When Jack’s walking became odd at age 5, doctors chalked it up to a mild form of cerebral palsy that can occur in children born too soon. “We were okay with it,” his mother said, because mild cerebral palsy would not “affect the length of his life or his enjoyment of it.”
Jack’s parents were also reassured by his ability to catch up; with help, he mastered various skills: jumping, walking and writing in cursive.
But by age 10, when his ability to walk badly deteriorated, a reevaluation by his doctors resulted in a very different diagnosis and prognosis.
“We had all those years of feeling that he was a normal, healthy kid with some challenges,” his mother recalled. Discovering what was really wrong has been a heavy blow, magnified by Jack’s perceptive awareness of its implications.
Ruth DeWitt, who lives with her family in Howell, Mich., outside Ann Arbor, was in the hospital undergoing a test for preeclampsia, or pregnancy-induced hypertension, when she began hemorrhaging, a sign of placental abruption. The life-threatening condition occurs when the placenta prematurely detaches from a woman’s uterus. Rushed into surgery, Jack was born weighing 3 pounds, 9 ounces, and was transferred to the neonatal intensive care unit at the University of Michigan Medical Center. Small but strong, he needed oxygen but no ventilator, and he came home 15 days later.
“He seemed to be a newborn forever,” his mother recalled. After five months, when he had not rolled over and was found to have the motor skills of a 4-week-old baby, he was enrolled in an infant development program.
For the next three years, his diagnosis varied: “early childhood developmental delay” gave way to “developmental coordination disorder.” The good news was that his cognitive abilities were not affected, and he made significant progress with his motor skills. His parents were thrilled when, shortly before his third birthday, he learned how to jump.
By age 4, Jack was discharged from an early intervention program. “He did really well in kindergarten,” his mother recalled, and his developmental problems seemed to recede.
But a year later, Jack began walking on his toes in karate class. Toe-walking can be a sign of cerebral palsy or autism, or simply a behavior that children outgrow.
Jack was referred to Liza Green at the University of Michigan. A physiatrist, or doctor who specializes in rehabilitation medicine, Green believed that Jack’s toe-walking might be caused by overly tight calf muscles; she recommended Botox shots and leg braces, both of which he received.
“He began walking much better,” Green recalled.
But over the next two years, concerns about his gait did not dissipate. He seemed to have trouble keeping his balance, and on the baseball field, his mother noticed, Jack’s running seemed jerky, not fluid like that of the other kids.
Physical therapists thought his premature birth might be responsible and suspected he might have sensory integration disorder, a neurological problem that results from the brain’s inability to process information provided by the senses. “They said it didn’t seem as if he knew where his body was in space,” DeWitt recalled.
By age 7, his customary grit and determination didn’t seem to be propelling him forward as they had previously. “At the time, we were doing everything we could,” but it didn’t seem to be making much of a difference, DeWitt said.
During a visit to Green, DeWitt asked the doctor if he might have cerebral palsy.
Green told her she thought that it was likely, but that Jack’s case was mild. “With his trouble walking, and his early birth, mild CP seemed to make sense,” the doctor recalled.
Saddened but not alarmed — the couple knew someone with CP — Ruth DeWitt said they “felt he would certainly enjoy most activities and sports and live a very long and full life.”
But as Jack’s ninth birthday approached, worrisome new symptoms emerged. He developed severe headaches, some with migraine features, and often seemed unusually fatigued. A simple walk around the neighborhood in the snow would leave him wiped out. He had also developed a slight curvature of the spine, known as scoliosis.
The headaches were particularly alarming: Jack’s paternal grandfather had died of a malignant brain tumor, and his parents wondered whether his headaches might signal brain cancer. He saw a pediatric neurologist, who ordered an MRI scan that found nothing amiss.
But the neurologist did say something that shocked DeWitt: Noticing how unsteady Jack was, she recommended a walker and, for longer distances, a wheelchair. DeWitt remembers thinking “My son walked in here — how could he need these?”
