Fourteen-year-old Emily Blosberg loved horseback riding, dance class, Girl Scouts, and her church youth group. She was student council president of her ninth-grade class and part of a tight circle of friends. In other words, the Shoreview, MN, teen was a typical kid—until the day her right hand and arm began tingling, then went numb. “My hand felt weird, like I was wearing a glove on just the fingertips,” she says. After blood work, a magnetic resonance imaging (MRI) scan, and an electromyography (EMG) test, doctors diagnosed Emily with “teenage anxiety.”
Since she soon felt better, her family didn't pursue the matter. But less than two weeks later, her symptoms worsened. “She couldn't see straight or walk straight,” says Emily's mother, Andrea. “She was finding it hard to stand.” Andrea called the clinic where Emily had been tested and was told by the on-call neurologist that Emily was probably experiencing “teenage hyperventilation” as a result of all the medical tests she'd undergone. Besides, Andrea was told, there were no available appointments for two weeks.
In that time, Emily's symptoms worsened until she was unable to walk unassisted. “It was really scary, and the doctors didn't seem concerned about seeing her right away,” says Andrea. Instead, they advised Emily to breathe in and out of a paper bag to get more carbon dioxide. “They said, ‘You're just anxious,’” recalls Andrea. “I've seen kids who are anxious. This was not that. This was a full-body response to something else going on.”
It was a year before the Blosbergs received a diagnosis: pediatric-onset multiple sclerosis (MS). The family finally had an answer, even if it was not one they—or their doctors—had ever expected.
The Blosbergs' experience is not unique. Missed or delayed diagnoses are not uncommon when young people show symptoms of diseases that normally affect adults. Most cases of MS, for example, occur between the ages of 20 and 50; 34 is the average age of diagnosis. In younger patients, physicians may not think the symptoms suggest MS and may not order an MRI or lumbar puncture (also known as a spinal tap) or other tests that would lead to a correct diagnosis and earlier treatment.
“Nobody's ever prepared to have a diagnosis like multiple sclerosis or a stroke with children,” says Bruce H. Cohen, MD, FAAN, director of the NeuroDevelopmental Science Center and of Pediatric Neurology at Akron Children's Hospital in Ohio. “Early on in an illness, symptoms can be so mild that even the most caring physician can miss them.”
Stroke is another disease that is more commonly associated with older people who've had a lifetime of bad habits and/or bad health, says Abdalla Ali Abdalla, MD, a child neurologist at Akron Children's Hospital. “I don't think the public is aware that strokes can happen in children,” he says. “Even doctors need to be educated so they recognize the signs and symptoms to act early and efficiently. We're basically telling emergency room physicians, ‘If a child comes in with a headache on one side, initiate the stroke protocol.’”
That's a message Mary Kay Ballasiotes, co-founder and president of the International Alliance for Pediatric Stroke, hopes to spread. “We're finding that the diagnosis of stroke is often delayed or missed in both perinatal strokes—those that occur from pregnancy through a child's first month of life—and childhood strokes, which occur between one month and 18 years,” says Ballasiotes, whose advocacy group works closely with the American Heart Association. “If an elderly person comes in [to the ER] with a drooping face and a limp arm, doctors immediately think of stroke. But if a 6-year-old comes in with the same signs and symptoms, they look for everything else first. Time is brain at any age, and minutes count, especially for children.”
Sleep apnea, a condition characterized by brief interruptions of breathing while asleep, is also often overlooked in children. Undiagnosed, sleep apnea can have devastating long-term effects on developing bodies, says Daniel Combs, MD, professor of pediatrics at the University of Arizona's Banner Children's at Diamond Medical Center, who specializes in sleep medicine. “Every time a child pauses while breathing, her oxygen levels go down, then come back.” That triggers the fight-or-flight response and puts the nervous system on high alert, spiking blood pressure, he says. “That can be the reason behind underlying problems like fatigue, irritability, a compromised immune system, and even learning disabilities.”
Fortunately, if diagnosed early, sleep apnea can be eliminated with treatments such as surgery to remove tonsils, oral appliances to expand the palate, or positive airway pressure therapy, says Rafael Pelayo, MD, a sleep specialist with the Stanford Sleep Medicine Center in Redwood City, CA.
Children who have conditions that normally occur in adults face unique challenges. They may not get a timely diagnosis or find appropriate treatment, for example, and they may be ostracized or teased by their peers. For help navigating those challenges, we spoke with families and children who have overcome these obstacles, as well as experts in pediatric MS, stroke, and sleep apnea.
