Tag Archives: EDS

Fighting with the NHS for Tests

More than seven months after a consultant told teengirl she was hypermobile and had Ehlers-Danlos Syndrome we finally got back to see him.

I had my notepad filled with questions but he refused to answer any of them because it was only a ‘ten minute appointment’ and he didn’t have time.

In fact he would not allow me to tell him about teengirl’s chest pains because there wasn’t ‘enough time’ to discuss it.

So I made the quick decision to get as much out of him in the short space of time we had and pushed for:

  • a referal to a geneticist
  • a brain scan

“Why do you need to see a geneticist when there is no cure for EDS vascular or otherwise?” teengirl’s paediatric consultant asked.

Horrified but not surprised I told him that if teengirl has vascular Ehlers Danlos Syndrome it could kill her. And as she’s already suffered a brain haemorrhage it’s looking likely that it’s vEDS. Adding: “I’d like to know so I can advise teengirl on how best to look after herself to hopefully prolong her life and we’d like more information on how to manage her condition if it is vEDS again to help us prolong her life.

The backwards and forwards of this went on for at least 8 of our precious ten minutes until I finally got him to very reluctantly agree to refer her.

Then we moved on to what may be epilepsy or mini strokes: episodes of absence, uncontrollable sudden shaking hand and tapping fingers that can last more than two hours.

He grilled us and I mean grilled us on these. At one point he demanded to know why I hadn’t seen many of them. I had to restrain myself and force a normal tone into my voice when I said: “Because I’m at work until late and teengirl’s studying for GCSE’s so we don’t spend that much time together.”

He then made teengirl feel stupid when he asked about the most recent shaking/tapping episode. Teengirl said the last one had only been short as it just lasted about 20 minutes.

He looked at her and with scorn in his voice said: “Twenty minutes is not a short time.”

But he did refer her. Just two days after we saw him teengirl got a referral to Young Epilepsy for a sleeping EEG and we’ve just had confirmation she’ll get a brain MRI soon as well as a referral to a geneticist for a ‘discussion’.

When we left the consulting room teengirl burst into tears. She had no idea it would be this hard to get help, advice and referrals. She went in there that day expecting help to be readily available, to be offered even. And instead she had to watch me go into battle for her.

Through all this past year teengirl has been a rock. She has coped with every little thing that this chronic illness has thrown at her without tears. Every day she stoically faces the fear that she may have a disorder that might kill her sooner rather than later and every day she wakes up in pain and remembers that she has a debilitating chronic illness that means constant pain for the rest of her life, a walking stick already and perhaps a wheelchair in her very near future.

Every single day teengirl faces and meets each new challenge that EDS brings her but that day in that consultant’s room he belittled her, he made her feel like she wasn’t important and he made her feel worthless. He made her cry. And he had no right to do that when she is going through enough already.

My child has an incurable and invisible genetic disorder through no fault of hers. She will be in pain for the rest of her life. Why do we have to fight to get help?

I feel like I’ve spent teengirl’s whole life fighting with doctor’s about and for her health. It should be easier than this. I know it’s never going to be simple but I would like not to have to get dressed in my battle gear before we visit any doctor, to not have to steel myself in readiness for the fight. I would like to just be able to have the expectation that what she needs will be made available to her to help her live her life to its fullest.

I’m not under any illusions I know teengirl is just a number, a figure on a budget sheet and a body to be poked, prodded and pushed back out the door.

But what they forget is that she is my child and I will not give up. So don’t bother wasting our precious consultation time arguing with me. 

Please just listen to me and my child. 


FYI – vEDS is a genetic condition caused by an alteration or mutation in gene COL3A1. When this gene is altered it causes a lack or deficiently of collagen type III. This leads to less effective connective tissue particularly in blood vessels, hollow organs and the skin.

People with vEDS have fragile blood vessels, this can lead to major complications including rupture of blood vessels. There is also a risk of damage to hollow organs, such as bowel perforation or uterine rupture. Fragile blood vessels also mean people with vEDS bruise very easily. Thin skin makes blood vessels visible on the upper chest and legs. Occasionally people with vEDS will also have hypermobility of the small joints and wounds will likely take longer to heal, etc,.

 

Since I wrote this blog (and didn’t post it) teengirl has had a sleep EEG but her MRI was cancelled on the morning of her appointment. Because she’s had brain surgery the radiographer wanted to check her medical records to ensure no metal had been put in. Two months and several phone calls later we’re still waiting for that MRI appointment to be rescheduled.