By the summer of 2009, Green, the physiatrist, began to reevaluate her CP diagnosis after seeing Jack’s worsening ataxia, a lack of muscle coordination, when he walked. “I thought, ‘Hmmm, should we do anything?’ ” she recalled.
His gait problems seemed progressive — and cerebral palsy is not. Because Jack was already seeing a pediatric neurologist and because the other possible diagnoses were both devastating and not in Green’s area of expertise, she chose not to mention them.
But Jack’s appointment in March 2010 changed the trajectory. Green was visibly concerned, DeWitt recalled, as she watched him move and about his difficulty walking. “She just sat there and looked at him” and suggested that his mother follow up immediately with the pediatric neurologist.
Green said later that she did not mention the name of the illness she feared Jack might have because he was present; instead, she encouraged DeWitt to call her after seeing the neurologist if she wanted to talk further.
When DeWitt got home, she began researching the causes of ataxia, typing Jack’s symptoms into a search engine. What she found was heart-stopping. “We read down that list and it kind of clicked,” she recalled.
Jack’s symptoms were consistent with a rare, degenerative genetic disorder most often seen in those of European descent called Friedreich’s ataxia, or FA. It was, Green said later, the diagnosis uppermost in her mind.
First described by a German physician in the mid-19th century, the disease often begins in childhood and causes neurological problems, chiefly difficulty walking, as the nerves of the spinal cord degenerate along with the part of the brain that controls balance and movement. FA occurs when a person inherits two defective FXN genes, one from each parent, who usually shows no symptoms. Some FA patients develop heart disease or diabetes; cognitive functions are not affected. In 1996, an international research team identified the defective gene and scientists developed a genetic test for it.
Many of those affected show symptoms between the ages of 5 and 15, according to the National Institute of Neurological Disorders and Stroke, although some people do not develop the disease until well into adulthood and others are diagnosed as toddlers. It is estimated that one in 50,000 Americans has FA; the average life expectancy is about 38 years. Although there is no effective treatment, supportive therapies can help patients delay the loss of motor functions.
“We tried to balance between the worry and fear and knowing that we shouldn’t jump to conclusions,” DeWitt recalled. Two weeks after seeing Green, a pediatric neurologist ordered the genetic test for FA. And because Jack was troubled by a new symptom — a racing heartbeat — he saw a pediatric cardiologist who diagnosed hypertrophic cardiomyopathy, a thickening of the heart muscle that can result in sudden death.
The genetic test confirmed the family’s worst fears: Jack had a severe form of FA, an illness that his mother said “has no treatment or cure and that robs him of his abilities and his future.” Two years after his diagnosis, his parents remain hopeful that a treatment will emerge in Jack’s lifetime. DeWitt said she knows of no other cases in her family or her husband’s. Jack’s younger brother has been tested; he, like his parents, is a carrier, as is one in every 90 Americans.
Green said she now believes that what looked like mild cerebral palsy was in fact the early manifestation of FA.
DeWitt said she is grateful for the years her family did not know the truth. “I would not trade those years of doing everything we were already doing for the sadness and life-changing experience that dealing with FA is,” she said.
One of the most searing moments occurred several months ago, when the family was attending an FA conference. “Jack asked me, ‘So you might live longer than I will?’ ” his mother recalled. His parents, who are in their mid-40s, had to tell their 12-year-old that the answer was probably yes. “In kids [like Jack],” she said, “you definitely start worrying when they’re in their 20s.”
But the DeWitts are determined not to spend their time dreading the future. “We knew we needed to do whatever we could for Jack and to enjoy every moment and not look backward with regret, and that’s what we’ve done,” DeWitt said.
Jack, a seventh-grader who is set to celebrate his 13th birthday at the end of the month by hosting a party at home with friends, said the hardest part is not being able to do what his friends can. He is in a wheelchair full time and attends school with an aide. When he feels down, he listens to rap music, plays video games or goes outside with his dog.
“You can’t feel sorry for yourself all the time,” he said. “You just have to keep going with your head held high.”
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