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Born Breathless, Baby Finds Hope After Weeks on Life Support

Garrett Smith survived six weeks on life support in Seattle Children’s neonatal intensive care unit (NICU). Photo courtesy of Arlene Chambers Photography.

From the moment he made his entrance into the world, Garrett Smith struggled to breathe.

“We longed for that first cry as he was placed upon his momma’s chest,” said Kevin Smith, Garrett’s dad. “Unfortunately, we didn’t get to hear that cry. Instead, we saw Garrett gasping for air and making quiet whimpers.”

As doctors raced to get Garrett the air he desperately needed, they first transferred him to the neonatal intensive care unit (NICU) at the hospital where he was born. When his condition continued to deteriorate, they transferred him to a higher level of care at Swedish First Hill. Less than 24 hours later, the Smiths learned he would need yet another transfer, and faced the scariest decision they ever had to make as parents. Read full post »

Using Gene Therapy to Build an Immune System in Newborns Without One

Gene therapy holds promise of a potentially safer, more effective path to a cure in infants born without the critical infection-fighting cells of the immune system.

Out of every 60,000 births, a baby arrives to face the world without a fully functioning immune system leaving them unequipped to fight even the most common infections. Children with this rare life-threatening genetic condition, known as severe combined immunodeficiency (SCID), have the best chance at a healthy future if they undergo a stem cell transplant before they are 3 ½ months old.

Seattle Children’s recently opened a clinical trial that is seeking a potentially safer, less aggressive and equally effective path to a cure by using a novel gene therapy to fix the faulty gene that causes the most common type of SCID.

On the Pulse met with the trial’s principal investigator, Dr. Aleksandra Petrovic, a pediatric transplant specialist and researcher at Seattle Children’s Research Institute’s Center for Immunity and Immunotherapies, to learn more about the experimental therapy available through this trial. Read full post »

Why Reid ‘Walks Awesome’ for Hydrocephalus

When other kids ask Reid Watkins, 8, about the leg braces he wears, he likes to tell them they help him ‘walk awesome.’

The outgoing third grader was diagnosed with cerebral palsy and hydrocephalus at 16 months old. Until undergoing two surgeries over the course of two years at Seattle Children’s, both conditions had limited his ability to walk on his own.

That made taking part in this year’s Hydrocephalus Association Seattle WALK to End Hydrocephalus all the more important to Reid. For the last seven years, the Watkins family has participated in the walk at Magnuson Park as a way to raise awareness about the condition. Read full post »

Baby Makes Miraculous Recovery Days After Spinal Cord Injury

Bear Brother, 1, underwent emergency spine surgery when he was diagnosed with a neurological condition known as a Chiari malformation.

Instead of picking up balloons and cupcakes, Lisa Hannigan and Robert Brother found themselves waiting in the Pediatric Intensive Care Unit (PICU) at Seattle Children’s one day before their son’s first birthday. In less than 36 hours, they had watched as their perfectly healthy son, Bear Brother, lost use of his arms and hands before he was rushed into emergency spine surgery for a neurological condition known as a Chiari malformation.

“It all happened so quickly,” said Hannigan. “After Bear’s daycare called me at work, we got to the Toppenish emergency center around 10 a.m. First thing the next morning he was going into surgery at Seattle Children’s.” Read full post »

New Genetic Causes of Cleft Lip and Palate Revealed

Representing about 70% of cleft lip and palate cases worldwide, non-syndromic cleft lip and palate typically occurs in isolation without other physical abnormalities.

A study conducted by an international research team, which included investigators from Seattle Children’s Research Institute, implicates variants in four genes as a primary cause of non-syndromic cleft lip and palate in humans. The genes, associated for the first time with cleft lip and palate, encode proteins that work together in a network, providing important insight into the biological basis of one of the most common physical malformations. Read full post »

Rebounding Back to Life, Dominic Perseveres Past Pediatric Stroke

Dominic Donati, then 9, eating for the first time six days after he suffered multiple strokes.

Sometimes it is the simplest of moments that can bring a family with a child in the hospital the most hope. For Tony and Laurie Donati, such a moment occurred when a neurologist at Seattle Children’s Neurosciences Center handed their son Dominic Donati a pen and paper and asked him to write a sentence only days after suffering multiple strokes.

