My story: the rocky road to a diagnosis
I am 28. I am 4ft11, and I am disabled.
It’s time to tell my story. I’m not a celebrity, I’m not a high profile journalist, so I doubt that people will be remotely interested in what I have to say, but I’m telling it anyway. Why? Because it has to be told. For me. For others with undiagnosed congenital disabilities.
For 28 years no one knew what caused my disability. When I was born, my deformities were a total shock to my unsuspecting parents. The first sight my father had of his youngest daughter was through the eye of a camera as I was lifted screaming out of my mother.
The surgeons panicked. No one knew what was going on, no one knew what was wrong. Here was a tiny baby, with three digits missing on her right hand and right foot, a slightly asymmetrical face and a strangely formed ear. Later, they would discover that I had no sight in my right eye, but it took the dogged persistence of my father for them to realise this.
They took me off for tests. What else would they find? Would I live?
I did, but in the early days, it was touch and go. I didn’t feed, I lost weight. No one listened to my parents who watched over me day and night. Eventually, it was discovered that I had indeed lost weight and they began to tube feed me.
As traumatic as my early weeks were for me, I cannot imagine how difficult it was for my parents who searched desperately for answers and got none. It must have been like feeling around in the dark.
I was slow to crawl, walk and speak. My severely deformed right foot caused me no end of difficulties – I had my first foot operation at 6 months old.
When I was two I had a prolapse. My bowel turned itself out due to months of severe constipation and for years after I had to drink this sickly medicine to help me “go”.
Toilet training was a nightmare for my parents – I was still having accidents up until the age of 9.
Around that time, my mobility got worse. The difference in my leg length became more pronounced and a consultant at a London hospital bluntly told my parents that amputation would be the only way forward.
We fought against it. My parents searched high and low for an alternative, desperate to save my foot if we could. Then, several months later, my mother found out about a pioneering new treatment to correct leg length.
At the time, Sheffield Children’s Hospital was the only hospital that carried out the leg lengthening procedure.
I was too young to understand, but my parents were determined to arm me with enough information so the decision would be mine. They explained as best they could – but how do you possibly explain to an eight year old what would happen?
Even so, we all elected to save my foot. It was a 5 and a half hour surgery.
Twenty years later and I still remember waking up after the anaesthetic and asking the nurse to take away the pain. “It hurts” I muttered, as darkness flooded over me again.
No one could have prepared me for what they had done, no matter how many photographs they showed me.
My leg was in a metal frame – I had 22 pins going all the way through my bone and out the other side. The idea was that by breaking a bone during surgery and using the pins and frames to hold the break apart, new bone would grow in the gap. But it meant stretching the gap using spanners while I was still awake, several times a day. And the pin sites needed cleaning and disinfected constantly.
I wore the frame for 18 months, during which time I was off school. Friendship groups changed, people moved on, and by the time I returned, nearly a year later, it was as if no one remembered me at all.
For the next few years I wore splints to help me walk and for a while, it seemed that my mobility problems were over, even if my social problems – and bullying – were just beginning.
Kids can be unkind at the best of times. But the worst years of my life from age 11 to 16 – will stay with me forever. Even now, I cannot return to my hometown without panic attacks. I do not think I will ever be able to set foot in a school again. Even seeing groups of kids at a bus stop, my legs still go to jelly as childhood memories come flooding back.
Not surprisingly, my depression began around age 12 and by the time I was 14, I started to self harm and I made several attempts at my life.
Meanwhile, my mobility got worse. From excruciating foot pain, to problems with my eye, to abdominal cramps, I missed a lot of schooling. I was shy with absolutely no confidence or self esteem and as far as I was concerned, I had nothing to live for.
In such circumstances, it was relatively easy to decide to undergo a foot amputation after I had become wheelchair bound for several years. What had I left to lose? I was fed up of the various splints the hospital had tried over time, I didn’t want to undergo another leg lengthening operation and I was fed up of having my toes tied together with Velcro as directed by the hospital. (Yes, you read that right).
The teenage years
In some ways, my amputation was the making of me. It should have been a truly difficult time – and in parts it was – but I made friends during my hospital stay and it made me realise that my social difficulties weren’t all down to me.
I managed to leave school with good GCSES and went on to study Art and Psychology at sixth form. It was there that I came out of my shell. I made friends, large groups of friends – something I never thought possible.
