Kylee Black speaks out on incurable condition for Ehlers Danlos Syndrome Awareness Month

Kylee Black was 22 when she was diagnosed with Ehlers Danlos Syndrome [EDS], a genetic connective-tissue disorder that in Black is so severe her internal organs are stretching.

The 31-year-old believes an earlier diagnosis might have prevented the accelerating progression of her incurable condition, but she will never know.

Instead she is determined to raise awareness of EDS so that other sufferers don't go through two decades of years of pain and anguish.

"If you find out sooner, I think you have a better chance of managing the condition long-term," Black says.

"It would have protected me from a lot of grief, trauma and stress of going through the health system and being questioned."

EDS causes a person's collagen, or the protein that binds cells together, to lose its elasticity which leads to repeated dislocations, broken bones, and joint, skin and ligament problems.

Black, who has severe classical EDS, displayed symptoms from an early age. By the time she was eight she was putting her own dislocated knees back into place.

Unlike other children rough surfaces would puncture her skin and scars wouldn't heal. At age 15 she had her appendix out but it was six months before she recovered from the surgery.

An example of how dislocated Kylee Black's joints become because of Ehlers Danlos Syndrome. Photo / Supplied

The Hamilton woman endured multiple diagnosis' including vision loss at 15, hearing loss at 16, Polycystic Ovary Syndrome, and scoliosis as a teenager.

"I never understood why my body didn't work like other people's did. Especially as a younger child I often wasn't believed."

Black's joints constantly ached and she ended up with complex regional pain syndrome.

"It was a year after that I was diagnosed with Ehlers Danlos Syndrome and finally the doctors starting putting all the pieces together."

The turning point was when Black, then an otherwise fit and active young woman who danced, biked, hiked and ran, injured herself in a kickboxing class.

"I partially tore my hamstring and groin muscles and that stretched the sciatic nerve which is what triggered the complex regional pain syndrome."

Now Black lives with 26 diagnosis' - last month she had 25 medical appointments alone - but the most serious is the continuous progression of EDS.

"All of my main joints dislocate. And my internal organs are stretching. So it affects my swallowing, my digestion, my bowel, my bladder. Basically every organ in my body is affected by the Ehlers Danlos Syndrome."

Kylee Black has lived a life of broken bones, dislocations and stretching skin because of a hereditary connective-tissue disorder. Photo / Supplied

Just the other day Black, who is confined to a wheelchair, accidentally pulled up a layer of conjunctiva from her eye as she tried to take out a contact lens.

"Some of my friends [with EDS] can't eat. Some of my friends can't sit up without fainting and some of them have seizures.

"Some of them spend most waking hours vomiting because of the severity of the digestive tract failure. It's just horrific and barbaric."

Rheumatologist Dr Fraser Burling, an expert in EDS and Black's specialist, said the incidence of the hereditary syndrome has not changed but recognition is rising.

The are six types of EDS, including classical and vascular, which affects the vessels and is less common.

Between one and 1000 and one in 5000 people are thought to have classical EDS worldwide.

Treatment ranges from medicines to treat the side effects of EDS such as low blood pressure and soft tissue injuries, to surgery and pain medication.

Burling said an early diagnosis can help people avoid lifestyles that would lead to earlier injury such as contact sports.

"Unfortunately the greatest suffering for EDS patients is being told their condition is all in their head, or they are factitious, or that a parent is beating up a child when the child has spontaneous bruising due to EDS, not mistreatment."

Burling said many patients took their own lives, including two this year, because they were not getting adequate treatment.

"This is a travesty and must stop."

The New Zealand Organisation for Rare Diseases is currently working on a clinical guideline for GPs so that EDS is more quickly recognised.

Black off to conference in Sweden

Kylee Black and other sufferers of Ehlers Danlos Syndrome want awareness of the incurable condition. Photo / Alan Gibson

Kylee Black is the only delegate attending an international disability leadership conference who has requested disabled access.

The public speaker in disability advocacy thinks the fact she might be the only person confined to a wheelchair attending the conference in Sweden gob-smacking.

"A lot of it is CEOs of disability organisations attending conferences and not actually people living it, but in New Zealand we want to see that change.

"We want to ensure those with disabilities are on the frontline of disability leadership."

Black is using her growing profile to influence change in the sector and wants to remove the stigma around disabled people.

To that end she is preparing for the month-long trip to Europe and the United Kingdom on May 20 to attend the International Initiative for Disability Leadership conference.

The trip is no mean feat. Black must lie flat for the flights, wear a neck brace, has a fully-powered wheelchair, a support person, and will next week undergo a 100-hour infusion of ketamine to manage the pain.

She will vlog the journey, assess airports and hotels for their disability access, learn about leadership, meet international experts in EDS and other sufferers, before speaking a range of events on her return.

"I want to use my story to challenge people to see life differently and to live differently, to capture the good memories and moments, because that's where real life is.

"If you lose the ability to stand, or walk, or eat or pee, it would be a blessing to get it back. If it's a blessing to get it back, it's a blessing before we ever lost it.

"But why do we have to lose something before we think about and value that which we have today?"