Sawyer Horcher of Homewood is a bright, creative 7-year-old. She loves to paint. She loves to dance. She loves to think up community service ideas she hopes her family can do.
There is no visible sign that she suffers from a rare genetic condition called Ehlers-Danlos Syndrome (EDS), type 3, along with several other rare conditions.
Sawyer’s mother, Rachel Horcher, who also has EDS, started a Facebook page a year or so ago, Sawyer Hannah’s Life with Ehlers-Danlos, to increase awareness by sharing what it’s like to live with the condition.
It means she endures chronic pain, joint dislocations and skin sensitivity. It means getting a full night sleep is as rare for mother and daughter as the disease they share. It means otherwise simple tasks, like finding a shirt Sawyer can wear to school in comfort, is a big challenge.
The Mayo Clinic website describes EDS as a group of conditions that affect connective tissues — in skin, joints and blood vessel walls — that provide strength and elasticity to the underlying structures of the body.
“People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin,” according to the Mayo webpage.
Horcher said one of the first challenges the family faced was pinning down just what caused Sawyer’s symptoms, which began to appear when she was about 2. Unlike more common diseases, which often are easier to diagnose and treat, Sawyer’s condition was a mystery for some time.
Sawyer began rubbing her elbow frequently. As a massage therapist, Horcher said she recognized it as a sign of pain.
When Sawyer was 3, she started having leg pain.
“It was bad enough that she couldn’t walk,” Horcher said. Her doctor couldn’t find a cause.
Eventually several friends and her massage mentor, the late Bob King, helped find the right diagnosis after Horcher told them about the hypermobility in Sawyer’s joints.
“All kids are mobile, but she was too mobile,” she said.
She took Sawyer to a rheumatologist, who diagnosed mother and daughter with benign joint hypermobility but not with EDS. Six months later, Horcher got Sawyer in to see a specialist who confirmed EDS.
There currently is no known cure for EDS, but the symptoms can be treated. In Sawyer’s case, she not only inherited the condition from her mother, she inherited a way to cope with it: breathing.
Even before becoming a massage therapist, Horcher said she was good at using controlled breathing to help manage pain, and Sawyer has shown the same ability.
“I have never allowed pain to slow me down, which is not always a good thing, but breathing is key,” she said. “So giving her that tool to use is big. Breathing allows her to control her nervous system during the day. She can’t control her body per se but she can control how she responds to it, most of the time.”
Dealing with the symptoms of EDS is the main challenge the family faces, but there are also social complications caused by the relative invisibility of the condition.
“The other kids can’t see any of Sawyer’s struggles and that is good and bad,” Horcher said. “They don’t know why she wears the same clothes. It must be odd to them. They don’t know that even though she is smiling, when she comes home she tells me that her hips went out of joint a few times and her neck cracked so bad it burned throughout her head and she got dizzy, that her feet feel like she is walking on needles, that she feels like there are walls around her legs and the walls sometimes are closing in.”
Horcher said Sawyer knows the nature of her condition.
“She knows other diseases can be cured, but she will never get better,” she said.
Sawyer is also aware of the difficulty others have recognizing her condition.
A few years ago she met a boy who had a visible disability. Later, she told her mother that she wished she could be like him “so people could see my ouchies. Now, no one can tell. Everyone knows he isn’t well and doesn’t question him.”
She said Sawyer is often reluctant to ask for help or to express her pain.
“If she thinks she is being a burden she won’t ask for help,” Horcher said. “She will smile and continue on. I am not sure many days how she makes it through but she does without anyone knowing.”
That’s one reason for the Facebook page. It’s an opportunity to raise awareness about Sawyer’s situation and to give a vivid glimpse at the life of people with rare but invisible conditions.
“We don’t want people to only see EDS” when they look at her, “but I do think it’s a good lesson in looking at people instead of through them.”
The page provides an opportunity to show the family’s other side, too: all the adventures they have and activities they participate in. Horcher said Sawyer and her 5-year-old brother, Hunter, are discussing the possibility of creating a nonprofit organization. They haven’t decided on a mission yet. They have a whole list of ideas. They just know they want to help people.
The page is also an opportunity to push for more research into EDS and other rare conditions.
“I have always had pain for as long as I remember,” Horcher said. “It’s one of the reasons I became a massage therapist, because no one seemed to be able to make me feel better, and I wanted to help other people in pain.”
So the family continues to do research, learn coping skills and hope that better treatments are developed and, ultimately, that an answer can be found to the mystery of why EDS occurs and how it can be cured.
“What would you do if countless doctors told you that your 7-year-old child would be in pain the rest of her life?” she said. “Would you accept it? Could you rest? I can’t. I won’t.”
Sawyer will be featured on a WGN television program at 9 a.m. Tuesday, Feb. 16.