At 17, I started living the life of a – dare I say it – normal teenager. I dabbled in drugs, experimented with make-up, went through the goth phase… but something wasn’t right.
Despite the huge positive change in my circumstances, I was desperately unhappy. My self-harming got worse, I had flashbacks, I was ultra paranoid that my friends weren’t really my friends.
I went to university near Manchester to study Art & Design. It wasn’t the best university experience, but looking back, it was good for me to live so far away from home so I could start again, away from childhood memories.
But I wasn’t happy. My cutting episodes got deeper, I had freak outs, my mood swings got out of control, and in 2004, after an intense online relationship with someone I knew nothing about, I took a cocktail of pills (about 30) in the hope that I’d never wake up again.
And I nearly didn’t. I have very little memory of this time, only that my mother, several hundred miles away apparently had a “mother’s instinct” that something was wrong, and asked my flat mate to break the door down to check on me. It was 12 hours later and they found me in a coma, having vomited and urinated in my sleep.
I was in hospital with pneumonia for 2 months, no nearer to a mental health diagnosis and no nearer to feeling better.
Somehow, I scraped through my degree. I decided to take a year out, where I got a job at a publishing company and went off to Romania – alone – for 6 weeks as a voluntary reporter.
I’ve had several life changing experiences, but my time in Romania was one of the most significant. I could quite easily write pages and pages of my experiences out there – the -24 temperatures, the scenery, the people – but I think unless you’ve experienced it yourself, it all sounds a bit evangelical.
Later that same year, I embarked on the one course that would determine my path in life. I forced myself through a gruelling postgraduate masters in Magazine Journalism.
Struggling with a mental health illness not to mention a physical disability is hard enough, but going through it in addition to studying as a trainee journalist should have been pretty damn impossible.
But I did it. I passed. I became a qualified journalist.
It’s taken me nearly five years to get where I am today. It took several heartbreaks, more hospitalisations, a mental health diagnosis of Borderline Personality Disorder (and incredible DBT treatment) and even a sexual assault. But I did it. I survived it all.
I am now living with a wonderful, supportive partner and I work for myself, under my own steam.
I had to succeed, because I knew, that by making a career for myself, I’d have won. Won against a society that said I would never get a job. Won against well-meaning people who said I should work in a hospital because I was disabled. Won against my childhood bullies who told me I would never come to anything, that I was so ugly, people would vomit if they had to so much as touch me. I won against the lot of the f*****s. I hope some of them are reading this now.
And up until a few months ago, I finally came to terms with my disability. I came to terms with the fact that I would never know what caused it, never know why it happened, never know if it was genetic or a simple mutation. My joining Twitter and meeting huge numbers of amazing disabled people helped me get to this stage.
But then, yesterday, my world changed.
I was diagnosed. After 28 years of hoping, searching, wishing. I was diagnosed. Our genetic counselling appointment at Great Ormond Street Hospital was the appointment that I pinned every one of my hopes on, even though I knew it unlikely we’d get answers there and then.
Except we did. Or rather, not confirmed answers – we’re waiting on blood test results (3-4 months), but I’ve never seen a doctor so sure of anything before.
“How sure are you that this is the right diagnosis?” I asked in a daze. She nodded, looking at me straight in the eye. “I’m pretty sure,” she replied.
And there it was. I was diagnosed. Goltz syndrome.
I still don’t know what to make of it all, nor can I find the words to express how this has changed my world.
Goltz syndrome is caused by a mutation on the X chromosome. Up until 2007, there had been no way of testing for it. But five years ago, researchers funded by the National Institute of Health discovered the gene mutation responsible for around 75% of those with Goltz syndrome.
It is characterised by an asymmetrical face, pointy chin, a “simple ear”, skeletal deformities, various skin conditions and microopthalmia. Not every Goltz child has every one of these conditions – but many of them, including me, suffered with rectal prolapses, limb deformities and sight problems.
It’s like a jigsaw puzzle, with pieces you never knew existed, suddenly appearing and fitting together. Even seemingly unrelated conditions – recurrent UTIs, abdominal cysts and dermoids, brittle hair on one side of my scalp – are some of the characteristics of Goltz.
Now we must wait for the blood tests to hopefully confirm my first diagnosis after twenty eight years.
Thank you for reading.