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What’s It Like To is a regular listener.co.nz column where New Zealanders from all walks of life share first-hand experiences of living with and overcoming health challenges. Here, Wellington’s Grace Blackett tells Paulette Crowley about living with classical Ehlers-Danlos syndrome.
I was about 14 when I started to get intense migraines. There were also times when my heart would beat really fast. In teenage girls, they often put symptoms like this down to anxiety but mine happened every time I stood up from lying down. It turned out I had developed a heart condition, atrial tachycardia, and also postural orthostatic tachycardia syndrome (POTS).
Years later, when I had surgery to correct the heart condition, things got even more complicated. I woke up with ridiculous amounts of pain in my upper spine. When I explained the pain to my cardiologist, she examined me and asked, “Hang on, how bendy are you?”
She put me through the Beighton screening test for hypermobility, when your joints stretch further than normal. To be classed as hypermobile, you need a five out of nine score. I got nine out of nine. It turned out that just having my head and neck moved in a normal way throughout the operation, for ventilation and positioning, was enough to cause injury to my neck and spine. That’s when I was referred to a specialist to investigate the possibility of Ehlers-Danlos syndromes (EDS).
There are only a few specialists in the private health system who diagnose EDS, so it took a couple of years to be seen. At the age of 22, I was finally told I had classical EDS, which is one of 13 subtypes. It’s an inherited connective tissue disorder caused by a mutation in the gene that creates collagen. So that affects everything, because collagen and connective tissues are everywhere in our bodies. Imagine that you have a brick house, which is held together by cement between the bricks. For someone with EDS, the cement is not very strong.
The typical symptoms of EDS include hypermobile joints, which can cause frequent dislocations. There are lots of associated conditions with EDS that can affect our heart, digestive and immune systems. People with classical EDS also tend to have very stretchy and almost translucent skin, which can make us appear much younger than we are. I’m at university now and get mistaken for a school leaver. People are often surprised to hear I’m 30 years old.
There’s no specific treatment for EDS, so it’s basically about symptom management and trying to prevent the progression of it. We know that if people don’t get medical intervention or proper support for nutrition, physical therapy and localised treatments to injured joints, etc, their condition will keep snowballing.
When I’m at university, where I’m studying to be an occupational therapist, I’ll use a wheelchair. That’s partly due to having POTS (my blood pressure can drop and cause dizziness) but is mostly because of damage to my spine that’s happened over my lifetime. I don’t heal the same as everybody else, so I have chronic pain. And because my muscles are doing all the work to hold my body together, I’m just not very strong.
A treatment that has helped me is prolotherapy, which involves an injection to the ligaments around the joints. It can help create a scar tissue in your body that has the effect of tightening ligaments. A few years ago, my neck was so unstable that I was in a hard neck brace for about six months. But with repeated prolotherapy treatments, I was able to gradually get back enough strength to not be in a brace.
People with EDS can sometimes lose the ability to digest food. I have gastroparesis, a condition related to EDS, which basically means I have really slow digestion. I go through stages of having to be on a liquid diet and when I’m doing better, I have to eat quite small portions. My body’s really sensitive to low and high blood sugar, and I have a lot of allergies. I have to be really careful about what I eat.
Living with EDS, I’ve had to change my dreams. When I left school, my plan was to be a doctor but that quickly became unrealistic. I’ve learnt to adjust and adapt to everything. When I was young, I used to hike and rock climb and do every physical thing under the sun. I’ve gradually lost all of those abilities but it’s still really important to keep myself as fit and as strong as possible. I tend to do physio-based activities for strengthening and then a little bit of cardio on a stationary bike and swimming. It’s hard to find the right balance between staying active while not getting injured or too fatigued.
I’m lucky I have amazing family support and a GP who understands EDS. I’m also able to pay for health insurance, which means I’m not constantly despairing at being unable to get medical treatments. But I’ve been through many of the typical things people with EDS have experienced, like being treated badly by the medical system, being dismissed, or diagnosed with no real support afterwards. Now, with the work I do through EDS NZ, I enjoy helping people navigate the health system and put support in place for them. We also try to improve legislation around provision for treatment and diagnosis of EDS in New Zealand.
I think that a lot of people who haven’t experienced major health problems look at people like me and wonder how on earth we’re living. How do you wake up every day? And I don’t blame them. I used to look at people with significant disabilities and think that. But now I think, “We’ve been dealt a hand, just the same as everybody else. We’ve got to deal with it and if we’re lucky enough to have good support, then we can deal with it well.”
Classical EDS affects 1 in 20,000 - 40,000 people and hypermobile EDS affects around 1 in 5000 people. Doctors and researchers believe the condition is vastly underdiagnosed. The EDS community has adopted the zebra as its mascot to remind the medical community of rare conditions. In medical school, doctors are taught the phrase, “When you hear hoof beats, think horses, not zebras.”
