gofundme.com/f/urgent-treatment-for-emily