Unable to speak at the time, Dominic, then 9, wrote, “Hi. My name is Dom.”

“It makes me cry every time I think about him writing this incredibly simple sentence,” Laurie, his mom, said. “Dominic’s stroke was the most awful thing that has ever happened to our family. I think everyone in the room felt excited because it was the first time we knew that he could still communicate with us.” Read full post »

Surprising Discovery Could Improve Malaria Detection Worldwide

New research could pave the way for a rapid screening test capable of diagnosing submicroscopic malaria infections.

While the global health community has made great strides toward eradicating malaria through prevention and treatment strategies, rapid and inexpensive methods to diagnose submicroscopic malaria in individuals who have no clinical symptoms and undetectable levels of disease-causing parasites in their blood remain an unmet need.

With the unexpected discovery of a panel of peptides from several proteins encoded by the parasite that causes malaria, new research underway at Seattle Children’s Research Institute could pave the way for a rapid screening test capable of diagnosing submicroscopic infections.

Such a diagnostic test could permit the widespread screening of all individuals in high-risk regions – a practice global health experts agree is likely required to eradicate malaria. It could also provide a way to diagnose submicroscopic malaria infections during pregnancy, which bring substantial health risks for the pregnant woman, her fetus, and the newborn child. Read full post »

Food as Medicine: High-Fat Keto Diet Prescribed to Treat Epilepsy

Neurologists at Seattle Children’s prescribe the ketogenic diet for the treatment of epilepsy and other neurological conditions.

Doctors first started using the ketogenic diet to treat patients with epilepsy in the 1920s. While the diet has evolved over the decades to include less strict versions, and is gaining mainstream popularity for weight loss, children with epilepsy and other neurological conditions continue to benefit from its seizure-controlling effects.

The ketogenic diet team at Seattle Children’s Neurosciences Center takes a modern approach to help families use food as medicine. Here, ketogenic diet team members, neurologist Dr. Christopher Beatty; advanced practice provider Haley Sittner; clinical dietitian Marta Mazzanti; and nurse Deborah Rogers discuss how the diet works and how the team sets families up for success on the ketogenic diet. Read full post »

Study Shows How Group B Strep Establishes In Utero Infection, Posing Risk to Baby

Dr. Lakshmi Rajagopal’s lab at Seattle Children’s Center for Global and Infectious Disease Research is studying how group B strep establishes an invasive in utero infection during pregnancy.

Group B strep (group B streptococcus or GBS) is a common bacteria present in the vagina of about 1 in 4 women. In the U.S. and other developed countries, pregnant women are tested for GBS with those who test positive given antibiotics to help protect babies from infection. In low resource settings where GBS testing and treatment is often not accessible, invasive GBS infection leads to a large percentage of still births and an estimated 3.5 million preterm births each year.

Despite the substantial impact on pregnancy outcomes, scientists know little about how GBS establishes an in utero infection. In a paper published in the Journal of Clinical Investigation, Dr. Lakshmi Rajagopal, a principal investigator in Seattle Children’s Research Institute’s Center for Global Infectious Disease Research describes a newly uncovered mechanism by which GBS gains access to a woman’s uterus. Read full post »

Out of Breath? Braking Neurons Play Surprising Role in Rapid Breathing

New research from Seattle Children’s offers fresh insight into how the brain sets the pace of breathing.

Next time a workout has you winded, the inhibitory neurons in your brain may be to blame. This is according to new research from Seattle Children’s Research Institute that offers fresh insight into how the brain sets the pace of breathing.

In a study published in the journal Nature Communications, researchers used laser light to manipulate very specific classes of neurons responsible for breathing. The technique, known as optogenetics, helps scientists isolate neurons in the brain to study their function.

When stimulated in the lab, the researchers found excitatory neurons – the brain’s go signal – actually slow breathing, while inhibitory neurons – the brain’s stop signal – intervene to make breathing more rapid. In addition to explaining how the brain adapts breathing in response to everyday cues, the finding could lead to more precise treatments for neurological conditions that frequently involve breathing abnormalities. Read full post »