We’ve all heard of cancer; the dreaded “C”. While there is still much to learn about cancer, and many lives lost to or affected by it, there are lots of charities to support these people and their families and a lot of money goes into researching it. I’m not detracting from this, or the horrendous treatments used to manage it, having had family members and friends affected by cancer, but I wish the same could be said for Ehlers-Danlos Syndrome.
Lots of people are hypermobile, or so-called “double jointed”, which is what EDS is known for along with stretchy skin. However, not every “double jointed” person has EDS. EDS is so much more than that. Ehlers-Danlos Syndrome is a group of connective tissue disorders caused by a mutation of one or more of the genes that code for the production of collagen. It is hereditary, but some people, like myself, have what is known as a spontaneous mutation. This means there is no family history of the condition, we’re just very unlucky that the gene mutated in the sex cells or in our cells during our development. Think winning the lottery, but you get this debilitating, multi-systemic condition instead.
The mutation in the gene/s means our collagen is faulty. Think of collagen as the glue of the body. Your glue helps hold everything together, keeping your joints in the correct position, keeping your muscles strong, holds your organs together and allows your skin to stretch (up to a point) as you grow or put on/lose weight. For people with EDS, our collagen is more like over-chewed chewing gum. Instead of holding everything together, it stretches easily, is fragile and prone to tearing, doesn’t hold it’s shape and once stretched, it doesn’t go back.
This means our ligaments stretch, leading to hypermobility, dislocations and easily torn ligaments; low muscle tone; our organs can stretch, collapse and even rupture; our blood vessels can bulge (aneurisms) and can be prone to rupture; our heart valves may be floppy and prolapse; our body struggles to hold itself together, meaning we have poor balance and our muscles have to work twice as hard to do basic things as other people’s, and much, much more.
As much as 80% of the body is made up of collagen – hence why those with Ehlers-Danlos suffer so many multi-systemic problems.
‘In 2008 my condition quickly progressed’
Take me. I was born with terrible reflux that would make me stop breathing and turn blue if laid down, and I also suffered with anal fissures and constipation. I had hip problems (probably a dislocated hip) which led to septic arthritis at 18 months old and I was nearly put in a spica cast. Weak eye muscles and astigmatism requiring glasses. Finger deformities. Flat feet requiring orthotic insoles. I met my milestones late and wouldn’t put any weight through my legs and hated walking. However, I managed to have a somewhat normal life until I was 14, aside from having regular physiotherapy.
In January 2008 I became disabled and my condition quickly progressed from there. First, my joints started dislocating, I was in chronic pain and began to suffer from fatigue. I put on a lot of weight due to inactivity and eating the wrong things. I became a wheelchair user. I was diagnosed with EDS a few days after my 15th birthday, and by my 16th birthday I couldn’t eat, couldn’t swallow, had tummy pain, felt full all the time, suffered with constipation, my bladder stopped working and I lost 6 stone in 6 months. I was being fed through a tube; at first a nasogastric “NG” tube, which goes up the nose and then down into the stomach, and then I had a PEG (gastrostomy) tube put in a few weeks after my 16th birthday.
I was put on a lot of drugs to try and get my bowels moving, but all failed. I also started having dizzy spells and couldn’t sit up, so I was bed bound. I was diagnosed with Postural Orthostatic Tachycardia Syndrome and whole gut dysmotility, and I started intermittent self catheterisation to empty my bladder. We managed to, slowly, get me to a point where I could swallow safely so I could drink little bits for pleasure, but it wasn’t tolerated either.
Fast forward 18 months I’d lost 11.5 stones, I wasn’t tolerating or absorbing my feeds, we’d tried feeding me into my small bowel but that also failed, I was anaemic, covered in downy hair, looked awful and now weighed 7 stone; very thin for someone of 6 ft 1. So on the 13th May 2011, after my hospice nurse frantically tried to save my life, I was admitted to hospital and put on Total Parenteral Nutrition “TPN”, which is feeding straight into the bloodstream. My reason for being on it was Pseudo Obstruction which had caused intestinal failure. It saved my life. It would have been days or weeks before I died had I not been put on TPN.
‘I am mostly bedbound’
I had my Hickman line (also known as a central line) put in on the 19th, which goes into my jugular vein and down into my heart, and the other end is tunnelled through my chest, coming out just above my right breast. The TPN is infused slowly through this line, which used to be overnight but now takes 21 hours to run through due to the volume.
Since then I’ve had an ileostomy (stoma bag) formed, a suprapubic catheter put in, diagnosis’ of spinal degeneration and Osteoporosis and am awaiting surgery for a Urostomy (stoma bag for urine), on the waiting list for spinal injections, will be having a heart monitor for a few days and will be having a small bowel MRI as my bowel is backing up and I have to have my stomach on to drain 24/7.
I am mostly bed bound, I cannot walk at all, and have a wheelchair with a special recline function so I can lay myself down when my blood pressure drops. I have to have IV medication as I have no absorption, if not they have to be injected or dissolve and absorb through the gums (buccal). I am connected to my pump 24 hours a day between my TPN and IV medication. My mum has to do all of my IVs as I am not strong enough and my grip is too poor. I get terrible headaches, I live in severe pain, I sleep a lot now and my concentration is poor. I can only sit up for a few hours on a good day, which is extremely limiting. My quality of life is severely restricted.
All this in six years. And they say EDS isn’t progressive! This is my journey with EDS. What I haven’t explained is the disbelief, the people calling me fat and lazy, doctors denying EDS existed, various psychological therapies and assessments I’ve had, being told I had an eating disorder and being told it was all in my head, and had a school phobia (I am proud to say I loved school!). And much of this was after my diagnosis. It can take years to get a diagnosis; I am one of the lucky ones, it only took me 10 months. It needs to be recognised for how much it can affect people. No two EDSers (as we call ourselves) are the same. It’s not just hypermobility and stretchy skin!
Ehlers-Danlos Syndrome can be life-threatening. The vascular type is fatal, with the average life expectancy being 48. The stretchy skin EDS is sometimes known for is most prevalent in the classical type. I have the hypermobility type, which to some is considered the “mild” type, but in reality it isn’t. H-EDS nearly killed me. Twice. The hypermobility type is more than just what its name suggests. This is a whole body condition.
Read the Ehlers-Danlos Support UK website, Google it, share this post; anything. Let’s make our invisible, visible.
A longer version of this blog post was originally published on Lucy’s website, Overcoming Obstacles.
Lucy is a spokesperson for Together for Short Lives, the national hospice and palliative care charity for children and young people which is this week running Children’s Hospice Week. Find out more on the Together for Short Lives website.
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