CALLAWAY - - Until a few months ago, Callaway sophomore Bailey Mach was an active high school athlete. She played basketball, and last spring ran the mile for her track team.
In February, Bailey began experiencing weakness in her legs and pain in her feet. She had suffered a concussion in a basketball game in January and doctors thought her symptoms were related to the migraine she endured for several days after her concussion.
Bailey's legs continued to get weaker and she started "high-stepping" and claiming her legs had a "mind of their own". She couldn't walk more than 10 steps without having to sit down or use a cane.
Bailey's symptoms would worsen during the evening, and she experienced excruciating pain in her back and legs. She spent two weeks seeing neurologists at Omaha Children's Hospital, but the doctors couldn't pinpoint a diagnosis and they sent her home with physical therapy and Tylenol.
Upon returning home to Callaway, Bailey's condition worsened. Her knees and feet started to turn in and she would frequently trip on them. Bailey had gotten so weak she was using a wheelchair just to get from the car to a store. Her mother, Angela Meyer, knew something was not right and demanded a second opinion.
With the help of the Callaway Clinic’s Dr. Loper and Dr. Keown of New West Sports Medicine, Bailey was scheduled to be seen by neurologists at Children’s Hospital in Colorado. She and her family spent the entire month of March in Colorado, having in-patient and out-patient testing done.
“I had sent a video of Bailey’s abnormal gait to her neurologist,” says mom, Angela Meyer. “He reviewed her tests and the video and then showed Bailey videos of other people walking the same way as she did. Bailey was ecstatic that she wasn’t alone!”
Her neurologist, Dr. Bradford Miller, diagnosed Bailey with a rare genetic disorder called Segawa Disease, also known as Dopamine Responsive Dystonia (DRD).
“I don’t care if I have a rare disorder, at least I have a diagnosis!” says a relieved Bailey.
Armed with a diagnosis, Bailey can now turn her attention to regaining her strength and returning to participate in sports and other activities. While there is no cure for DRD, the symptoms can be controlled by medication. Once the dosage is adjusted properly Bailey will be able to walk like everyone else.
Bailey says she is in the process of learning to take rest breaks when her legs feel weak, and says “ice packs are my friend.”
And they are not the only friends Bailey and her family have discovered they have. During their month-long stay in Colorado, the community of Callaway, and their family and friends rallied around the family by sending cards and helping out financially.
Diane Ready helped by having a t-shirt fundraiser and by starting a Facebook page entitled "Help my little friend Bailey". She is also organizing a fundraiser on Mothers Day at area churches by selling Mothers corsages to help the family with their return trips to Colorado and other expenses.
Michelle Steinike, of Gothenburg, also helped the family out by hosting a fundraiser online through her ‘Thirty-One’ business.
“We are grateful for the support we received for Bailey during this journey,” says Meyer. “I am a single mom and having all of this time off work has put a great burden on everyday finances - but Bailey’s health comes first. We couldn’t have done it without the support of everyone, including Callaway High School staff.”
More on Segawa Syndrome
April 30, has been designated as Dystonia Advocacy Day at Capital Hill in Washington, D.C.
The prevalence of Segawa Syndrome is unknown, and only a small number of cases have been diagnosed globally. Cases have been reported in Japan and in the Netherlands.
Segawa syndrome is a rare genetic disorder characterized by an uncoordinated or clumsy manner of walking (abnormal gait) and dystonia.
Dystonia is a general term for a group of muscle disorders generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). Dystonia in Segawa syndrome usually affects the legs, but some children may first develop dystonia in the arms. ln some cases, usually in adolescents and adults, the symptoms of Segawa syndrome may become noticeably worse or more pronounced in the afternoon and evening than in the morning (marked diurnal fluctuation). lntelligence is not affected.
Children with Segawa syndrome usually show a dramatic and sustained improvement when treated with levodopa. Dopamine is deficient in children with Segawa syndrome. The disorder is caused by mutations of the GCH-I" gene. (As defined by NORD-National Organization for Rare Disorders)