By Mary Thomsen
Courtesy of the Valders Journal
The full calendar in the Schmitz kitchen does not quite paint the picture of a typical month for an active family, but every appointment helps the family get on with life.

“My calendar, it probably looks like everyone else’s, only it’s not for sports,” Carol Schmitz said, displaying her schedule of medical and therapy appointments to help her children and herself battle a disabling disorder.
During a recent three-day stretch, for example, the family had five medical appointments, typically trips to Milwaukee and Green Bay. And then the fight against this unseen enemy took the family to Texas.
Carol and her three children face a rare, debilitating medical condition that baffles many doctors. She and her husband, Randy, and the kids live west of Clarks Mills. They also have family living in Chilton and the Marytown/St. Joe areas.

Struggle is real
The struggle is real for Carol and their children, Gabrielle, 20, Isaiah, 15, and Luke, 14 as they live with Ehlers-Danlos Syndrome. Randy, although healthy, is deeply affected as he watches his family go through intense pain and disruption of daily life.
When Carol asked her kids how long it had been since they have had a pain-free day, they let out an exasperated laugh. “Maybe a year?” Gabrielle guessed.
“It’s a long road,” Randy said in response. “It’s one day at a time.”
The Schmitz family has the hypermobile type of EDS, which disrupts connective tissue—the body’s “glue”—so the disorder can hit many body systems, he said.
Gabrielle and Isaiah, in particular, suffer intense pain and fatigue daily, and their joints easily dislocate, causing inordinate levels of pain. Just turning the wrong way can pull an ankle, knee or even ribs out of place, and each of the affected family members are unusually flexible, a hallmark of the syndrome.
In addition, all three kids and Carol battle digestive issues. Isaiah has been diagnosed as severely malnourished because he cannot absorb enough nutrients, and Luke has severe stomachaches and abdominal migraines, among a host of symptoms for all four.

Doctors do not know how to treat
Doctors find the joint, muscle and nerve pain in the condition difficult to treat. Sitting through an hour of school can put Isaiah’s back in such spasms that he is up all night, and Gabrielle cannot work for more than a few hours without being debilitated for days. Physical education class was ruled out for Luke after his recent diagnosis.
Isaiah missed his freshman year of high school and all the children have had to modify their education with online and home school options. Carol said she finds it is best when they can take their minds off the pain, a main reason she has kept the teaching job she loves despite the difficulty of her own EDS.
She said symptoms can improve and worsen and are affected by weather and levels of activity. When Gabrielle has an appointment, her parents must be available to drive in case she cannot because of a dislocation or other symptom. Both Carol and Randy said they are grateful for employers who allow them flexible schedules.
Conventional medication and therapies barely touch the pain and other symptoms, so the family decided to head to Texas for a two-week program of biofeedback training for Carol and the kids. The goal is to train their brains to control aspects of the autonomic nervous system, such as heart rate, peripheral blood flow regulation and muscle tension, and initial results were positive.

Therapy helps
The therapy has helped others reduce symptoms like migraines, joint pain, fatigue and Postural Orthostatic Tachycardia Syndrome, which causes low blood pressure, rapid heart rate, fainting and other debilitating effects, all of which affect the Schmitz family to some degree.
Carol, a teacher at St. Mary/St. Michael School in Clarks Mills, said the pieces of a lifelong medical puzzle came together for her in about 2008, when one of her sisters suspected EDS after coming across mention of it while taking college courses in genetics. Several siblings had experienced pain, fatigue, digestive problems and other symptoms.
Children of EDS patients have a 50/50 chance of developing the syndrome, and all three Schmitz children have been diagnosed, the most recent, Luke, in late spring.
Besides the pain and difficulty of managing the symptoms, the family has been frustrated by the lack of knowledge many medical professionals have about EDS. Each person sees specialists to treat each body system, such as gastroenterologists, neurologists, cardiologists, rheumatologists, geneticists, optometrists and psychologists.

Protein does not form correctly
Collagen, the main protein in connective tissue, does not form correctly in EDS patients, causing pain, easily dislocated joints and other symptoms.
“That’s the glue that covers the muscles, nerves and organs,” Randy said. “It’s just throughout the entire body.”
Getting a proper diagnosis has been a battle because of the rarity of the disorder.
“Years ago, people with this condition were called hypochondriacs—anxiety issues. We were just categorized,” Carol said.
Leaning over with a gentle smirk, Randy injected some humor into the discussion, “Or just weird,” he joked, drawing a smile from his wife.
Carol said every doctor tells her to explain EDS to them because she understands it best. The disorder has no clear diagnostic tests, and geneticists can diagnose, but offer little relief.
“It’s so hard because I just want answers. ‘Can you tell me what to do?’, she said. “There’s no set path to follow.”
Carol believes her symptoms—although she did not know what they meant—worsened around her teen years, something she has seen in her own children, especially when they tried sports like soccer. The kids gradually have given up favorite sports and other activities.
“We don’t take anything for granted anymore,” Carol said, noting that at times her kids have had to use wheelchairs to get to medical appointments, and the “invisible” illness draws stares and comments sometimes because the kids cannot manage things like heavy doors.
“They hurt all the time,” she said. “People don’t see it and understand.”
Adaptive devices—such as braces, wheelchairs and canes—are often necessary for all four. Vacations and outings are difficult because none of them can walk far or stand for long.
Isaiah had been an active child and then started feeling too tired to play, which triggered his parents’ concern. Gabrielle suffered headaches, but her fatigue did not seem as pronounced at first because of her tendency to choose less physical activities such as reading, Carol said.
Gabrielle was at first diagnosed with fibromyalgia and depression, but treatment did not help. She eventually had stomach pain so severe she ended up in the emergency room, and all four have frequent digestive pain and nausea.
The youngest, Luke, has suffered asthma—the family now knows the airway depends on collagen—and stomach issues, but had not shown much of the other symptoms so his path to diagnosis was different. Carol had not connected her own stomach issues with EDS until a doctor asked Luke about his digestive symptoms.
“That just explained my whole childhood,” she said. “I was sick all the time.”
While physical therapy can help manage EDS, it must be a gentle, adaptive therapy, Randy noted. Some therapists have been willing to contact experts in Cincinnati to get advice, and others are not comfortable taking that step, he said.
Most of the family’s treatment now happens at either Children’s Hospital of Wisconsin, for the boys, or Froedtert Hospital in the Milwaukee area, with some in Green Bay.

“Considering how long it took for us to figure out what was going on, I really feel for other families who have no idea,” Randy said.
The kids all know if they want to do something, like attend a birthday party, they will likely pay the next day with pain and fatigue, so difficult choices must be made, Carol said.
Randy said his kids are “troopers” who have lost a lot of what they once could do.
“We want people to know just because you don’t see somebody in a cast or something doesn’t mean they’re not in a lot of pain,” he said. “Even if they seem good, they may be suffering inside.”
As parents, Carol said she and Randy have to “let them be a kid sometimes,” knowing that pain will likely follow, and they encourage them to have fun on their good days.
 “You just try to appreciate the little things,” Carol said. “We don’t complain about the little things anymore.”

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