PUSH FOR A DIAGNOSIS
The Blosbergs did not return to the clinic where doctors suspected Emily's problems were more mental than physical. Instead, they went to a local university hospital, where a neurologist ordered a lumbar puncture. When Emily finally received the MS diagnosis, the family took it in stride. Emily's father also has the disease, diagnosed in 1998 after he woke one morning with one side of his face slumped and his speech slurred. No one in the Blosberg family recognized the disease in Emily, however, because her symptoms were so different, says Andrea. She was physically exhausted, sometimes sleeping for 20 hours a day, and had pain in every limb.
Still, Andrea says, she knew something was wrong. That's why she kept pushing. “I was asking questions, trying to help by offering input. I wish more doctors had paid attention to my input.”
It took Lori Brady, a similarly single-minded parent, four years before her son, Nicholas, was diagnosed with MS. His symptoms first appeared when he was a toddler. He said his arms and legs felt as though they were on fire. At the time, about 15 years ago, pain was not considered a symptom of MS, Lori says. Doctors first diagnosed acute disseminated encephalomyelitis (ADEM), a brief but intense attack of inflammation in the brain and spinal cord, which sometimes affects the optic nerves. ADEM can look like MS, with similar symptoms like loss of vision, weakness, numbness, and loss of balance. More than half of ADEM cases develop after a child has fought a viral or bacterial infection, like a sore throat or cough, says Keith Van Haren, MD, a neurologist at Lucile Packard Children's Hospital Stanford in Palo Alto, CA.
“We were told it would get better, but the timeline for when that would happen just kept getting longer and longer,” says Lori, of Mickleton, NJ. “Then they called it recurring ADEM, which is odd, as ADEM is supposed to be acute.”
When her son's symptoms persisted, Lori made note of them and widened her search, looking for a doctor who would trust her observations about the changes in her child. “We were fortunate to have a pediatrician who knew our son before the dramatic changes and shared our concerns when other doctors just dismissed them. After much searching, we connected with neurologists who were studying pediatric MS at a time when most did not believe children got the disease. Nicholas was diagnosed at age 6.”
BE ALERT TO SYMPTOMS
Mia Amdur's path to a sleep apnea diagnosis was relatively short, mainly because her father, Adam, had been diagnosed with the condition and started noticing Mia's unusual nighttime breathing. She would stop breathing for a bit, then sigh. It was not the usual gasping sound most adults with sleep apnea make, but it still concerned him and prompted him to take her to a sleep center for testing. Connected to electrodes, Mia was monitored by doctors as she slept. They saw that she stopped breathing 27 times in an hour, meaning she had a moderate case of sleep apnea.
Immediately, her parents wondered if her psoriasis, a condition she'd had since birth and that no drugs or other treatment seemed to alleviate, and the 2-year-old's occasional temper tantrums, were the result of an immune system compromised by disrupted sleep. “People said, ‘Oh, it's the terrible twos,’ but once we got the sleep apnea under control, those other problems went away,” Adam says.
Diagnosis of sleep apnea in children is tricky because symptoms such as hyperactivity and inattentiveness can resemble those of attention deficit disorder (ADD), says Dr. Pelayo. Sleep apnea in children generally first appears between the ages of 3 and 6, the same ages when many ADD diagnoses are made. “It's estimated that as many as 25 percent of children diagnosed with ADD actually have sleep apnea,” he says. “Sleep disruption should be considered before any kid gets labeled [with ADD].” In many cases, once the sleep apnea is treated, the behavioral problems disappear, he says.
Other clues of sleep apnea include bed-wetting, night sweats, heartburn, excessive tossing and turning, and weight gain, says Dr. Pelayo. Children may also have trouble gaining weight, since gasping for every breath burns so many calories. Sleep apnea also runs in families, so if one parent has the condition, the family should be on the lookout for it in the children. Listen for noisy breathing, says Dr. Pelayo. Children should wake up feeling rested. They should breathe through their noses, not their mouths. Breathing should be silent: if a child's breathing is audible in any way, it could indicate turbulent airflow.
TRUST YOUR INSTINCTS
Sometimes parents have a gut feeling about their child's condition. In the case of Janelle Paquette, the feeling that something was seriously wrong with her toddler was overruled by hospital personnel. Five years ago, her 3-year-old daughter, Bella, woke in the middle of the night moaning and asking her mother to pick her up. She had a slight fever and was vomiting. Janelle and her husband, Calvin, assumed she had a stomach virus. Janelle stayed up with her that night, treating her with sport drinks and crackers and monitoring her symptoms. She was relieved when Bella finally fell asleep around 7 am, thinking she would sleep off the bug.
