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 »

Can We Respectfully Disagree? Navigating Cultural Differences in Healthcare

Dr. Doug Diekema, director of education in Seattle Children’s Treuman Katz Center for Pediatric Bioethics.

Providers often must negotiate with patients and families, but how should disagreements be addressed when the discrepancy is rooted in the patient’s culture or beliefs?

The Journal of the American Medical Association published an example of such a dilemma in 2008.

“Ms. R” was a 19-year-old woman who lived in the United States for several years while her parents lived abroad. She underwent an elective cranial surgery related to complications of a genetic syndrome.

The neurosurgical procedure was successful, and Ms. R seemed to be doing well until 10 days later when she complained of an acute, severe headache and quickly became unresponsive.

Ms. R had suffered an intracranial hemorrhage. Following repeated apnea tests, she was declared brain dead.

Because Ms. R’s parents had not been able to say goodbye, she was kept on a ventilator, pending their arrival.

Her father, who held Ms. R’s durable power of attorney for healthcare, arrived within 24 hours of the declaration of death. He requested the ventilator be continued and asked the provider to administer a traditional Chinese medicinal substance to Ms. R.

The father explained the substance is often used in his native country for a range of conditions, including coma. He asked the treating team to combine “the best of Western and Eastern medicine” to benefit his daughter.

Providers were unsure how to proceed. Should they comply with the family’s request, even though they felt certain it would not benefit the patient’s physical condition?

Read full post »

When a Child Dies, Program Helps Grieving Siblings

Jenna and Braden Westerholm play together. Braden lost his sister to rhabdomyosarcoma in 2009.

In February 2006, Chris and Michele Westerholm’s 2 1/2-year-old daughter, Jenna, was diagnosed with rhabdomyosarcoma – a cancer made up of cells that normally develop into skeletal muscles. At the time, Michele was 11-weeks pregnant with her son Braden.

“It was frightening to imagine what life would be like, having a child with cancer and a newborn,” Michele said. “I didn’t have the time or the energy to plan for adding a new baby to our family.” Read full post »

Newborn Screening for Rare Disorders Becomes Researcher’s Lifelong Mission

Kaitlyn and Ryan Wyckoff travel from their hometown of Wasilla, Alaska, to Seattle Children’s so Dr. Sihoun Hahn (center) can monitor and treat them for Wilson disease — a rare genetic disorder.

For the first 15 years of his life, Ryan Wyckoff appeared to be a perfectly healthy, active teenager, living with his family in Wasilla, Alaska.

But during New Year’s weekend in 2009, Ryan began to feel seriously ill. He was lethargic and had a high fever that could not be controlled by acetaminophen.

Ryan was so sick he could barely make the trip to his family doctor. The doctor thought Ryan looked jaundiced and referred him to their local hospital, but providers there found nothing wrong so they sent him home.

Ryan’s symptoms worsened. He gained 15 pounds in just a couple days as fluid built up in his abdomen. Ryan’s mom, Lisa Wyckoff, remembered how her tall, slender son looked like he was pregnant.

An MRI revealed Ryan had cirrhosis — advanced scarring in his liver. His condition was life-threatening, so he was flown to Seattle Children’s by Medivac.

“It’s terrifying to have something seriously wrong with your son that no one can figure out,” said Lisa. “We felt so helpless.” Read full post »

A Life Saved Leads to Dream Job: One Biostatistician’s Journey from Kenya to Seattle Children’s

Frankline Onchiri with his daughters (left to right) Nicole and Joey and his wife Everline.

It seems impossible for Dr. Frankline Onchiri to talk about Seattle Children’s without smiling.

When Onchiri joined Seattle Children’s Research Institute as senior biostatistician and epidemiologist in 2015, his role assisting investigators at the Center for Clinical and Translational Research was so much more than a professional dream come true. It also started the next chapter of a personal journey that brought his family from Kenya to Seattle – not once, but twice – and offered him the rare opportunity to work at the hospital responsible for saving his daughter’s life. Read full post »

When Brain Surgery Is the Family Business: A Father’s Day Story

Dr. Jeff Ojemann with his dad, Dr. George Ojemann

Dr. Jeff Ojemann with his dad, Dr. George Ojemann.

For Dr. Jeff Ojemann, chief of the Neurosurgery Division and director of epilepsy surgery at Seattle Children’s, neuroscience is not just a passion – it’s the family business. His father, Dr. George Ojemann, was also a neurosurgeon and a national pioneer in the treatment of epilepsy.

