My life with Kyphoscoliotic Ehlers-Danlos Syndrome
April 6, 2019
When I was born, I was referred to by some healthcare ‘professionals’ as “the baby with the eyes”. I was born looking like I’d done 10 rounds with Mike Tyson. Two black eyes and extremely floppy. Floppy Poppy – a conveniently rhyming description.
The first indicator of anything being wrong was the moment the midwife saw me. My eyes were so black & swollen you couldn’t see them, so it was initially assumed that I might be blind. Turns out the black eyes were caused by me being so floppy in the womb, my face would hit against my mum’s pelvis as she walked around. In the words of N-Dubz… Ouch. The next thing they noticed was how weak and floppy I was. A living rag doll – sounds like some kind of weird Channel 5 documentary.
So due to the symptoms I presented with, my parents were told I most likely had a condition called Spinal Muscular Atrophy. They said I’d have about a year to live. A muscle biopsy was performed to confirm, and for the first 6 weeks of my life, my parents believed they had a very short amount of time left with their child. At 6 weeks old, as an apparent result of the muscle biopsy, I was (mistakenly) diagnosed with Muscular Dystrophy. My parents were told that the initial prognosis of me having one year to live no longer applied, but that my muscles would still deteriorate as my life went on.
My childhood felt normal enough, even with my delayed motor development. I started walking when I was about 2 & a half – equipped with my walking frame, splints, knee pads, and elbow pads! By the time I got to school, I no longer needed my walking frame. I tried to run around the playground like my friends, and I still have the scars to show it. My knee pads didn’t really help, and my ‘cigarette paper skin’ (as the doctors describe it due to it being extremely thin) did not get on well with concrete! As an adult, a drunk man once told me my knees looked like a car crash! I really don’t mind them though (the scars that is, not weird drunk men). Who hasn’t got scars?!
Teenage Years/EDS Diagnosis
When I was about 13, two very important things happened: Firstly, I decided I was way too cool to ‘look disabled’, so I ditched the splints & knee pads I’d relied on throughout my life. I went through that typical teenage phase of not wanting to be different. So, I stopped wearing them, and thought I was the coolest girl in the world walking into school in my skirt with no Forrest Gump style contraptions on my legs! Turns out there was absolutely no correlation between the Forrest Gump look and my lack of coolness. Here I am now, 25 years old, still waiting to be the coolest girl in the world. Maybe one day.
I absolutely love my wheelchair now and I’m not ashamed to ‘look disabled’. I won’t write too much about that here, as I’d like to do a separate post specifically about being a part-time wheelchair user. But in summary, big up my wheelchair.
Anyway, the second and even more important event which took place was the moment my consultant told me she was pretty sure I didn’t actually have Muscular Dystrophy at all. She believed I actually had a condition I’d never heard of: Ehlers-Danlos Syndrome. As she described the symptoms of the condition, it all made sense. I always wondered why I wasn’t at the stage of the illness I should have been, if I did have Muscular Dystrophy.
EDS meant being floppy, EDS meant paper-thin skin, EDS meant everything I’d experienced. So, I was sent for testing, and was given my diagnosis based on my clinical presentation – my joints, my skin, my scars, my medical history. The Professor explained that there were a number of different types of ED, and said that he thought I most likely had Kyphoscoliotic EDS. This couldn’t be officially confirmed without genetic testing, and at the time, I was told this would involve a skin biopsy, something I didn’t want to go through. I decided that I didn’t need to know, and that if I wanted to know as I got older, I’d find out. Looking back, with the knowledge I now have that Kyphoscoliotic EDS can carry some quite serious health risks, I wish I’d been given that information, so that I’d understood the importance of knowing what type I had.
When I was about 20, I decided it was important to find out what type of EDS I had. I met with a team of geneticists, who also suspected Kyphoscoliotic EDS. Even though I didn’t actually have the 1 piece of major criteria – kyphoscoliosis. I provided a urine sample, and they got back to me a few months later to invite me back to meet with them. I was officially diagnosed with Kyphoscoliotic EDS, caused by a mutation of the PLOD1 gene. The team of geneticists and genetic counsellors explained to me that this is a very rare type – they knew of only around 70 people ever diagnosed with it. They told me about the risks that came with this type of EDS – risks including arterial rupture, aortic aneurysms, and retinal detachment.
Living with a kEDS Diagnosis
I see different specialists for different aspects of the condition – a cardiologist, an ophthalmologist, a neuromuscular consultant, a physio, an occupational therapist. Fortunately, my heart checks always come back clear. I’ve been told pregnancy would be extremely tough on my body, but I didn’t really need a doctor to tell me that. I have a straw in my drinks half the time because I can find a glass to hard to carry, never mind carrying a whole human being. I think my body would just disintegrate! Luckily, I definitely don’t want kids anyway. If I did, I’m sure that would be a really difficult thing to accept. But I genuinely can’t think of anything worse, so I’m absolutely fine with the fact that I wouldn’t be able to.
A few months ago, I got up to go to the toilet and when I turned the light off, I could see flashing lights. I asked my boyfriend if he’d seen them too. After I realised it was something going on with my eyes, I headed to Specsavers that morning. I explained to them what had happened, and they told me I should get straight to the eye hospital. They diagnosed me with Posterior Vitreous Detachment. Basically, we have some kind of gel behind the eyes, and mine is starting to detach. It usually happens when you’re over 70, but mine’s just happening about 45 years early. It’s alright though, it’s only if the gel pulls a bit too hard on my retinas causing them to detach that problems would arise, but hopefully that won’t happen!
Yeah, some days can be shit & I can get angry and upset. But who doesn’t have days like that, in any situation?! The majority of my life is great! I have loads to look forward to, and I have amazing people around me. My amazing friends, my amazing mum, my amazing boyfriend. Life is good!
If you’ve scrolled to the bottom of this post to see how long it is, and you’ve thought, nah fuck reading all that, here’s a link to a video where I talk about it.