Tag Archives: ehlers danlos

The final puzzle piece

Blue skies were hidden above grey mist as we walked along the Southbank to the Evelina. I saw her heart on the screen, heard its beat sounding exactly like it did when my belly was filled with her. The “whuuf, whoof, whuuf, whoof” filled the ultrasound room and I watched the tropical storm of colours light up her heart on the screen – red, blue, yellow – like I was watching the weather channel predicting storms ahead.

Every time the sonographer paused my own heartbeat took a pause as I tried to see what she was seeing in my daughter’s heart.

The ‘specialist’ doctor – who didn’t even know who had referred teengirl or even the name of the genetic disorder – explained that her heart was fine in relation to the genetic disorder (that’s exactly what she called it!) but the sonographer had spotted a very small leak in her mitrial valve, but it was nothing to worry about and not related to the genetic condition. I took shorthand notes as I have always done with all of teengirl’s medical appointments.

After teengirl’s appointment we took joy from the little things London laid on for us – the little boy going “wheeee” as he slid down the Evelina’s slide we were too tall to slide on. The smell of Christmas at the German market, the busker’s gravelly voice as he sang “Driving Home for Christmas”, the didgeridoo played with such passion. And the knowledge that right now Ehlers-Danlos Syndrome isn’t eating her heart.

Over the past four years I’ve watched teengirl deteriorate but none as fast as this year. She’s gone from being a young girl who spent hours jumping on our trampoline to a 15 year old, old women who struggles to walk for five minutes, can’t write for ten and finds climbing stairs an almost impossibility such is her pain.

Teengirl was at the Evelina children’s hospital to have her heart scanned. Just two months before she’d been diagnosed with hypermobility in her small joints and being in the spectrum of Ehlers-Danlos Syndrome – a rare genetic disorder of the connective tissue with several different types. One of the first things they do is scan the heart to ensure there are no vascular issues caused by EDS.

Because teengirl suffered a subdural hematoma (brain haemorrhage) at nine months old that neurologists failed to investigate reasons for, and her hypermobility is focused on her small joints – with subsequent pain in her large joints – her consultant is concerned that she may have vascular EDS type 4.

Over and above all the physically debilitating problems vascular EDS serves up it can also cause blood vessels to erupt and cause serious vascular problems.

It is life threatening.

holding my breath

That afternoon I exhaled, just a little bit, after holding my breath for two months. As I drove home from work I realised my chest had been slowly filling up with tears over the past couple of months. My shoulders have moved closer to my shoulders, my body tight as a racehorse ready to run, every sense on hypervigilant alert.

My PTSD was back with a vengeance.

I knew the day itself would bring me emotional flashbacks. But it’s only with hindsight I realise I’d been suffering from them every day as the day rushed towards me.

It didn’t matter the outcome. What mattered was reaching it without falling down, without letting go. What mattered was making sure the tears stayed in. What mattered was making sure my protective cage was around me holding me up.

What mattered was managing to continue to breathe without breath.

What mattered was making sure I didn’t let her down, that I was her scaffolding, the wall for her to lean on, the sweeping brush to collect up her shattered pieces should the worst happen.

What mattered was that she knew I was there for her and always would be.

Afterwards, I felt so fragile I was scared I was going to break. I should’ve been happy but all I wanted to do was get under my duvet, curl up and sleep for a whole day cocooned in slumber, free from dreams of hospitals and rollercoasters, doctors and needles, judgement and humiliation.

**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.**

 

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Fitting the puzzle pieces together

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.**


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