As we near Father’s Day, we asked Ojemann about his dad and how their relationship influenced his career choice. Read full post »

Research Continues to Disprove Link Between Autism and Vaccines

King_Bryan_Small

Dr. Bryan King worries that each time the media includes the MMR vaccine and autism in the same sentence, even if reporting the lack of association, the false idea of a linkage between the two is perpetuated.

A significant body of validated research over the last 15 years has found no link between the measles-mumps-rubella (MMR) vaccine and autism spectrum disorders, yet the false myth that this vaccine may cause or intensify the disorder continues to circulate among some families of children with autism. As a result, some parents delay or forgo the life-saving MMR vaccine for their children.

A new study, led by The Lewin Group and titled “Autism Occurrence by MMR Vaccine Status Among U.S. Children With Older Siblings With and Without Autism,” has been published this week in the Journal of the American Medical Association (JAMA). This study further refuted the concern that children who are at higher risk of developing autism could be negatively impacted by the MMR vaccine. The study included approximately 95,000 children with older siblings and found that receipt of the MMR vaccine was not associated with an increased risk of autism, regardless of whether older siblings had autism.

Dr. Bryan King, director of Seattle Children’s Autism Center and Department of Psychiatry and Behavioral Medicine at Seattle Children’s Hospital and an investigator in Seattle Children’s Research Institute’s Center for Child Health, Behavior and Development, has written an editorial published in the same JAMA issue addressing this research and the controversies that surround it. On the Pulse sat down with King to learn more about these important issues. Read full post »

Seattle Children’s Research Institute to Host International Conference on Immunotherapy in Pediatric Oncology

Dr. Mike Jensen, director of the Ben Towne Center for Childhood Cancer Research at Seattle Children’s Research Institute, will be a keynote speaker at the 4th International Conference on Immunotherapy in Pediatric Oncology.

Dr. Mike Jensen, director of the Ben Towne Center for Childhood Cancer Research at Seattle Children’s Research Institute, will be a keynote speaker at the 4th International Conference on Immunotherapy in Pediatric Oncology.

On Sept. 25 and 26, Seattle Children’s Research Institute will host the 4th International Conference on Immunotherapy in Pediatric Oncology (CIPO2015), “Examining the Emerging Therapeutic Potential of Immunotherapy in Pediatric Oncology.” This two-day program brings together scientists and healthcare leaders from around the world to discuss the latest immunotherapy research in the field of pediatric oncology.

“We expect to bring together hundreds of national and international oncology and immunology professionals with the goal of providing opportunities for scientific exchange, collaboration, problem-solving and mentoring,” said Dr. Mike Jensen, director of the Ben Towne Center for Childhood Cancer Research at Seattle Children’s Research Institute. “The conference will provide a venue to present new data and explore emerging concepts in an effort to bring immune-based therapies to more children with pediatric cancer.” Read full post »

Clinical Trials Aim to Determine Best ADHD Treatments

Dr. Mark Stein is leading several ongoing research studies to improve ADHD treatments.

Dr. Mark Stein is leading several ongoing research studies to improve ADHD treatments.

Seattle Children’s Program to Evaluate and Enhance Attention, Regulation and Learning (PEARL) clinic aims to treat children with attention deficit hyperactivity disorder (ADHD) and associated problems using the newest and most effective treatments available. To determine which of those treatments is most appropriate for each patient, Dr. Mark Stein, director of the PEARL Clinic and investigator in Seattle Children’s Research Institute’s Center for Child Health, Behavior and Development, is leading several ongoing research studies that are currently enrolling patients. Read full post »

Genetics Research Improves Diagnosis, Treatment of Rare Metabolic Diseases Around the World

Dr. Sihoun Hahn led a collaborative research study which helped a 10-year-old girl walk for the first time in her life.

Dr. Sihoun Hahn led a collaborative research study which helped a 10-year-old girl walk for the first time in her life.

A collaborative research study led by Dr. Sihoun Hahn, director of the Biochemical Genetics program at Seattle Children’s and an investigator within Seattle Children Research Institute’s Center for Developmental Therapeutics, has changed the lives of children around the world and helped a 10-year-old girl walk for the first time.

Research answers a parent’s prayer

Bokyung Kim, a 10-year-old living in Korea, spent most of her life confined to a wheelchair. Doctors suspected that she suffered from muscular dystrophy, but were unable to diagnose her condition. Bokyung’s parents prayed that their daughter would walk one day. So when they had the opportunity to enroll Bokyung in a collaborative research study between Seattle Children’s Research Institute, University of Washington School of Medicine and Seoul National University College of Medicine in Korea, her parents were eager to participate.

“This family never lost hope for their child,” Hahn said. “And neither did we.” Read full post »