All Articles in the Category ‘General’

Seattle Children’s Teachers Offer Advice During COVID-19 School Closures

The teachers at Seattle Children’s are experts at supporting kids and their families when children and teens are suddenly out of school. Scott Hampton, manager of K-12 Education Services, shares advice to support families in the community as they adjust to a new way of life while schools are closed. 

Our world is facing an extraordinary challenge right now. As the COVID-19 pandemic continues to spread, it has disrupted and influenced all aspects of life. For families with school-aged children, a primary concern in these disruptions has been the closure of schools across our region and around the world. Read full post »

Tailor-Made Fish Help Explain Genetic Conditions in Children

At Seattle Children’s Research Institute, scientists are genetically-engineering zebrafish to harbor human DNA mutations known to contribute congenital conditions in children.

More than five years ago, when Dr. Lisa Maves, a scientist at Seattle Children’s Research Institute, first started using CRISPR to make genetic alterations in zebrafish, she saw the potential for the minnow-sized fish to help doctors understand how genetic mutations contribute to a child’s condition.

“Essentially, we set out to make a patient’s fish,” Maves said. “The zebrafish has a genome that is remarkably similar to humans. As new gene editing technology was just becoming available, I wondered whether we could use this technology to create a fish that mimicked the complex genetic conditions we see in children.”

Maves hypothesized that genetically engineering the fish in this manner would help uncover how different genes affect development and cause disease. Read full post »

Rapid Genetic Testing Helps Find Answers for Sickest Kids

Rapid exome sequencing (rES), a blood test that can quickly detect genetic abnormalities, is helping obtain timely genetic diagnoses for critically ill children at Seattle Children’s.

A newborn boy was admitted to Seattle Children’s Neonatal Intensive Care Unit (NICU) earlier this year with arthrogryposis — a condition where an infant cannot move, their joints becoming frozen in place. When geneticist Dr. Jimmy Bennett met the infant, he was on a respirator and could only move his eyes.

“We didn’t know the cause of the arthrogryposis and could not tell the parents much about their son’s prognosis — whether he would ever come off the ventilator or if he would be intellectually disabled,” Bennett said. “With so little information, it was difficult to decide how to proceed.”

This family had a previous pregnancy that was similarly affected. Bennett believed the cause might be genetic and recommended rapid exome sequencing (rES) — a blood test that can quickly detect genetic abnormalities.

Less than a week later, the test identified a specific condition that led providers to administer an appropriate therapy. Before long, the child was moving.

“Never in a million years would we have tried this therapy without the genetic test results,” Bennett said. “Two weeks later, the patient was off the ventilator and moving all four limbs. It was like a miracle.” Read full post »

Mother Donates Kidney to Save Her Daughter’s Life, Advocates for Donor Awareness

At 4 months old, Raegen was diagnosed with congenital nephrotic syndrome.

Early on in Raegen Allard’s life, her mother, Francisca Allard, noticed something wasn’t quite right with her beautiful daughter. Raegen would seem upset after she ate and her stomach was enlarged. She also had a bruise around her belly button, which worried Allard further. At 4 months old, Allard took her daughter to the emergency room closest to their home in Snohomish. They told Allard she needed to be taken immediately to Seattle Children’s Emergency Department. When they arrived they received unexpected news: they weren’t going home. Raegan was admitted to Seattle Children’s Neonatal Intensive Care Unit (NICU).

Raegen was diagnosed with congenital nephrotic syndrome, a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood.

“I didn’t know what to do,” said Allard. “It was like I was watching life unfold in front of me and I had no control. All I could do was hold her hand. It was a whirlwind.” Read full post »

Keeping Tradition Alive

As friends and families gather together to observe winter holidays, many follow traditions as part of their celebrations. There are typical traditions, like lighting a menorah each night of Hanukkah, decorating a tree for Christmas, or making resolutions for the New Year. Some families have more unusual traditions, like having a dress-up theme for Christmas Eve or throwing a BBQ for winter solstice, the shortest day of the year. Some traditions instill faith, but whether faith-based or not, practicing tradition is a way to teach values, build relationships, foster a sense of belonging and create positive memories. These are all things that make a strong positive impact on the life of children.

On The Pulse asked Seattle Children’s Dr. Mollie Grow, pediatrician, and Dr. Tony Woodward, medical director of emergency medicine, to share their top winter holiday traditions. Read full post »

Helping Kids With Cleft Lip and Palate Thrive

Finding out your child will be born with a cleft lip and palate can be unexpected and distressing for many families. Plagued with questions, parents may wonder if their child will be able to thrive, have speech issues, or what their smile will look like. Dr. Craig Birgfeld, a craniofacial plastic surgeon at Seattle Children’s, enjoys being able to ease a family’s anxiety. At Seattle Children’s, he knows these families are in good hands.