When she tried to rouse Bella a few hours later to give her more fluids, her daughter couldn't sit up. The Paquettes rushed Bella to the nearest hospital, where they spent hours first in the waiting area, then in an examination room, before a physician could visit. During that time, Bella, who had a 102-degree temperature and couldn't stand, had two seizures. Only then was she transferred to a children's hospital. Doctors there determined Bella had had a stroke. She would have at least one more stroke before she died a week later. An autopsy confirmed those findings and, through the process of elimination, concluded that the initial incident had been brought on by a virus.
Would the outcome have been different if doctors had immediately looked for signs of a stroke? Janelle Paquette is unsure. “That was almost five years ago, so we don't know. Maybe today it would be different.” Paquette and her husband established the Bellaflies Foundation, a nonprofit organization dedicated to helping families affected by pediatric stroke and increasing awareness of the condition among children.
Stroke is difficult to diagnose in children, partly because other more common and less serious conditions can mimic a stroke, says Rebecca Ichord, MD, associate professor of neurology and pediatrics at the University of Pennsylvania's Perelman School of Medicine and director of the pediatric stroke program at Children's Hospital of Philadelphia. “It takes a lot of considered thought and careful examination to do a neurologic assessment in a young child,” she says. While little US research is available, studies from Canada and Europe suggest that perinatal strokes occur in between 1 in 1,500 and 1 in 3,500 newborns. In children, the rate of stroke is estimated at 6 to 11 per 100,000, according to the International Alliance for Pediatric Stroke.
The risk factors for stroke in children are also different than in adults. Stroke in children is most often caused by congenital or acquired heart disease, inherent disease of or damage to the arteries, or blood disorders such as sickle cell anemia or clotting problems. Traumas to the head or neck can also cause stroke in healthy children by damaging blood vessels, or a routine virus can be a contributing factor, as in Bella's case, says Dr. Ichord.
FIND APPROPRIATE TREATMENT
Most drugs for MS, stroke, and sleep apnea are approved for adults and haven't been tested in children, which makes treating children more difficult. The more than a dozen medications for MS, for example, are used off-label when prescribed for children, says Deborah Hertz, associate vice president of health care professional engagement for the National Multiple Sclerosis Society. Still, prescribing them has become almost routine, she says, with providers sharing best practices and experiences. Most insurance companies cover the medications.
In 2006, the National MS Society helped develop a network of MS pediatric care centers to “look at this underserved population,” Hertz says. “Pediatric neurologists don't always know how to treat MS, and adult neurologists don't always know how to treat children.” Currently, there are about 5,000 to 10,000 cases of pediatric MS in the United States, she says.
That aligns with the figure provided by Tanuja Chitnis, MD, professor of neurology at Harvard and current chairperson of the International Pediatric Multiple Sclerosis Study Group (IPMSSG), a collection of more than 150 clinicians in 40 countries who share insights and provide guidelines for formulating clinical trials for children with MS. She estimates that about 5 percent of the people diagnosed with MS each year will be younger than 18. She expects that percentage to grow as diagnostics improve.
Emily Blosberg currently takes an oral medication twice a day for her MS. Her most prominent side effects are hot flashes that can last for hours, leaving her exhausted. On her doctor's advice, she swallows a baby aspirin 30 minutes before taking her medication and changed her diet to consume more protein.
Nicholas Brady's doctors treat his MS with twice-monthly infusions that sometimes cause headache, fatigue, and nausea. He manages these side effects by staying hydrated, taking acetaminophen (Tylenol), and resting. The problems usually resolve within a few days, he says.
BEST PRACTICES FOR MS
As the pediatric MS patient population grows, so too does the interest in it. The IPMSSG has spent the last decade developing standards for diagnosing and treating pediatric MS. The group is currently raising $1 million to disseminate its research globally, including translating the findings into 28 languages.
With the help of the MS Cure Fund, IPMSSG is also creating a global registry of children with MS to share information about the best drugs to use and in which combination and doses to administer based on the patient population.
THERAPIES FOR SLEEP APNEA
Treatment for kids with sleep apnea is varied, and with the right attention sleep apnea can be corrected, says Dr. Pelayo. “The misperception is that the problem will go away on its own.”
Many children noticeably improve after surgery to remove their adenoids and tonsils. After Mia's surgery, the number of times she stopped breathing per hour dropped from 27 to 12. She also wears a rapid palate expander along with nighttime external headgear to help facilitate jaw growth. Children who breathe with their mouths open can end up with elongated faces, misaligned jaws, or mouths that develop without room for wisdom teeth, according to the American Sleep Apnea Association.
