It’s often written off as anxiety, particularly in girls. But when the symptoms are thoughtfully pieced together, a puzzling and widely unrecognized disorder is revealed.
A quick check of her blood pressure is just one step in Maddie Schubert’s extensive daily routine.
"This is on after multiple salt pills this morning and meds to raise my blood pressure, so this is the highest it’s ever going to get," she said.
There are exercises, and pills — lots of them.
"That’s my traditional medicine every night I take this one for chronic pain, this one for joint inflammation. Nobody looked at the bigger picture of all these things going on," she said.
A childhood picture offered one of the earliest clues that Maddie had a health problem.
“If you look back at pictures of me when I was three, we never noticed but my legs were turned around. When you are walking, your joints just slip out. I dislocated my jaw and my knees, and they were always attributed to, ‘Oh, it’s growing pains,'" she said.
From head to toe, Maddie’s joints are hypermobile. It’s a classic sign of a little-known condition called Ehlers-Danlos Syndromes or EDS – a group of connective tissue disorders. But on top of that, she felt dizzy when standing up – the result of plunging blood pressure.
“For me that causes a lot of dizziness, and sometimes I faint and blackout," she said.
It’s called POTS -- or postural orthostatic tachycardia syndrome. It’s a type of dysautonomia. Think of it as a malfunction in the system that controls functions that should be on auto pilot, like heart rate, blood pressure and digestion.
“I had neurosurgeons telling me it’s all in your head. I’ve had so many symptoms my whole life, and most people never believed me. Doctors didn’t believe me, teachers didn’t believe me at school, and the only people who fought for a diagnosis were my parents," she said.
It took Maddie Schubert and her parents seven years to get a diagnosis that would explain the mysterious collection of symptoms that, at times, left her debilitated and in pain. It’s a story shared by countless others – their symptoms written off as emotional.
“Oh well, it’s a panic attack, therefore it’s emotional. And I think we’ve just always explained it away, ‘That’s just an adolescent girl,’ without understanding there’s a physiology behind that," said clinical geneticist Dr. Brad Tinkle.
Tinkle didn’t plan on being an EDS and dysautonomia expert. But it’s a good thing he is – there’s a shortage of medical professionals who understand the disorders.
"Where I just came from, Chicago, my wait list was more than four years," he said.
"He’s so comprehensive. The first doctor where I sat in the room and he knew more than us, and it wasn’t information you can find on Google. It was from his experience and seeing so many patients," Maddie said.
Now, at Peyton Manning Children’s Hospital in Indianapolis, Tinkle hopes awareness will help patients get answers they need.
"Patients shouldn’t give up. Sometimes it takes finding that special physician who is willing to listen and work with people," he said.
"I can’t imagine people who are in worse situations what they have to go through to get a diagnosis because it was still so rough for us and so emotionally taxing and physically taxing and we had everything at our disposal," Maddie said.
Maddie is sharing her story with the hope she’ll help educate doctors and patients searching for answers. To learn more, check out the following links:
DYSAUTONOMIA SUPPORT NETWORK
DR BRAD TINKLE