The Short Story.
Julie’s story and surgical costs fundraising campaign is long and complicated.
To cut right to the chase, with only simple explanations and medical details, here it is with only the most essential information.
Dr Gilete and staff in the surgical suite, Centro Médico Teknon, Barcelona
Julie fought for a diagnosis of her numerous, changing, and wide ranging symptoms since she was about 10 years old. She finally got a diagnosis in 2020.
Her diagnosis came with the good news that surgery could vastly improve her quality of life and reduce or remove most of her symptoms. The not-so-good news being that the surgeries required are very expensive and not available in Australia.
Julie has a rare genetic condition, Ehlers Danlos Syndrome, a connective tissue disorder. She has some even rarer conditions which are caused by EDS.
EDS is itself a debilitating and painful condition. The additional syndromes render Julie’s life pain filled and prevent her from participating in most of life’s activities.
These conditions result from the connections holding the skull and spine together being too weak to hold them in the right place.
Craniocervical Instability (CCI) means that the skull doesn’t sit on the top of the spine correctly. It slides over the top of the spine instead of tilting up, down, and sideways.
Atlantoaxial Instability (AAI) means that the bones of the neck aren’t held together properly and the vertebrae move out of alignment.
Atlantoaxial Subluxation (AAS) is the subluxation or partial dislocation of the skull and the vertebrae of the neck which is caused by AAI. Each time Julie turns her head there is less than 1 millimetre of bone connection between her head staying on her spine and it dislocating.
If any of these joints subluxed (partially dislocate) or dislocated with a sharp jolt, it could mean that the spine becomes completely severed resulting in an internal decapitation - a decapitation with the skin and muscles still intact, or quadriplegia.
The moving bones in Julie’s neck press against the brain stem. The brain stem is the centre of most of the unconscious activities of every system in the body and every unconscious function your body carries out. This means that all of her body is affected. Julie has been assessed as having 95% of her brain stem affected by this compression. This results in many issues throughout her body.
For the past ten years, Julie has been confined to bed for, on average, 23 hours per day. Any activities exhaust her and result in ‘hyper sleeps’ where she sleeps for extended periods and for several days.
Julie has another condition related to EDS and also to Spina Bifida, Tethered Cord Syndrome. The spinal cord is stuck to the inside of the lower spine. It should float freely. This needs to be cut away to stop the symptoms caused by the spinal cord pulling tight. Although this has also existed since birth, it has only recently been discovered.
The chances of having EDS, the spinal weaknesses, and the weaknesses being to the extent where only surgery can help to stop the many, many painful and debilitating symptoms is between around 1 in 2,000,000 and 1 in 10,000,000.
There are only around 20 surgeons worldwide who treat these instabilities. Of those, there are two who are experts in these surgeries being done on people with EDS. EDS poses a plethora of complications in any surgery let alone one which is so invasive and so intricate. So, a surgeon highly experienced and educated in this niche field is absolutely necessary. A few others do attempt these surgeries but the rate of success is low and the complications which can be fatal are high. One of the surgeons in the USA but one is in Barcelona, Spain. This surgeon is regarded as a world leader in the surgeries Julie needs.
Julie needs to have her skull fused to her spine down to the second vertebra in the neck. She also needs to have the third to sixth vertebrae fused in a separate surgery. Disks will be replaced and sharp, bony spurs which are growing inside Julie’s spine and push into the spinal cord will also be removed during this procedure.
Tethered Cord Release surgery is also required.
These three procedures are quite different from other spinal fusions. They can’t be performed by other neurosurgeons. These surgeries are not available in Australia.
This is Julie’s only remaining treatment option. Without these surgeries, her condition will deteriorate leaving her with an unacceptable quality of life.
These surgeries are expensive but FAR less than the same surgeries performed in the USA. The price of all three surgeries, airfares, accommodation, living expenses, insurance, etc in Spain are less than ⅓ of just one of the surgeries at current fees in the USA.
At a minimum, Julie requires around AUD$300,000 to cover all expenses. This includes paying the airfares for her accompanying person. The surgeon requires that each patient is accompanied by at least one person. This person must remain with Julie at all times while she is in an induced coma for two days after the surgery and on a scheduled basis after that time for two further weeks in hospital.
Due to the possibility of complications during the 12 month surgical recovery period, previous patients have strongly suggested that Julie stays near the hospital in Barcelona for that duration. Julie has allowed for this extended stay in her fundraising goal. This time will also allow for specialist rehabilitation.
Some of Dr Gilete’s patients from The Netherlands came together to celebrate their life changing results.