A Whanganui teenager feels like her life is back on track after years of being told her pain was all in her head or "just growing pains".
Jaz Dangen-Forster, 15, has been diagnosed with Ehlers-Danlos Syndrome (EDS), a rare genetic connective tissue disorder where abnormal collagen causes joints and connective tissue to become loose. Jaz has had years of extreme pain and fatigue, and multiple dislocations of her joints. She has also been diagnosed with a heart condition, postural orthostatic tachycardia syndrome (POTS), which causes an abnormal heart rate and is associated with EDS.
The diagnoses have come as a relief to Jaz and her parents Kirsty and John Forster who hope that sharing their story may inspire other people to keep persevering to get answers about medical concerns.
"Since she was about 2 years old, Jaz has had aching joints and been extremely fatigued," Kirsty said.
"We have seen umpteen doctors and all they kept saying is 'she has growing pains'. We hoped it would eventually go away but it didn't. We saw specialists and the third paediatrician we saw said I needed to sort myself out and maybe if it wasn't for me my child wouldn't be experiencing these symptoms.
"They kept giving her ibuprofen and paracetamol. Why, if you think she's not in pain? Why would you keep prescribing those medications?"
Jaz had been having subluxations [a partial dislocation of joints] and the Forsters say an emergency department doctor told them it was normal for a child of her age.
John says for years Jaz complained continuously of her body aching and hurting.
"She would wake us up in the night, crying with pain," John said.
"She was tested for rheumatoid arthritis but it came back with nothing. Last year we were in Te Aroha fundraising for a charity we are involved in when we had a breakthrough."
Kirsty got talking to a nurse who works at Waikato Hospital and told her about Jaz.
"She asked if I had ever heard of some conditions and explained everything and it was Jaz to a tee," Kirsty said.
"The nurse said there was only one doctor in all of New Zealand who specialised in this condition [EDS]."
After more tests and visits to other doctors did not come up with any answers, the family asked for a referral to Dr Fraser Burling, an Auckland rheumatologist with a special interest in EDS.
"The moment we saw the doctor in Auckland he put Jaz on heart medication which has slowed her heart down," Kirsty said.
"She had been having massive headaches and wanted to vomit every day. Other doctors had said she was anxious and maybe she just didn't want to go to school. But Jaz loves school."
In July last year, Burling confirmed Jaz has EDS.
Jaz has had dislocations of her jaw, shoulder, hips, wrist, fingers, toes, ankle and now one vertebrae in her back is coming away. She often has blurry vision and has myopia which is a symptom of EDS.
Burling offers prolotherapy [proliferation therapy], an injection-based treatment used in chronic musculoskeletal conditions that can improve symptoms for EDS patients. It has reduced Jaz's joint dislocations.
"Her jaw was falling out of place all the time," John said.
"She's had four injections since July and it's under control now. She's had two injections in her kneecap which has now stabilised. In the past, we'd be at the emergency department monthly, or sometimes weekly, trying to get the patella back in place.
"The prognosis if we hadn't done anything is that she would be full-time in a wheelchair by 20."
At her first appointment with Burling, he asked if Jaz was having a baby because her pelvic bones were in the position of a pregnant woman. After establishing that Jaz was not pregnant, he moved the pelvic bones to the correct position. When they left the clinic, Jaz ran down the road, something she had not been able to do for years.
There are varying types of EDS and Jaz has the type known as "classical".
"Fortunately it's not the vascular type where life expectancy is around 45 years," Kirsty said.
"EDS is a genetic condition. My mum has it and she's only been diagnosed at the age of 60. For years she has felt pain and felt unwell. She doesn't get dislocations but her joints get stuck. I've never had any symptoms or problems but the doctor says I have it.
"Mum was put on anti-depressants but she wasn't depressed, just in pain. She's a different person since her diagnosis - more relaxed."
Kirsty's mother, Lana Williams, said having a diagnosis of EDS had made a huge change to her.
"I feel sane since my diagnosis. Before that I felt like I was going mad or was a hypochondriac. I've been in pain all my life. I get very hot and cold. I've been sleep deprived for years because I'm in pain at night.
"I feel lucky we don't have the vascular sort of EDS."
However, the regular appointments with Burling for treatment are a big commitment for the family.
Jaz has appointments with Burling every two months and is booked through until next year. She is also on an exercise programme to help her stay reasonably active.
"I'm doing 40 minutes' physio five days a week," Jaz said.
"I'm going for a 15-minute bike ride and I'm going to be starting swimming."
However, the sport-loving teen can no longer play hockey or other sports because of the risk of injury. Sitting for long periods of time is also out of the question.
Kirsty and John said they appreciated the support Jaz had received at Whanganui Girls' College where staff and students had been "absolutely fantastic".
"They work in with Jaz with her condition," John said.
"If she's needed to catch up on things, someone has been there to help her."
Jaz says the diagnosis and treatment is already making a big difference.
"I'm not stressed," she said.
"I'm more calm and I know what's actually wrong. Now when I tell my parents what's happening they say 'we know what to do'. I feel like my life is back on track now."
The Forsters say there are about eight people with diagnosed EDS in the wider Whanganui region but there may be more people who are not diagnosed.
"We don't want people to give up because a doctor has said it's growing pains," Kirsty said.
"It might be growing pains but not in all cases. Obviously we can't give a diagnosis but we want people to know we are here to help them if they want to talk or find out more about Jaz's treatment."
"Keep persevering," John said.
"Jaz smiles now but for years it was difficult to get her to smile. Now she's a happy person."
Anyone who would like to talk to the Forsters can contact them on 027 397 0444 or email email@example.com
The New Zealand Organisation for Rare Disorders [NZORD], of which EDS is one, lists the main challenges for patients as:
-Getting a diagnosis, being misdiagnosed, being told it's all in their head, being disbelieved, and getting doctors to listen.
- Doctors and specialists not having the knowledge to treat EDS.
- Pain and fatigue and a lack of understanding in the wider community.