The Downward Spiral
In 2011 while walking in the park I was nocked down by a large dog and seriously damaged my knee. The knee badly dislocated it was off to hospital. a few months after I still couldn't walk on it properly because it would keep dislocating. Almost a year of lots of A&E visits I was referred to a children's knee surgeon. At this point it was staying out of joint most of the time. The surgeon did a major reconstruction of my knee to stop it dislocating .
It worked but I was in agony and knew something wasn't right. A few more ops and intensive physio managed to improve strength but it still wasn't right, He diagnosed CRPS. I was moved on to adults orthopaedic clinic. a scan revealed a pin was digging in my knee so that was taken out and the ligament re tightened because it had re stretched! For about 6 months it was doing ok, Then my hip popped out on the stairs making my knee give out. I tried to stop myself falling but failed and ended up dislocating my right knee. I had surgery on that knee using a tendon graft and intensive physio followed.
One of the physios noticed my joint hypermobility and asked if I have EDS I didn't know what that was at the time. my knee surgeon referred me to a rheumatologist to rule out joint problems like arthritis. Before my appointment I looked up EDS to just mention it to the rheumatologist. Tests ruled out arthritis and other inflammatory joint problems but said hip sockets are very shallow. I mentioned my physios keeps asking me if I have EDS. The rheumatologist examined my joints, skin spine and agreed and sent me to genetics clinic to confirm.
The Long Road To Diagnosis
My EDS Journey
You will have to bare with me on this. Its a long story kept as short as I can. I'm 23 I have lots of complex health issues including EDS, Chiari, IIH, POTS, Craniocervical Instability, Cervical Medullary Syndrome and more but I wont bore you with that. I need urgent brain and spine surgery only available in Barcelona.
I wasn't always this ill or disabled. I had a few minor health issues repetitive ankle sprains in junior school and secondary school, headaches all the time and surgery on my eyes as a young child but other than that I was active, always out playing, bike riding, swimming, walking, fishing and horse riding.
I am a big animal lover so horse riding was my dream hobby. I rode for about 7 years and with my friends in lessons a few times. It wasn't until the age of 10 that things started going wrong. I noticed my headaches were increasing, pain in my back, hips and feet and fatigue was creeping up. Drs said.. "oh your grow out of it" its just growing pains.
In 2006 broke my wrist and after it healed the wrist joint kept dislocating landing me in A&E several times.. I saw a hand surgeon who noticed I had extreme range of movement in my joints he wondered if some underlying condition was the cause. The surgeon was going to fuse my wrist but before he could all hell broke loose in my body thanks to a freak accident in a local park.
The Day Everything Made Sense
2014 The day of the genetics appointment had arrived! Me and my mum were both nervous because we knew it was an important day. The genetic consultant was lovely she took in my history, my mum dad and nans. She did the beighton test on my joints which I got a 9/9, She noticed my slightly stretchy skin, very flat feet, history of lots of dislocations, failed ligament surgery on my eyes, very wide paper thin scars, wide deep stretch marks, chronic fatigue and joint pain. She then examined my mum who fits a EDS diagnosis too. She diagnosed me with hEDS and chronic fatigue syndrome. She told me its likely it came from my mums side of the family.
Mysterious Health Issues
While all these things were going on I noticed my headaches were getting more severe making me have to sleep a lot and causing weakness in my legs ,in 2014 I started having some strange seizure/stroke like episodes. I was admitted and had a scan which appeared "normal" apart from signs of small Chiari malformation. I was having several episodes a day. Neurologists couldn't explain it.
This carried on for a few months then stopped when I was put on a med to stop seizures. I was still battling with my knees and hips at the same time to be told there's nothing more they can do other than made to measure braces (KAFO splints) and pain meds.
In 2016 my mum found me unconscious on the floor I don't remember much of that day but I remember being woken up by the paramedics unable to talk or move with a really bad head. One side of my face had dropped they thought I had a stroke. I was admitted again and had more tests. they couldn't see a obvious cause. I spent 3 weeks in a neuro ward. I had to learn to walk again but my leg strength never fully recovered. I now rely on crutches 24-7 and a wheelchair when going out.
It's All In Your Head.
The one sentence that really gets me angry and frustrated is "Its probably psychological symptoms". Drs seem to use it a lot for things they can't explain. One neurologist i saw had never heard of EDS and therefore his answer was you must be making it up! I saw loads of psychologists who all disagreed with the neurologists. I was telling my neurologists and drs for years that my head feels like it could explode. In 2018 I became very unwell with a pounding headache, Vision loss, vomiting, I couldn't sit up or lay down because of the pain. They admitted me for scans and a lumber puncture. The tests showed that my brain pressure was very high so they diagnosed me with another rare condition called IIH. I now have to take more meds to lower the pressure in my head.
We contacted a support group for EDS and Chiari a kind member recommended I get an upright MRI done to see how big the Chiari is and check for spine problems in 2018 I had the scan which picked up some dangerous problems with my skull/neck It dislocates! and the chiari is 12mm!
We sent it to a specialist neurosurgery team in Barcelona who treat EDS patients with chiari and instability. The report came back and it was confirmed I have Craniocervical instability, Atlantoaxial Instability, Brainstem Compression, Cervical Medullary Syndrome and 12mm hind brain herniation (chiari)
I needed more scans and X-rays because he saw signs of problems further down my neck. in July 2018 we flew to Barcelona had the scans and met with the surgeon. He was very concerned with the imaging and I remember seeing the radiologists panicking too. My skull and neck dislocates crushing my brain stem and spinal cord and my neck is unstable to C7. I need urgent surgery to fuse my skull to my spine down to T1 and part of my skull removed to make room for my brain.
So yes my drs here in the UK were right in a way...It was all in my head just not in the way they thought!
My Plans For The Future
If all goes well with the operation and recovery I will set up my own charity to help adults in the same situation having to fundraise for their own surgery or treatment. There is little help for adults with fundraising so I want to help. Other things I plan on doing are...
I am going to set up my own animal grooming business
Learn to drive with adaptions
Set up a community support group for rare diseases.
Raise awareness for EDS CCI/AAI and try to get drs to listen to the specialists abroad changing peoples lives.