“When patients come to see us they become part of our family,” said Birgfeld. “To me, the best part of our job is seeing these kids grow up and be completely normal kids. It’s hard to remember them as a baby with a cleft. That’s the true test, and one of the reasons we do what we do.” Read full post »

Ben’s Customized Prosthesis is Out of This World

Ben, 19 months old, shows off his Stormtrooper prosthesis.

With every step 19-month-old Benajmin (Ben) Bronske takes, a legion of Stormtroopers lead his way.

Born into a family of avid Star Wars fans, Ben has become a fan as well. With an infectious smile, while wearing a shirt that says, “I’m a Trooper,” Ben proudly shows off his leg. It was uniquely made just for him – it’s covered in Stormtroopers.

“He’s got a really cool leg and a story to go with it,” said Sarah Bronske, Ben’s mother. Read full post »

With a Genetic Answer, Parents Find Comfort in Son’s Rare Epilepsy

Nolan is laying on a large, fluffy, rainbow collored caterpillar stuffed animal looking at the camera

Genetic testing helped diagnose Nolan Wood, 3, with KCNQ3 epilepsy.

Even though Nolan Wood hadn’t experienced a seizure in more than two years, his parents still had questions about their son’s future.

“We wondered if there were others out there that have what Nolan has,” said Emily Wood, Nolan’s mom. “If so, what does their life look like?”

The Woods’ search for answers began when Nolan, 3, was diagnosed with infantile spasms and regression of his motor skills when he was 6 months old. Before receiving seizure medications, Nolan had hundreds of daily subtle, reflex-like seizures. Due to the regression of his motor skills, he had stopped rolling over, smiling and crying. A condition known as cortical visual impairment had also rendered him legally blind.

“When I first met Nolan, his epilepsy was under control, but the Woods had many other concerns about his progression,” said Dr. Edward “Rusty” Novotny, director of Seattle Children’s Epilepsy Program. “The information we could provide through conventional diagnostic tests, such as EEGs, only provided a limited explanation of his disease. The Woods sought information that could only come from knowing if there was a genetic cause of Nolan’s epilepsy.”

An end to the diagnostic odyssey

According to Novotny, this ‘diagnostic odyssey’ – the endless cycle of diagnostic testing leading to inconclusive answers – is often a source of anxiety for families. The Woods, having experienced their fair share of tests since Nolan’s initial diagnosis, can relate.

“That limbo of researching, speculating, trying medications and jumping from specialist to specialist is physically and emotionally exhausting,” said Wood.

At one of their early visits, Novotny suggested the family may benefit from genetic testing. He referred them to the Epilepsy Genetics Clinic – a pilot program underway at Seattle Children’s.

The Epilepsy Genetics Clinic brings together the expertise of neurologists, neurogeneticists and genetic counselors to offer genetic testing and counseling to young epilepsy patients with a high likelihood of having a genetic cause. The clinic is part of the comprehensive care Seattle Children’s offers to families with epilepsy, including neurosurgery, electrophysiology and developmental pediatric services.

Since launching the clinic in April 2016, 40 patients have received genetic testing. In about 50% of patients, testing uncovered previously unknown meaningful genetic information about the child’s epilepsy.

Getting meaningful results with genetic testing

Dr. Heather Mefford, a neurogeneticist in the Epilepsy Genetics Clinic, says these early numbers provide promising support for using DNA sequencing when first diagnosing epilepsy in infants and toddlers.

“By taking a thoughtful approach to which patients receive genetic testing, the probability we can reach a genetic diagnosis is much higher,” said Mefford. “This gives the families we work with a known genetic cause of their child’s epilepsy and can help guide immediate and future care.”

Mefford devotes her research to the discovery of novel genetic causes of pediatric epilepsy. She explains that for some, a genetic diagnosis can lead to a change in the patient’s medications, or can better predict the long-term health needs of the patient. Ruling out an inherited mutation can also help parents plan for future children.

When the Woods saw Mefford in the Epilepsy Genetics Clinic, she started by looking for any genetic clues behind Nolan’s epilepsy.

A broad assessment of the patient helps Mefford recommend the type of genetic test most likely to yield a genetic diagnosis. Whole exome sequencing, the broadest genetic test available, analyzes all 20,000 genes. On the other hand, an epilepsy panel sequences approximately 1,400 genes with known ties to epilepsy.

Before deciding on a test for the Woods, Mefford consulted with Novotny to learn about Nolan’s seizures and other contributing medical conditions. She also referred to a detailed family history a genetic counselor prepared with the Woods earlier that day. Meanwhile, the clinic worked to expedite pre-authorization from the Woods’ insurance provider to cover the cost of the test – an important step given genetic testing remains costly and coverage can vary vastly from provider to provider.

The first reported case of a KCNQ3 mutation

Nolan and his parents submitted DNA samples for whole exome sequencing – the test their insurance provider ultimately authorized. About three months later, which is the average time it takes to get results, Wood received a call from their Seattle Children’s genetics counselor.

