The little girl who never sleeps brunswick anoxic seizure nhs

“By the time she was 6 months old, we knew something was definitely wrong,” Faith Stepic said. “Kaitlyn wasn’t sleeping. We weren’t sleeping. And even though we kept telling the doctors that she just wouldn’t sleep no matter what we tried, they kept telling us that nothing was wrong with her.”

Faith said though doctors initially had been concerned when Kaitlyn was born with webbed toes and without a soft spot, they ultimately came to the conclusion that the abnormalities weren’t of any medical concern. anoxic seizures in infants So when the Stepics brought up the baby’s sleep issues during routine office visits, Kaitlyn’s pediatrician recommended the typical solutions – everything from changing her feeding schedule to trying a little tough love and letting her cry it out.

When the results came back, the news was far from what the Stepics expected to hear. It turns out the disrupted sleep patterns like the ones Kaitlyn had been experiencing were characteristic of Smith–Magenis Syndrome, a chromosomal disorder that affects a small portion of the 17th chromosome.

The syndrome, first discovered by two physicians in the 1980s, is characterized by a recognizable pattern of physical, behavioral, and developmental features including characteristic, yet subtle, facial appearance; infant feeding problems; low muscle tone; developmental delays; variable levels of intellectual disability; early speech and language delays; middle ear problems; skeletal anomalies and a decreased sensitivity to pain.

“We didn’t do really well with the diagnosis,” Faith said, noting that Kaitlyn has also been diagnosed as autistic. “We love our pediatrician but he didn’t know anything about the syndrome. He did some research and put us in touch with PRISMS, an organization who helps families dealing with SMS.”

The Stepics also went home and scoured the Internet. Unfortunately, they said, it was just as void of information as the doctors. Long story short, it meant that finding a way to get Kaitlyn to sleep – and stay asleep – would remain a mystery.

Research on SMS shows that individuals who affected by the syndrome are often very sleepy during the day, but have difficulty falling asleep. what is anoxic ischemic encephalopathy Due to an inverted circadian rhythm of melatonin, the Stepics can attest that Kaitlyn awakens several times each night and rise early, usually hours before sunrise.

“While most of the medications we’ve tried have been able to help her fall asleep, we’ve yet to find anything that can keep her asleep,” John Stepic said. “That means she’s up almost every 20 minutes throughout the night. If we’re lucky, we might get an hour or two of sleep at a time.”

If the sleep issues weren’t trouble enough, the behaviors caused by the syndrome are equally problematic. Frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness and difficulty paying attention are symptomatic for the syndrome and Kaitlyn, the Stepics said, is no exception.

“Kids like her are prone to self-injury, which includes biting, hitting, head banging, and skin picking,” Faith said. “When she’s upset, Kaitlyn will bite her hands and cry. She has a tendency to bite her hands so much that her nails will fall off. It’s such a helpless feeling not being able to console your child or to make things better.”

Though doctors expect that she will eventually talk, to help find a way for her to communicate in the interim Kaitlyn attends the preschool program at the Windfall School in Medina twice a week. There she receives occupational and physical therapy and she’s also been learning how to sign.

“The only thing she’s really picked up is the word ‘more,” but it’s a start,” John said, noting that the family has also found strength in a support group for families of individuals affected by SMS. Through the group, PRISMS, the Stepics have been able to form friendships with other families – including several in northeast Ohio and one in Medina County – whose lives have been forever changed by the diagnosis.

“She picks up germs that the rest of the family never gets,” Faith said, noting that other symptoms characteristic of the syndrome are short stature, abnormal curvature of the spine, reduced sensitivity to pain an temperature, a hoarse voice. Kaitlyn also suffers from eyesight and hearing problems, which are trademark characteristics of SMS and doesn’t yet eat solid food.

“As a result, of a compromised immune system sometimes Kaitlyn misses weeks of school at a time. We have to be more mindful of a lot of things that most people take for granted. We don’t go to the malls during the holidays and we don’t take Kaitlyn to stores,” Faith said. “We limit the exposure the other kids have also and make them wash their hands or Purell all the time. anoxic tank A little cold for them can be months of illness and trips to the ER for Kaitlyn. These are not chances we like to take.”

“There are days when a video going off can set off hour-long temper tantrums,” Faith said, noting that the family’s iPad, programmed with videos of Elmo, has become Kaitlyn’s favorite toy. “As a result, someone has to be with her almost all the time.”

“Individuals with SMS have a tendency to get up during the night and walk out the door, without coats, without shoes and without telling anyone,” Faith said. As a result, the family is considering the purchase of a security system with video monitors in the future to make sure Kaitlyn remains safe. “For now, her behavior isn’t so much a factor. But that can change.”

“I was at a conference a few years ago when the father of another SMS child came up to me and said, ‘Aren’t we lucky?’” Faith said. “I thought he was crazy because I was tired, I was sad and running out of hope. anoxic encephalopathy causes And then he said, ‘Out of all the families in the world who could have been blessed with these children, God chose us.’ It turns out he was right. She’s already been able to teach us way more than we could have ever taught her. Kaitlyn’s smile can light up a room and she gives the best Kaitlyn hugs. We are better people for having her in our lives.”

“This syndrome was discovered so recently, which means most people haven’t heard of it,” Faith said. “We want to spread awareness and make sure that those suffering from SMS are diagnosed and that they and their families can get the help they need.”