After 15 years at home watching and waiting for the ticking timebomb inside my baby (teengirl) to once again explode, and as I tried to find the final jigsaw piece that would finally explain what caused her brain haemorrhage, I got a job. And the one thing I feared would happen, happened.
A week after I started what I thought would be a routine hospital appointment for teengirl to be referred turned into a diagnosis of hypermobility and a diagnosis that teengirl is within the specturm for Ehlers Danlos Syndrome (EDS) – a rare connective tissue genetic disorder with several different types featuring many various symptoms and signs and experiencing varying severity.
Teengirl’s type is as yet unknown but given her symptoms and medical history – of which there’s so much more than I’ve shared here – it’s leaning towards Type 4 vascular.
The life threatening type.
Teengirl has been in pain for several years now. Our previous GP repeatedly fobbed us off telling us the burning pain in her knees when walking up hills or stairs was just growing pains and gave her exercises that caused more pain in her knees.
New GPs at the surgery assured us it wasn’t growing pains and referred teengirl for physiotherapy. The fantastic physiotherapist couldn’t understand teengirl’s pain as it reacted and responded unlike anything she’d ever seen before. The only thing she could come up with was perhaps it was linked in some way to the brain haemorrhage. And so followed 6 months of knee clinic where teengirl joined all the pensioners who’d had knee surgery.
But her knees continued to hurt and knee clinic made the pain worse. Soon she was in experiencing the burning sensation pain in her knees walking on the flat..
Teengirl is due to sit her GCSE’s in 2015 and has mock exams next month. So when, in the summer, she began complaining of horrendous pain in her fingers and wrists when she was writing and also pain in her toes we returned to the GP.
Teengirl’s always had ‘weird’ fingers – exactly like her dad’s – they appear to dislocate on their own, she can bend her thumb right back to touch her wrist and bend her fingers in strange ways and at each joint, they also hyperextend.. Her toes are very similar.
This time a hospital appointment was requested with the GP suspecting rheumatoid arthritis or lupus or something else in that vain.
The day of the appointment dawned and off teengirl went with her grampa (I couldn’t get the time off work in my new job). She was upset when I got home from work but also happy because the diagnosis means she’s not mad, the pain she’s in every day is real.
Last week was her first occupational therapy appointment – one I had to fight for as they initially refused her referral!!! But once we were through the door they were amazing and teengirl’s OT has recommended she uses a laptop at school rather than write especially during exams. Teengirl can’t write for longer than 5 minutes without experiencing extreme pain and her handwriting is illegible.
Next Friday teengirl’s got a heart scan at the Evelina at Guys then a few months later a follow up hospital appointment where I will be pushing for genetic and skin tests because she needs a definitive diagnosis even if it means knowing she has a life threatening genetic disorder.
Unfortunately most painkillers don’t help and there’s no cure for either hypermobility or EDS.
**I am at the start of a long journey of education about Ehlers-Danlos Syndrome (EDS). Teengirl is still a long way from definitive diagnosis of type – if she ever gets one. Obviously I’ll keep you updated of our journey.
Right now, I still don’t know all the ins and outs, the facts, the procedures, guidelines or even the correct medical terminology to use in relation to EDS.
So please don’t rely on my blog for facts, please visit Ehlers-Danlos Support UK where you can find out all the information you need.**