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

3D Bi-Aural Sound at Cornetto Cinema

Teengirl and I love the unusual and unexpected which was a really good thing when we caught a screening of Cornetto UK’s innovative immersive movie and theatre experience Two Sides.

We’d been given the barest of details so neither of us had any idea what to expect when we turned up at Westfield Stratford last week – FYI it is the biggest and tallest mall I’ve been in outside of America!

And we got the unexpected!

Cornetto UK recently launched their Cupidity short film Two Sides. The movie combines a teen love story with the usual problems teenagers in love have with 3D bi-aural cinema sound. It also manages to seamlessly combine it with immersive theatre to create a ‘truly unique storytelling experience’ that enthralled both Teengirl and I.

cornetto cinema box office - pop up 3D sound cinema with immersive theatre

Our ticket to entry was a Cornetto. I had strawberry and Teengirl had a classic served up Starbucks style in a dual Cornetto holder with our names written on with tiny lovehearts drawn beside them.

Cornetto ‘tickets’ in hand Teengirl and I switched on our headphones, set them to the correct channel and made sure we were wearing them the correct way (blue on the right ear) before taking our seats in the tiny, three-row, intimate cinema.

a cornetto was our ticket to entry

 As the movie began and the small room erupted in laughter as a man in the front row took his headphones off, looked at them and put them back on the right way!

And that’s an important point – the sound coming through the headphones is different, a bit weird and if like me you’ve never heard 3D or bi-aural sound before, slightly unexpected.

Before the movie started I could hear ‘voices’ in my ears and moving between my ears as the sound of people chattering was piped in. When I closed my eyes I felt as though I could ‘see’ where in the room these chattering people were standing.

Once the movie started I heard the male character’s voice in one ear and the female lead in the other and I’m sure I could hear them in different ears at the same time. It was as if the sound was all around me and inside my head. At first I didn’t recognise this was happening, then when I realised it, I paid attention and then forgot about it as I got sucked into the movie that explores ‘the trials and adventures of teen love’.

The movie was described to me as being in 3D sound but I quickly discovered it was more like 4D all round. And that’s all I’m going to tell you.

I really want to tell you more but I can’t because I don’t want to give you any hints as to what happened next. It’s much more effective if it’s a surprise. Believe me your experience will be so much better if you don’t know what’s going to happen and you expect the unexpected.

Now go and see it. Immerse yourself in it, hear it like you’ve never heard anything before, feel it, love it and then tell everybody else to go see it – because you will want to.

The pop-up cinema runs until August 4th at Westfield Stratford and it’s free for everybody.

Two Sides movie with 3D and bi-aural sound combined with immersive theatre

Cornetto UK describes Two Sides as part of a series of short films where four international directors have sourced romantic inspiration from all over the world to ensure each film shares a beautiful and compelling love story.

This is My Peri-Menopause

Nobody told me that peri-menopause would turn me into a hypercritical, overthinking, overheating mess who woke up with sickness inducing anxiety after a sleepless night invaded by night sweats and chills.

Then there’s the headaches, brain fog, exhaustion, depression, poor concentration and memory that come and go with such intensity and extremeness but little cyclical connection that I began to believe I was losing my mind.

I thought ‘the change’ would pull me from my 40s into my 50s ranting and raving at the world, kicking and screaming against the unfairness of being female.

But no I instead feel hollow, as if someone has taken a spoon to my insides and scooped out all my anger, all my drive rendering me a bit pathetic, sickeningly nervous and seriously sweaty.

The woman I am today is such a stranger to me I couldn’t even conjure her up in my imagination.

peri-menopause has changed me and I hate it

I turned 44 last week and for the past couple of years I’ve been asking my doctor to do something about the hot flushes, headaches and night sweats I’d been sporadically having.

Initially I was told, at 41, that I was too young to be peri-menopausal and refused tests. Then at 42 instead of investigating where my hormones stood another GP put me on the contraceptive pill to ‘help with my symptoms’.

But about eight months ago my original sweaty symptoms received the very unwelcome additions of anxiety, depression and lack of confidence, with a side order of insomnia, brain fog and concentration problems.

Recently, despite taking Logynon without fail, all the symptoms have increased in intensity and the length of time they spend torturing me. They turn up almost every month regularly but without regularity – I never know when they’re coming they just turn up when they feel like it and knock the absolute fuck out me.

My periods only last for two or three days but are so heavy I need two extra long, extra thick towels at a time.

I’m a self-confident person. I believe in me and I believe in my ability. But when the emotional shitstorm of hormones attack me I can I can barely bring myself to speak to people. I definitely couldn’t even consider standing up for myself or arguing my point (not the greatest symptom to have in a newsroom!). And I question my judgement on everything making me a hypercritical overthinking (overheating) mess.

I can cope with the physical symptoms – I have been for at least a couple of years now – but I can’t cope with this emotional super killer downward slide .

I’ve been to see a new GP who can’t believe I’m experiencing these symptoms while taking the pill!?!

She’s sent me for blood tests to check more than my hormone levels just in case it’s something else. We’re both aware that taking the pill will affect how my hormones appear in the results.

We’ve discussed HRT options and I’m most likely going to go down the Mirena coil route for the constant progesterone and a oestrogen patch.

A friend suggested I go down the ‘change your menopause with diet’ route instead of pumping my body full of synthetic hormones that are so bad for me.

I said: “I’ve put hormones into my body for years taking the pill. So I will happily ram a bucketful of hormones into my system if it makes me feel like myself again.”

Peri-menopause Symptoms Include:

Night sweats

Night Chills

Hot flushes

Weight gain


Disturbed sleep





Brain fog

Memory problems

Concentration problems

And so much more because it turns out every woman’s menopause is different.

If you think you may be experiencing peri-menopause symptoms please visit your doctor. And don’t be fobbed off like I was, state your symptoms and what you believe is wrong with you and how you’d like to be treated.

It’s your body and its your peri-menopause.

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.**


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