Neurosciences

Hamilton McNamee enjoys a snack.

From his appearance alone, 3-year-old Hamilton McNamee looks like a typical kid. He is rambunctious and playful with strawberry blonde hair and a mischievous smile.

As he climbs on the tables and chairs in Starbucks at Seattle Children’s Hospital, his mother Claire casually states, “He’s going to wander around a little. It’s fine.”

What’s different about Hammie, as his family affectionately refers to him, is that he has a condition known as tuberous sclerosis complex (TSC), a rare genetic disease that causes tumors to grow in various parts of the body, including the brain and other vital organs. Though the tumors are benign (which means they aren’t cancerous), they impact a child’s development in a variety of ways depending on where they grow and how big they get.

At age 2, Hammie experienced some seizure-like behavior after a bout with hand, foot and mouth disease. His primary care provider referred Hammie to Seattle Children’s First Seizure Clinic where tests revealed that he had growths in his brain and he was diagnosed with TSC.

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Twins Hendrix (left) and Harper were diagnosed with SMA Type II in summer 2015. They have made tremendous progress since beginning a breakthrough treatment in February 2017 at Seattle Children’s.

Spinal Muscular Atrophy (SMA) had progressively taken away the strength of 3-year-old twin brothers Harper and Hendrix to lift a cup of water, crawl or even take a deep breath on their own. Without access to a breakthrough treatment for the incurable genetic condition, the regression of their motor skills was certain to continue, potentially to the point that it was life-threatening.

So moments like the one that unfolded between Harper and Hendrix in a Seattle Children’s recovery room shortly after their fourth infusion of the new drug, Spinraza, represented much more than brotherly play to their parents, Crystal and Noe Ramos.

Harper raised his right arm high above his head and paused briefly before snapping it down in front of him as he released a makeshift ball of medical tape and paper. The object bounced and then skidded on the floor before it came to rest near Hendrix, who gave it a casual glance before returning his attention to the iPad in his lap he gripped firmly with his fingers.

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Priscilla, 7, has always been encouraged to try new things. Although she was diagnosed with cerebral palsy at 1 years old, she hasn’t let it slow her down. She lives by the motto: The sky is the limit.

Throughout 7-year-old Priscilla Campos’ life, she’s been empowered by her parents to try new things. Her mother, Shannon Cruz, says their family lives by a simple motto: The sky is the limit.

It’s a lesson Priscilla has taken to heart. She’s always believed she could do anything, and she’s proven she can.

“She reaches for the sky,” said Ruben Campos, Priscilla’s father. “There are no limitations. I always tell her she can do anything, and then she does. She’s incredible.” Read full post »

Carmen Einmo, 16, suffered a concussion after falling off a horse. A new study shows that incorporating psychological care and coordinated care improves outcomes for adolescents with persistent concussion symptoms.

Concussions can create a host of symptoms—headache, dizziness, moodiness, upset stomach and other issues. In most cases, those symptoms eventually dissipate, but about 15% of young people who get concussions struggle with persistent symptoms despite seeing doctors and receiving medical care. The ongoing symptoms interfere with school, social life and physical activity.

Researchers at Seattle Children’s Research Institute published a study today in the journal Pediatrics showing a new intervention for adolescents with persistent post-concussive symptoms that improved health and wellness outcomes significantly. The approach combines cognitive behavioral therapy and coordinated care among providers, schools, patients and families.

“We were pleased to find that using an approach that adds a psychological care component to treating concussions and providing coordination of care in areas of the patient’s life significantly improved outcomes,” said Dr. Cari McCarty, a psychologist and researcher at Seattle Children’s Research Institute who led the study. “This new approach aims to improve the quality of life for patients who were otherwise left to deal with unrelenting concussion symptoms.” Read full post »

Dr. Philippe Coulon thinks electrical signals directly exchanged between brain cells may hold promise as a potential target for absence epilepsy treatments.

A child with absence epilepsy may be in the middle of doing something—she could be dancing, studying, talking—when all of a sudden she stares off into space for a few moments. Then, as quickly as she drifted off, the child snaps back into whatever she was doing, unaware that the episode occurred.

That brief moment of disconnect from reality is called an absence seizure, and according to the Epilepsy Society, childhood absence epilepsy accounts for 2-8% of all epilepsy diagnoses. Most cases of childhood absence epilepsy end after puberty, but about 30% of cases continue into adulthood or lead to other forms of epilepsy, says Dr. Philippe Coulon, a neuroscientist at Seattle Children’s Research Institute.

“Some kids can have hundreds of these brief seizures a day,” said Coulon. “I can only imagine how hard it is for them to function and have a normal childhood.”

In a study published in the Journal of Physiology, Coulon and his colleagues suggest that electrical signals directly exchanged between brain cells may hold promise as a potential target for absence epilepsy treatments. Read full post »

This image shows neurons in the newly identified PiCo region of the brain. The researchers used staining techniques to identify the chemical identity of the neurons, which helps give insight into their function.

