Margaret Shepard (@margieshepard) published a blog post · December 16th, 2012
Jubilant First Steps
Greg and Suzanne Roeder were in tears when their daughter took her first steps. It's natural to get choked up when a child demonstrates her vertical independence. But the Roeders were especially emotional because Danielle was seven years old when she made those monumental strides.
Danielle once needed to use a wheelchair, but was freed from its confines after her diagnosis and treatment for the condition L-dopa responsive dystonia at Mayo Clinic in Minnesota.
"When Danielle was six months old, we realized something was wrong," says Greg. "She started out with a little foot tic or tremor. Eventually she couldn't hold her own head up. Her mother and I would have to do everything for her, including holding her bottle. As Danielle's physical condition eroded, the Roeders saw 20 to 30 doctors over the years and talked with hundreds of health care providers about their daughter. "No one could tell us what was really wrong with her," says Greg.
Through a series of misdiagnoses, the Roeders once thought Danielle had spinal muscular atrophy — a childhood version of Lou Gehrig's disease — or cerebral palsy. "She had no muscle control and by the end of the day was so weak she could only whisper," recalls Greg. "You could see the sparkle and fire in her eyes, but she was trapped in this frail body."
Aside from not being able to walk, nearly anything that involved muscle control presented a challenge for Danielle. It was difficult for her to swallow or go to the bathroom. She would become so weak throughout the day that her little voice was barely a whisper when she said good-night to her parents. "For all intents and purposes, she was a quadriplegic that could barely communicate," says Greg. "It was absolutely horrible."
"I don't remember much about being sick," says Danielle. "But I remember a lot about the place I went to get better! Before that, I was so weak by the end of the day, that my parents would tell me to 'kiss' for yes and stick out my tongue for no. And I remember that the control on my wheelchair tasted like hand sanitizer."
Uncovering the culprit
After six years and what seemed like thousands of doctor visits, the Roeders left their home in Springfield, Mo., and headed to Rochester to see a specialist at Mayo Clinic.
"We could instantly tell when we arrived at Mayo that we were somewhere special," recalls Greg. "Everyone treated us like we were the only thing on their minds that day."
"The first test we performed was an EMG to rule out a progressive muscle disorder, which had been her diagnosis for years," says Duygu Selcen, M.D., a pediatric neurologist at Mayo Clinic.
Dr. Selcen and Danielle's family made an immediate connection. "When Dr. Selcen came into the room, we were amazed at how much she already knew about Danielle," says Greg. "She spent more than two hours with us — she listened with real intensity."
"Listening to parents is so important when you have a child with this type of history who can't talk or retrace their condition from birth," remarks Dr. Selcen, who ordered a neurotransmitter study to test chemical levels in the brain that regulate movement. It usually takes several weeks to compile and evaluate the test results.
"While we were talking with Dr. Selcen and she was examining Danielle, I had the feeling she knew something," recalls Greg. "She was asking us questions that no one else had asked."
"The following week, Dr. Selcen personally called us to discuss the results," remembers Greg. In all the health care providers the Roeders had seen, Greg doesn't recall ever being called personally by the doctor. And Dr. Selcen had outstanding news to deliver. "She told me they had determined what was wrong with Danielle and she believed it was treatable," says Greg.
Danielle's condition is very rare. Only one in 2 million children are affected by L-dopa responsive dystonia, an elusive disorder that mimics the symptoms of Parkinson's disease. "And it's extremely rare for it to present at six months of age," says Dr. Selcen.
Dr. Selcen ordered subsequent genetic testing, which showed a mutation confirming the diagnosis. "I was anxious to treat Danielle and see if this little girl could have a normal life," she says.
Lessons from Danielle
Danielle was prescribed levodopa. "The very first day that Danielle took the medication we saw a change after only two hours," says Greg. "It was miraculous. The day before she was a quadriplegic and the next day she was eating like a farmhand and talked all day long."
"It's a very small dose of a drug similar to ones used for Parkinson's disease," says Dr. Selcen. "Danielle will need to take this medication for life, but it has few side effects. She may have to deal with some involuntary movements, but that's the most bothersome part."
Greg ripped the wheelchair ramp off their home with great joy. Danielle's life has left her father with a myriad of ironies in his life. "This has been the most horrible and wonderful thing that has ever happened to me," says Greg. "Through Danielle, I have learned patience and grace beyond measure. As a police officer in Springfield, Greg has seen some of the worst human behavior imaginable. "Through Danielle, I've seen some of the most gracious behavior from people. From his community and church family to the Children's Miracle Network and all the folks at Mayo Clinic, Danielle doesn't just belong to me and her mother...she belongs to everyone who has been touched by her condition," he says.
"There isn't a way to express my gratitude to all the people who have stepped up to help us," says Greg. "This is a debt that can't be repaid, but God will figure out a way to get the message out, whatever it needs to be."
"Dr. Selcen is my hero," says Danielle. "She's the reason I can throw away my wheelchair and ride a bike with my friends."
"No, no," says Dr. Selcen. "Danielle is my hero. She and other children who need help are the reasons I'm here."