They had found that the cause of Nolan’s epilepsy, developmental delay and regression was a spontaneous genetic mutation in the KCNQ3 gene. As Nolan was the only reported case of a KCNQ3 mutation at the time, little information about the diagnosis exists.

“It’s not a cure and it’s not a treatment, but it does give us an answer that we didn’t have before,” said Wood. “We now have a source that we can link everything else back to, and that’s a comfort.”

Since receiving the test results, Wood has connected with two other families with the same diagnosis.

“It’s incredible to have the chance to make sense of the condition with other families,” she said. “We’re finding that not having any others to look to for what to expect down the road can be a good thing.  It means our kids have the chance to set their own bar for what’s possible.”

Wood has also started a KCNQ3 Facebook group with the hope that as genetic testing is more widely used to diagnose epilepsy, others with KCNQ3 mutations can connect to learn from each other. She draws inspiration from a group devoted to children with KCNQ2 mutations – a similar, though more common condition. What started as an online community organized by parents, the group is now an international consortium with registries and research programs to develop better treatments and a cure.

“You can’t underestimate the power of having an answer,” said Mefford. “Increasingly families use that information to connect with other families around a genetic diagnosis. That experience is really important for families to share. It can also open the door to future research opportunities.”

Genetics will one day direct therapies

While it’s not always possible today, the long-term hope of the Epilepsy Genetics Clinic is that providing a genetic diagnosis will help direct therapies.

“Oftentimes, families with a genetic diagnosis seek out research programs that are studying their child’s gene,” said Dr. Ghayda Mirzaa, a fellow neurogeneticist in the clinic and a researcher in the Center for Integrated Brain Research. “As we gather more information, we can better understand the genetic causes of epilepsy and more excitingly, translate this knowledge into more targeted therapies.”

Mirzaa and her colleagues made an important discovery along these lines when they unmasked a hidden link between epilepsy and genetic mutations in a molecular pathway also involved in certain types of cancer. Considering that cancer drugs targeting this pathway already exist, she is hopeful they may prove effective in treating epilepsy with this genetic mutation too.

“It’s the way of the future,” said Mirzaa. “Rather than focusing on the characteristics of the seizures such is the case with anti-epileptic medications, new therapies based on the underlying genetics of a patient’s epilepsy will address the root cause of the seizure.”

An infinite range of possibilities

The Woods are excited to see advances in genetics lead to new research avenues for Nolan and other children with epilepsy.  But for now, the answer genetic testing gave them is allowing them to put their energy toward new adventures.

“Right now we’re transitioning,” said Wood. “Turning 3 has brought a lot of changes for Nolan. He’s about to start preschool and that’s big and exciting.”

With each sign of progress, Wood likes to raise Nolan’s imaginary bar one rung higher. This summer, Nolan’s vision unexpectedly returned.

“It was absolutely bananas,” said Wood of Nolan acing his recent vision test at Seattle Children’s. “When you don’t know what to expect, the future can hold an infinite range of possibilities.”


Special Forces of Life Strengthen Bond Between Hudson and His Uncle Trevor

Hudson received a portion of his uncle’s liver in July as part of a living donor liver transplant.

Jordan and Morgan Hill carry with them everywhere a custom-made coin inspired by their son’s liver transplant and the man who saved his life.

Morgan had the coin made weeks before his older brother, United States Army Special Operations Command Lt. Col. Trevor Hill, flew to Seattle from his home in North Carolina to donate part of his liver to his 8 ½-month-old nephew, Hudson.

“My brother saved our son’s life,” Morgan said. “Trevor has had what is called a challenge coin throughout his military career. It’s a sign of respect. It’s a symbol of someone’s unit and their life, and I wanted him to have one representing the incredible gift he gave us.” Read full post »

Crooks Family Turns Tragedy Into Change With Washington State’s First Mental Health Summit

Chad’s Legacy Project has been a driving force behind the first-ever Washington State Mental Health Summit. Laura Crooks (right) and her husband, Todd Crooks, started CLP in honor of their son, Chad Crooks (left), who died tragically months after he was diagnosed with Schizophrenia.

Laura and Todd Crooks have experienced personal devastation from losing a loved one whose mental health issues weren’t properly addressed. Their son Chad took his own life eight months after he was diagnosed with Schizophrenia, on Jan. 21, 2016.

The professional help the gifted 21-year-old college student required wasn’t readily available when he needed it most.

The Crooks have since openly shared their family story in an effort to help others. They also started Chad’s Legacy Project (CLP), an endeavor in memoriam, to advance mental health education and innovations in the evaluation and treatment of mental illness.

CLP is realizing its mission, serving as the driving force behind the first-ever Washington State Mental Health Summit, which will take place on Thursday, Oct. 5. A portion of the more than $100,000 CLP has raised is covering the costs of the Summit.

Read full post »