Julie’s Story
For 40 years Julie lived with a plethora of debilitating symptoms which doctors could not diagnose. In mid 2020 she was diagnosed with several rare illnesses which leave her with a 95% disability to her brain stem.
She has been mostly bed bound for about ten years. Imagine being in lockdown for that long! It’s been tough but she has developed coping strategies which have served her mental health, especially, very well.
Since the age of around 8, Julie became increasingly aware of many unusual symptoms and pain across her body.
Doctors began the 40 year investigation into her illness when she was hospitalised due to limb paralysis with strange and painful sensations throughout her body.
As time progressed doctors began to find the diagnosis a challenge too far. Julie’s symptoms not only increased in severity but also in number over the years. They frequently changed which confused doctors further in their pursuit of a diagnosis.
Over time, medical professionals began to point to hypochondria, attention seeking, and psychiatric illness as the cause of what was seen by them as a non-existent ailment as they were unable to make a diagnosis. Several distressing encounters with medical personnel acting unprofessionally and accusing her of lying lead Julie to do everything in her power to find the reason for her increasingly debilitating condition.
Due to these many stressful encounters Julie frequently questioned herself and her mental health wondering if she was, indeed, suffering from a psychiatric disorder rather than being physically ill. She put herself down frequently despite her very real and painful physical suffering.
Something within her rose up above this and determinedly pushed on with solving this medical mystery.
Thankfully, this was to prove to be successful.
After a 40 year battle for answers, in mid 2020, Julie was formally diagnosed with Ehlers Danlos Syndrome which causes Craniocervical Instability (CCI), Atlantoaxial Instability (AAI), and Atlantoaxial Subluxation (AAS) which cause severe crushing of her brainstem. She also has Tethered Cord Syndrome. A condition where the spinal cord is stuck to the inside of the spinal column causing the cord to be under tension causing further issues with the instability in her upper spine as well as pain and other symptoms in and near her lumbar spine.
She has been assessed on the Brainstem Disability index as having a 95% brainstem disability.
Link Between EDS, CCI, AAI, & AAS
Ehlers Danlos Syndrome
Lax Ligaments
Poor Connection Between Bones of Spine & Skull
CranioCervical Instability
Atlantoaxial Instability
Atlantoaxial Subluxation
Brain Stem Stretching & Compression
Disruption of messages between the brain and body resulting in dysfunction of most body systems and a great deal of pain
EDS is, in itself quite a rare disorder with the hypermobile and classical forms being the most common; the hypermobile type may affect as few as 1 in 5,000 to 20,000 people.
Amongst those with hEDS, the prevalence of CCI, AAI, and AAS is fewer than 5%. Of that 5%, just a few have grades of instability which requires surgery. Possibly between 1% and 5%. That means, the frequency would be somewhere between 1 case per 2 million of the regular population and 1 case per 10 million of the regular population.
So, as you can see, Julie’s condition is exceptionally rare.
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Smiling despite the pain and other debilitating symptoms is what many see but this is a veneer and not the truth. Scratch the surface and you’ll find the hellish landscape of a war on my body and mind whilst I’m trying to simply survive. Looks can be extremely deceiving.
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Social media feeds are filled with smiley faces and snapshots of happy moments, when in fact these photos are only the tip of a mammoth iceberg, underneath which the struggle and larger part of our lives remains unseen.
But You Don’t Look Sick
Many people with Ehlers Danlos Syndrome have very smooth and velvety skin. Others have excessively wrinkled and loose skin. Julie falls into the first category. This sign of having hEDS often makes the patient appear to be quite healthy. It hides the hell which is raging inside the body.
Every person with EDS is different and has different manifestations of the syndrome. Some people are completely unaware of having the gene whilst others have constantly dislocating and subluxing joints, or rely on feeding tubes and 24 hour care to survive. These are just some of the reasons why this condition is so difficult to diagnose. The patient often looks well and has unusual and changing symptoms. EDS patients also, like many with chronic illnesses, are experts in hiding their pain and other debilitating symptoms as expressing or showing these things results in you being labelled as a complainer or a hypochondriac, especially prior to diagnosis.
To anyone who has ever said, “But you don’t look sick?”:
You are right. Sometimes, EDS patients don’t look sick. Those are the times when EDS patients can get out and about. The times when you see them are their best times. The rest of the time is a completely different story with most people spending weeks, months, or years in bed and looking like hell. If only people could see what was happening inside the body of someone with EDS they would be overwhelmed with shock.
