It took 44 years to finally receive the correct diagnosis of Hypermobile Ehlers-Danlos Syndrome (hEDS). My mother was a registered nurse and she knew the month I was born that something wasn’t right. It wasn’t normal for an infant on 100% breast milk to be severely chronically constipated, for both ankles to be folded over to the left in a very unnatural position, and to be able to bend my tiny fingers and toes in unbelievable ways. Doctors didn’t have any answers. 

As a toddler, I would refuse to continue walking. Doctors said I was throwing a temper tantrum but my mother knew I was in pain. She continued to seek answers from doctor after doctor throughout my childhood. I was extremely flexible so I excelled in all types of dance when the pain wasn’t too bad. Still undiagnosed, orthopaedic surgeons wanted to fuse my over-flexible ankles at age 12, but thank goodness they decided against it after a third opinion. At age 13 and 14 I had ‘snapping hip syndrome’ in both hips and had surgeries to correct them. I also bruised easily, often felt like I couldn’t hold up my own neck/head, had chronic severe allergy and gastrointestinal issues, and became faint with a racing heart when I stood up – but again, doctors didn’t put it all together.

At age 14, pain also started affecting my upper body. This led to a misdiagnosis of Juvenile Rheumatoid Arthritis, an incorrect label that stuck with me for 30 years, even though I never showed some of the hallmark symptoms of Rheumatoid Arthritis, such as severe joint inflammation and joint damage. I missed an entire year of high school due to my pain levels and my inability to sit in a classroom all day. I learnt to manage my pain and fatigue better as an adult and managed to earn my Bachelors and Masters degrees, worked full time, and had three children.

Skipping ahead to age 33, I was diagnosed with a heart arrythmia called Premature Atrial Contractions and Tachycardia after I was hospitalised due to blacking out while driving in morning rush-hour highway traffic. Again, the doctors didn’t put the pieces together. There were many times where I could tell from the doctors’ words and body language that they thought I was being overly dramatic, or that the symptoms were in my head. I was grateful when things like the arrythmia could be proven by tests.

At age 41 I got remarried and moved from Alabama in the United States to Whakatane, New Zealand. Additional symptoms started to appear, including Raynaud’s Syndrome, nausea, headaches and diarrhoea. I saw a rheumatologist in New Zealand regularly but when the painful knuckles on my left hand turned black (which we now know was severe bruising), and an MRI showed no joint inflammation or erosions, the rheumatologist sent me for a second opinion in Rotorua. I will be forever grateful to Dr John Petrie for diagnosing me with Ehlers-Danlos Syndrome. As soon as I got home and Googled it, I couldn’t believe that the answer we had been looking for over so many years was right there in one list. I ticked all the boxes. Finally, I ‘fit’ a condition that explained ALL of my seemingly-unrelated symptoms. I felt not only relief at finding answers, but also anger that it took so long to get them, and grief about what it might hold for the future.

A visit to Dr Fraser Burling in Auckland confirmed the diagnosis, and he got me started on better management of many of my symptoms. Sclerosant prolotherapy has helped many of my joints stay in place better, and has reduced my pain enough, that during a 10th anniversary trip to Canada last year, I was able to do mountain walks as long as 8km! 

Because my diagnosis took so long, I am passionate about helping others find the answers they need. I run an EDS support group in the Bay of Plenty, and I’m the Treasurer of Ehlers-Danlos Society NZ. My hope is that in the future the awareness of Ehlers-Danlos Syndromes will be so widespread that no one will have to wait 44 years for a diagnosis like I did. 

Story published 19 March 2019.