For Mia, the final step was a continuous positive airway pressure (CPAP) machine. Users wear a mask or nose piece at night while a pump supplies a constant and steady stream of air. Mia's parents had to work to convince their daughter to try that.
Now 8 years old and in second grade, Mia admits she feels better when she wears the mask to sleep—and the number of times she stops breathing per hour has dropped to two.
Most children with sleep apnea don't require CPAP machines, says Dr. Pelayo, but those who do find it less of a hassle than many adults. “Kids sleep deeper, and once they have a mask on they're okay with it,” he says.
Options for pediatric stroke are limited. The clot-busting drug tissue plasminogen activator (tPA) has resulted in excellent outcomes when given to adults within four hours of a stroke, but it's not approved for children. Doctors may still opt to administer the drug to children, but the correct dose is in question and it's very rare for a child to receive a stroke diagnosis within the optimal time frame, says Jorina Elbers, MD, a neurologist and assistant professor of neurology at Stanford University's Lucile Packard Children's Hospital.
Living with a chronic progressive condition from a young age isn't easy, but Nicholas Brady has taught others about his disease, including teachers who didn't understand why a boy who seemed healthy needed a wheelchair or extra time to finish school assignments. Nicolas no longer uses a wheelchair, but he still deals with fatigue, headaches, memory problems, and back pain.
When Emily Blosberg sensed resentment from teachers and classmates who wondered why she was getting special accommodations, she explained to her freshman biology class how MS left her feeling like she'd been awake all night even if she slept. Then she showed a video to her entire school about what life with MS was like.
“After the video, I said, ‘I'm not asking for your sympathy. I'm just looking for your support,’” recalls Emily, who also asked classmates to help her raise funds for research. “Instead of people being mad if I left to go to the nurse to rest, they'd say, ‘I'm going to give Emily my notes because she wasn't in class.’ The more you educate people, the more comfortable living with MS will be.”
Eight-year-old Mia Amdur, who has sleep apnea, is not at all self-conscious about her CPAP machine. When friends sleep over, she explains how the mask helps her, and she encourages her friends to try it out.
RECOVERY IS POSSIBLE
Michelle Ballasiotes had a perinatal stroke 18 years ago. An ultrasound revealed a brain abnormality, and a neurosurgeon present when Michelle was born noted hydrocephalus (an abnormal buildup of cerebrospinal fluid in the ventricles of the brain, also referred to as “water on the brain”) which could easily have been missed. He ordered surgery immediately to place a shunt in her head, both to drain the fluid and to relieve the pressure. Michelle started occupational and physical therapy at 6 months and continued for the next 10 years.
Now 18, Michelle plans to attend college next year to study public health or occupational therapy. Her mother, Mary Kay, of the International Alliance for Pediatric Stroke, knows her daughter is one of the lucky ones. Not all strokes are caught so early. To encourage data sharing, she created a pediatric stroke awareness website (http://united4pediatricstroke.org) last October to mark World Stroke Day.
Dr. Ichord says the effect of stroke on a young brain is double-edged. “On one hand, the developing brain is able to recover more quickly. On the other, if a function is knocked out by a stroke, the brain is forever altered, and the child will live with some effect of the stroke for the rest of her life.” Still, Dr. Ichord is optimistic about patient outcomes.
“No matter what happens to them, children have an innate optimism,” she says. “Many teenagers say, ‘I can beat this, I'll do everything I can, and I'll work really hard.’”
One of Dr. Ichord's patients, Derek Marshall, exemplifies that can-do attitude. In July 2011, the then-17-year old noticed he had a headache. No big deal, he thought at first. The pain continued for a second day, but Marshall wasn't concerned. On the third day, he couldn't move his right eye. His mother rushed him to a local emergency room, where a CT scan showed bleeding in his brain. He then underwent a 16-hour operation to contain the bleed, spending more than three months in the hospital.
At one point, he could not see or hear, and a breathing tube made speech impossible. He needed therapy to learn to talk again, and he had to move from a wheelchair to a crutch before walking on his own. Five years later, he walks with a pronounced limp, and one side of his face is slightly slack.
Doctors aren't sure what caused Marshall's stroke, but he isn't one to dwell on what could have been. He graduated with his high school class. He lives and works on his own and plans to finish college.
“My job isn't to change the situation. My job is to be the best Derek I can be,” he says. “When you have a stroke at 17, it's scary and frustrating but also inspiring and enlightening. I think this has made me a better person.”