Home Health & Fitness Raising awareness for Ehlers-Danlos Syndrome this May

Raising awareness for Ehlers-Danlos Syndrome this May

Hannah Simpson and Mason Chapman

May is Ehlers-Danlos Syndrome Awareness Month, with groups and individuals across the globe coming to gather for raise awareness for this rare condition. Ehlers-Danlos Syndromes (EDS) are a group of 13 inherited connective tissue disorders caused by different genetic defects in collagen.

11-year-old Mason Chapman has been managing a diagnosis of EDS since he was four, after a keen-eyed optometrist spotted the symptoms.

Mason’s mother Hannah Simpson explains, “Our optometrist John was able to tell straight away from the way Mason’s eyes worked together that he had Ehlers-Danlos, which was very fortunate because most kids with EDS don’t get a diagnosis until they’re in adolescence.

“And one of the biggest and most important things for EDS is management – physiotherapy, hydrotherapy, etc – and Mason’s been able to do it from a very young age.”

Except for one subtype (hypermobile), all variants of EDS are diagnosed by genetic testing. Each subtype presents differently, but symptoms that are common across many of them include generalised joint hypermobility, and skin issues, including stretchy or fragile skin – but there is no set of symptoms for just EDS. For Mason, his heightened pain response, particularly when combined with joints prone to dislocation, is the main aspect of living with EDS that he wants people to have a better understanding of.

“The pain is enhanced a lot and it makes practically everything harder,” he said. “EDS also makes my skin stretchier, and makes it so I can dislocate joints a lot easier. I also get really big electrolyte imbalances.”

Managing the fatigue that is a byproduct of pain and a body working overtime to stay together is also a challenge. Hannah says, “When Mason was younger, I had to give him a piggyback home from school, because he was always exhausted at the end of the day.”

Mason says, “Normally I’ll get tired if I’ve been doing something really big, like a sports carnival – or the last day of the year six camp, I had to go home early.”

Mason first experienced a dislocated joint at the age of seven, playing with friends at King’s Park. Hannah says, “He was on the playground, going up the stairs with his arm on the rail and someone bumped into him.”

“My arm just popped out of place,” said Mason. On the verge of heading to hospital, a bystander gave Mason some M&Ms and a packet of chips, and the sugar hit enabled him to calm down and figure out for himself how to pop his shoulder back into place.

“One of the things with pain is all of your muscles tighten up as a response, and with Ehlers-Danlos, they actually spasm,” said Hannah. “When that happens, it makes it very difficult to get the joint back in.

“As a general rule, if he has electrolytes and paracetamol and is given some space, he can sort himself out,” said Hannah.

Mason says, “It is kind of different every time…I just have to feel around. I need to feel the little bone in my shoulder and then try and push that back.”

There is a misconception that because the joints are easy to displace – and because Mason manages to fix them without medical intervention – that there is no pain. Hannah says, “There are a lot of adults in particular who are not good at managing this – they’re like, ‘Come on, you’ve got to snap out of it.’

Having to manage a chronic illness has seen Mason develop resilience, adaptability, and empathy beyond his years. Hannah says, “He manages it phenomenally. And something that I’m incredibly proud of – that I know that I didn’t demonstrate at his age – is his ability to verbalize if something’s not working for him. If he needs help, if he’s having a rough time and he needs to get some feelings out, he is comfortable doing that.

“Mason has worked really hard on self-regulation strategies and managing the fatigue, pain, and anxiety. His school attendance is up and generally he will only miss school with a viral illness.”

Hannah says having a team of experienced allied health professionals with a solid understanding of EDS has not only helped Mason manage his symptoms, but helped her understand his experience better.

“Having people who can explain things to me so that I can help support Mason has been key. I hadn’t realized the issues surrounding pain until we had our first emergency hospitalization after he’d had a fall off playground equipment, and his back had gone into a spasm.

“The physiotherapist that came and spoke to us in emergency explained it so perfectly, and then we knew he wasn’t just complaining, or looking for attention, or doing anything other than letting me know the level of pain that he’s in. That’s helped me to support him much better than I was.

“In addition to our optometrist, we have an amazing podiatrist who specialises in hypermobility disorders, and an incredible physiotherapist who made recommendations such as compression pants which have made a great difference.”

The name Ehlers-Danlos Syndrome comes from Edward Ehlers, a Danish Dermatologist, and Henri-Alexandre Danlos who was a French physician. Both wrote reports in 1901 and 1908 separately, and then collaborated to create the description of EDS. It is considered a rare condition, with 1 in 5000 people diagnosed overall, and some of the vascular EDS subtypes are even rarer, with just 1 in 200,000 people affected.

Friday 17 May is Reds 4 VEDS Day, where people are encouraged to wear red to raise particular awareness for the vascular Ehlers-Danlos variants – if you want to join in you can utilise the hashtag #reds4veds and share your photos to social media. If you would like to learn more about EDS, head to Ehlers-Danlos Australia.