Samantha Smith, 30, Greater Manchester explains how her rare conditions mean her brain could be crushed...
I’ve been in pain all my life.
Growing up, I assumed it was normal to have painful hips, legs and back. Doctors put it down to growing pains.
As I got older, I suffered with migraines and fainted a lot. Yet I managed to get through school.
Just before my final year at Manchester Metropolitan University, in 2007, I fell pregnant with my first child.
Suddenly, my health went rapidly downhill. The pain in my hips and back was so intense, I had to crawl. My hips partially dislocated a lot, and my pelvis fractured.
I was told it was due to hormone changes caused by pregnancy. But then I had extreme itching all over my body.
‘It’s so bad, I take a scouring brush to bed with me at night,’ I told the midwife.
Turned out it was a symptom of obstetric cholestasis – a pregnancy liver disorder that causes bile acids to build up in your system.
I was confined to bed and given steroids to mature the baby’s lungs in case he needed to be born early.
Somehow, I finished my Psychology degree while in hospital and, in October 2008, my son Jensen was born, a healthy 7lb 7oz. But his birth was traumatic as the pain relief didn’t work properly.
Then, when Jensen was 4 months, I fell pregnant again, and things were even worse this time.
My hips kept dislocating.
The baby stopped growing, too, so at 34 weeks I had an emergency Caesarean.
But, as they sliced into me…
‘I can feel it!’ I screamed.
The spinal block hadn’t worked, and nothing they could do would make it. So I coped on gas-and-air and morphine. Horrific!
My daughter Brooke weighed just 4lb and was rushed to Intensive Care.
Meanwhile, I had to have blood transfusions.
But, back home, I’d no idea what had caused the problems. And more strange things started happening…
When Brooke was 6 months old, I lost the sight in one eye.
‘It’s a retinal haemorrhage,’ doctors explained.
I suffered more headaches and seizures, as well as gynaecological problems.
‘What’s wrong with me?’ I pleaded – but no-one knew.
Gaining a master’s degree in 2014, I opened my own psychotherapy clinic.
I also started researching my condition.
EDS – that’s it! I realised in August 2016.
Ehlers-Danlos syndrome (EDS) is a group of rare, inherited conditions that affect connective tissues.
‘I’ve got EDS,’ I sobbed to my rheumatologist.
‘It’s extremely rare and you’re not showing any signs,’ she explained.
‘I am,’ I insisted. ‘I dislocate most of my body every day, my bones fracture, I have seizures, I’m forgetful…’
Referred to a geneticist last December, it was confirmed.
Also, the children would have a 50 per cent chance of having it, and could be tested.
It’s so rare, NHS doctors weren’t sure of the best treatment, so I used my savings to see a private specialist.
He explained I’d also developed craniocervical instability (CCI) and atlantoaxial instability (AAI).
The CCI means my neck is too weak to hold my skull, so my brain’s being crushed, and the AAI means the two top vertebrae are unstable and dislocated, putting me at risk of internally decapitating myself.
‘Your only hope is surgery,’ the specialist explained – but there weren’t any surgeons in the UK trained in the risky procedure. I’d have to go to Spain or America.
Desperately trying to take it in, I learned it’d cost at least £150,000 for the first operation alone. A single mum, I didn’t have that sort of money. I’d already had to stop working.
‘We’re doing a bungee jump this weekend,’ my friend said. ‘We’ll use it to start fundraising for your surgery.’
It was time to tell the kids.
‘Will you die, Mummy?’ they asked me.
‘Without surgery, yes,’ I replied, honestly. ‘But we’ve started fundraising, so will hopefully be able to pay for it.’
Word spread, and friends, family, even strangers began fundraising for me. There were auctions, car washes, Abba nights… The money rolled in.
We’ve currently got £142,000 – well on our way to paying for my first, life-saving op.
During the procedure, the surgeon will place my skull properly on my neck and fix the dislocations, remove ribs from my back to use in my skull, and fuse the skull and neck in place to take the pressure off my brain and spinal cord.
It’s likely I’ll need at least three more ops after that, so the overall cost will probably be more like £200,000.
I feel utterly terrified, but grateful for all the fundraising, and desperate to have surgery.
I wear a neck brace, and am usually in a wheelchair or lying down to ease the pressure.
I’m in constant pain. I go into shock if I stand for long,
I have tachycardia, tremors, disturbances with vision and hearing, as well as memory problems, fainting, vomiting blood, and limb weakness.
Even after surgery, I’ll always be in pain. But all I want now is to raise enough money to have the operations so my children don’t lose their mum.
To donate, visit Samantha’s fundraising page.