We do, however, have our first appointment at the Connective Tissue Disorder Clinic at Guys and St Thomas in London in September. Where I hope we’ll see a geneticist and hopefully move closer towards genetic testing.

Here are a few previous posts on teengirl’s journey:

The brain haemorrhage

The Jigsaw Puzzle

The Final Puzzle Piece

For more information on this rare genetic condition please visit Ehlers-Danlos Support UK

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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.**

 


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.**


9/9/99

I wrote this blog post back in August this year. After writing it my life changed so suddenly and so completely when, in the space of one week I got a job, that I didn’t get to post it. So here it is now…

Fifteen years ago on the 9/9/99 my life changed irrevocably when teengirl, or baby girl as she was then, got sick.
Less than a week later she was in a neurosurgery ward fighting for her life having already had one brain surgery.
And yet despite that serious surgery doctors were still convinced my baby wouldn’t survive that Thursday night.
Then when she did they didn’t expect her to survive the weekend. Every time they told me this I told them they were wrong. And they looked at me like I was either mad or I just wasn’t hearing them.

Two more brain surgeries later, two blood transfusions and after an e-coli infection in the fluid around her brain failed to beat her the doctor’s finally began to see the strength I saw in her – small smiles began to brighten their faces when they came into her room.

Six weeks later and my baby who was repeatedly expected to die was sent home from hospital looking like her head had a fight with a stapler and a cross-stitcher.

And I attempted to breathe out after the truck that hit me every morning drove away. But the breath was stuck firmly in my stomach, a knot of hard boiled air just sat there.

Before teengirl got sick I chased my dreams so hard that sometimes I hit them with such force I didn’t recognise them through my daze. My twenties were filled with adventures and terror; highlights and lowlights; fights; parties; joy; happiness; discontent.

In my twenties I got married – twice. Engaged 3 times. I also got divorced twice. I had two children, lived in France, Spain and America twice.

I had a great job as a national newspaper news journalist before teengirl got sick. I worked hard, it was stressful but damn I loved it and was actually pretty good at it. News stories I broke made front pages around the world, news stories that I’d uncovered changed laws and saved people’s lives.

And it hurts me to admit, in fact it terrifies me to admit, that I haven’t worked since the 16th of September 1999 and neither have I chased my dreams. I retreated into a space of tightness, exhaustion and fear where I felt safe despite constantly feeling afraid. A space where I had as close to total control as I could.

For the first year after teengirl came home I was a terrified wreck. Neurosurgeons had no idea what caused her subdural haematoma and they’d no idea if it would happen again.

The day I took her home from the hospital teengirl was a ten and a half month old beautiful baby girl with a shaved head featuring black stitches in a criss cross pattern down one side and a multitude of staples running from the front to the back of the top of her head that made people stare in disgust.

Just minutes before teengirl was discharged doctors told me she was a miracle. That I should be thankful she was alive. Then they told me they didn’t know what effect the brain haemorrhage would have on her: they didn’t know if she would walk or if she would talk, what she would be able to do.

Now you all know that teengirl can walk and boy can she talk, but those first few years were terrifying for me.
Doctors told me not to wrap her up in cotton wool, to let her go, let her fall, let her bump her head. When she walked at 18 months that hard boiled breath that lived in my stomach grew wings and flew to my throat with every tiny little wobbling step she took.

I bet you can guess how fast those wings of fear beat when this tiny little miracle with the head that was too big for her body opted to run everywhere instead of walk. Oh good god, how many times could one little girl fall over?

I couldn’t go back to work. Teengirl had first got sick when I was at work. I don’t think I ever forgave myself for not being there that day.

Year one featured terror, year two fear and mild depression, year three more depression with a side order of hope, year four I was diagnosed with PTSD and so on.

And I just never returned to work.

For the past 15 years I have stayed at home with teengirl and teenboy and then baby boy when he came along four and a half years ago. I have been firmly and fearfully ensconced in my comfort zone, living half a life – living an illusion.

Last week I did an NLP exercise that involved looking back 5 years and writing down what my life was like. I then wrote down where my life is now before writing down where I want it to be in five years from now. I was absolutely horrified to realise that my life today is the same as it was not just five years ago but 15 years ago.

And it turns out that I’m actually incredibly unhappy in my not so comfy comfort zone. What will I do every day when babyboy starts school?

I can’t continue to do the same thing every day and expect different results. It’s time for change. It’s time for me to climb out of the space that holds me too tightly perpetuating the hard boiled breath fixed like a fist in my chest, for me to stop trying to control the past, present and future, it’s time for me to let go – to rediscover my dreams and begin to chase them again.

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