It’s not often that parents breathe a sigh of relief when their child is diagnosed with a chronic, potentially debilitating condition. But that sense of peace is just what Paula and Scott Hurd felt when they were told that their son, Calvin, had a rare movement disorder. “We were so happy to finally understand what was happening,” says Paula.
The search for answers had begun several years earlier, when Calvin started limping. At first, his family thought he had simply tripped over something and injured himself. But when he didn’t improve, they took him to the doctor. A series of appointments with specialists culminated in a surprising diagnosis: cerebral palsy. Although the little boy — then in kindergarten — didn’t have any other symptoms of the condition, “there seemed to be no other explanation,” says Paula. “We accepted it and focused on getting Calvin physical therapy.”
But physical therapy couldn’t help his energy levels, which dipped in the late afternoon. By second grade, Calvin’s teachers reported that he was having balance difficulties at school. Where he had once run out of steam around 4 p.m., he was now exhausted by 11 a.m. When he and his twin sister got off the school bus at the end of the day, their parents had to help Calvin up the long driveway to their home in Central Massachusetts. “He was so weak and tired that he didn’t want to do anything anymore,” recalls Paula. “I saw him slipping into a depression and it was terrifying.”
New diagnosis, new hope
The Hurds decided it was time to get a second opinion and reached out to the Cerebral Palsy Center at Boston Children’s Hospital, which has a particular emphasis on making the right diagnosis. The first physician they saw was Dr. Benjamin Shore. After examining Calvin and talking with him, he delivered shocking news: Calvin likely didn’t have cerebral palsy at all. Testing by Dr. David Coulter confirmed this suspicion — and helped form a whole new diagnosis: dopa-reponsive dystonia.
This disorder causes involuntary muscle contractions, gait abnormalities and other difficulties with movement and balance, typically starting during childhood. Symptoms tend to get worse over the course of the day. The condition is commonly misdiagnosed as cerebral palsy. “Everything sounded exactly like Calvin,” says Paula. “We weren’t upset about the misdiagnosis. We were just glad to have answers.”
“Someone finally understands”
Paula and Scott weren’t the only ones who felt relieved. That night, Paula gently explained the new developments to Calvin, who began to cry. As she opened her arms to hug him, she asked what was bothering him. “Nothing,” he answered. “I’m just so happy that someone finally understands. Someone knows how to help me.”
That help came in the form of a daily dose of levodopa, a synthetic version of the brain chemical dopamine. Calvin has responded very well to the medication — a change Paula calls huge. He’s back to racing his sister up the driveway from the school bus and learning to waterski, rollerblade and golf. The teachers who worried about his balance recently watched with tears in their eyes as he participated in a tug-of-war and other activities with his classmates on Field Day. “He’s doing things we hadn’t thought were possible,” says Paula.
Living with dystonia
As he enters third grade, Calvin is still a little cautious about things that used to make him tired. But when he overcomes that and does them, his face lights up with joy. Physical therapy is helping him correct some changes to his gait that his parents believe developed as overcompensation for the dystonia.
This active 8-year-old returns to Boston Children’s every six months for follow-up visits, but his care team views his experience as a true success story. At a recent appointment, Calvin’s doctors watched with pride as he walked up and down the hallway unassisted. “I cried for days after I saw that,” says Paula. “They have given my son a true gift.”
Learn about the Cerebral Palsy Center.