Neuroscientists at Seattle Children’s Research Institute have discovered an area of the brain that plays a key role in breathing. In a study published in the journal Nature the researchers describe the newly identified area of the brain, which they found plays a key role in exhalation.

“In healthy people, breathing is something we do whether or not we consciously think about it,” said Dr. Nino Ramirez, Director of the Center for Integrative Brain Research at Seattle Children’s Research Institute. “This paper describes a part of the brain that is active during passive exhalation, which is important for swallowing, speaking, coughing, and other behaviors that occur after an inhalation.”

The researchers called this region of the brain the postinspiratory complex, or PiCo. Further study and understanding of how this region of the brain works could lead to the development of new treatments for certain neurodegenerative diseases that involve breathing abnormalities.

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Bella Anderson, 18, missed nearly two months of her senior year waiting for a heart at Seattle Children’s.

Isabella (Bella) Anderson, 18, was running out of time. Her heart was failing and doctors didn’t know how much more it could withstand. She needed a change in luck and some good news.

Finally, Bella got just that: a surprise and the news she’d been waiting for.

A long road to transplant

At only 10 years old, Bella went to see the doctor for strep throat, but doctors found something more alarming: a heart murmur. She was diagnosed with hypertrophic cardiomyopathy, a disease of the heart muscle’s wall.

From that day forward, she was monitored closely by Seattle Children’s Heart Center, one of the best pediatric cardiology and cardiac surgery programs in the U.S., and the top-ranked program in the Pacific Northwest, according to U.S. News & World Report.

Unfortunately, as time progressed, so did her heart condition. Cardiomyopathy reduces the heart’s ability to pump blood effectively and can lead to congestive heart failure.

Slowly, her heart began to fail. Read full post »

Addison, 3, suffered a stroke at birth.

Words can hit like a ton of bricks. For Kaysee Hyatt, it was four words that hit her so hard her world momentarily stopped.

At the start of a weekend camping trip with her family, she received a call from her doctor with the results of her daughter’s magnetic resonance imaging (MRI), “It was a stroke.” The world faded before Hyatt and the isolation of such a diagnosis set in, not only for her, but for her baby girl, Addison.

Before that moment, Hyatt had never heard of pediatric stroke, but as she would find out, it was not that uncommon. Approximately one in 2,000 newborns have a stroke each year. For children age 1 to 18, stroke occurs in about 1 out of every 20,000. Addison suffered her stroke during birth.

Addison’s family noticed something was wrong in her first few months of life; her mobility was limited and she completely favored her right side. When she was 6 months old, they received the diagnosis that explained why.

Stroke happens when blood that carries oxygen stops flowing to the brain. Within minutes, brain cells can begin to die, which can lead to stroke symptoms and can sometimes cause neurological issues or death. Read full post »

Alden Bernate, 12, needed neurosurgery to stop his relentless seizures. Brain tissue donated from that surgery led to a discovery of a gene linked to intractable epilepsy.

Alden Bernate, 12, is only a middle school student, but he’s already played a big part in groundbreaking epilepsy research. He donated brain tissue for scientific research after he had surgery to disconnect part of his brain that was causing severe seizures.

The human genetics team at Seattle Children’s Research Institute, led by Dr. Ghayda Mirzaa and Dr. William Dobyns, used Alden’s brain tissue along with the tissue from other patients to discover a new gene mutation that can cause intractable epilepsy. The finding opens the door to potential treatments that target that gene. The team’s findings are published in the current issue of JAMA Neurology. Read full post »

Nina was at Seattle Children’s selling her art to raise money for the hospital when a chance encounter reunited her with Dr. Richard G. Ellenbogen, the doctor who performed her life-saving operation.

Neurosurgeon Dr. Richard G. Ellenbogen and his former patient Nina Jubran share two important skills: As a surgeon and an artist, they both have great attention to detail and hands that are used to doing very delicate work. They also have another profound connection: Ellenbogen saved Nina’s life 12 years ago today when she came in for neurosurgery to remove a dangerous brain tumor.

Nina, 22, is an artist and a student at the University of Washington studying sociology. In her spare time, she makes and sells delicate clay figurines like miniature scenes of penguins fishing, ornate bouquets and families of teddy bears. To thank Ellenbogen for saving her life, Nina made him clay figurines 12 years ago of a teddy bear and puppies that still sit on his desk.

Recently, Nina was at Seattle Children’s selling her figurines to raise money for the hospital when a chance encounter reunited her with the doctor who performed her life-saving operation. Ellenbogen was having a busy day with surgeries, and he went out for a quick cup of coffee before heading into his next operation.

“When I saw Nina, my heart skipped a beat,” Ellenbogen said. “It made my day to run into a former patient. I am so proud that she is out there being successful and doing what she loves. That is what drives me as a doctor.” Read full post »