Erin is a 34 year old woman, originally from Surrey, UK. Erin has always been a fun, happy, and active person - but has not been without medical struggles in her life.
At the age of 24 she was diagnosed with Trigeminal Neuralgia, resolved by open skull surgery. After a long recovery she resumed her life relocating to Perth, Australia where she met her now husband Isaac in 2013.
After getting married in 2015, they embarked on a 4 month back-packing honeymoon throughout South-East Asia and the east coast of Australia before settling back in Perth, WA.
In 2017 after this big adventure, Erin started to notice some changes with her health. Some initial consultations with doctors led her to a diagnosis of Chronic Fatigue Syndrome (CFS). When all treatments for CFS made Erin even worse, her doctors started to look deeper, investigating Chronic Migraine (also without luck), then Cerebral Spinal Fluid Leak (CSF Leak).
MRI's, XRays and CT scans commence, along with multiple trips to Royal Perth Hospital for Diagnostic Blood Patches, lumbar punctures and Myelograms - also a dead end for identifying the cause of her many symptoms.
As is very Erin-like, she refused to give in to her chronic but yet not fully identified illness, and sought the opinion of a well respected Rheumatologist in Perth.
They confirmed Erin's suspicion that there is an underlying condition that explains her symptoms, known as Ehlers Danlos Syndrome/Hypermobility Spectrum Disorder. She was also referred to a renowned cardiologist who further diagnosed Erin with Postural Orthostatic Tachycardia Syndrome.
This all led Erin to seek out Dr Gilete, a renowned Neurosurgeon operating out of Barcelona, for an opinion on Craniocervical Instability and Atlantoaxial Instability. Dr Gilete, with absolute confidence and certainty, diagnosed these conditions and provided Erin with a surgical proposal that while not without risk, has been saving the lives of people like Erin for years.
With your help, she seeks to one day soon leave her bed again, start a family, advocate for others with this condition, complete her post-graduate studies in HR, but put more simply, Erin wants to love life again, to laugh more, to enjoy more.
What is EDS/HSD?
Ehlers Danlos Syndrome (EDS) or the Hypermobility Spectrum Disorders (HSD) are a group of inherited connective tissue disorders that affect collagen in the body. Collagen is kind of like your body’s glue -it is what holds your skin, joints, blood vessels, and other major organs in place.
The symptoms of EDS/HSD can be very widespread as collagen is involved in every aspect of the human body, meaning that almost every organ can be affected to a lesser or greater extent.
EDS is currently considered to be a rare disease as it affects approximately 1 in 5000 people world wide (however, due to it’s vast underdiagnosis, a presumed frequency of 1 in 200 has been proposed).
What is Postural Orthostatic Tachycardia Syndrome?
Postural Orthostatic Tachycardia Syndrome (POTS), a form of dysautonomia, is a condition in which a change from lying to sitting or standing causes an abnormally large increase in heart rate.
This leads to symptoms such as:
Lightheadedness, shortness of breath and fainting
Reduced blood flow to brain
Blood pooling in the legs
Brain fog (cognitive and speech difficulty)
Altered sleep phases
Vomiting and nausea
Poor Temperature Regulation
POTS is a common condition among those suffering with EDS/HSD. In Erin's case, it is thought that her brainstem compression is causing her severe POTS, and that her craniocervical fusion will improve this drastically.
What are Craniocervical Instability and Atlantoaxial Instability?
Craniocervical Instability (CCI) is where the ligaments in the neck are too weak to support the head, causing compression and deformation of the brain stem (think instability when moving head forward and backward). It primarily occurs in patients with EDS. In severe cases this can cause paralysis and death. The condition worsens with increasing severity of neurological symptoms over time.
Some people develop it after experiencing an injury, such as whiplash, while others will get it after repetitive movements, such as turning their heads.
Symptoms of CCI include severe headaches, dysautonomia (which can trigger fainting, a rapid heart, chronic fatigue and low blood pressure while standing), neck pain, impaired coordination and paralysis.
Atlantoaxial Instability (AAI) presents with similar symptoms, but refers to the excessive movement between the junction of the spine's first two vertabrae (think turning head side to side). This similarly causes deformation of the brain stem and all of the associated symptoms. In severe cases this can cause internal decapitation and death.