On the Pulse

Boy Donates Part of His Brain to Science, Researchers Discover Major Cause of Epilepsy

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 »

My First Mother’s Day

Keli Hansen and her family.

Keli Hansen and her family.

My first Mother’s Day was in 2004. I anticipated sleepless nights and lots of happiness around the arrival of my first son, Adam, due in early May. Instead, there were potted plants and sympathy cards and a single white rose in a blue vase after my son was stillborn just before midnight on April 24.

I’d gone in for a regular 38 week checkup, and there was no heartbeat. It’s the only vist my husband didn’t attend, since we believed what everyone had said, “Once you’re through the first trimester, everything’s fine.” I went directly from the doctor’s office to the labor and delivery floor, where I had to start the process to deliver my baby who was not alive. The medical team started to induce my labor, but then had to stop once their attention shifted to some emergency C-sections. I was left to try to sleep, while around me women were delivering their living, breathing babies. In the morning, the induction process was started again.

After Adam was born, I was reluctant to hold him. Every day, I am thankful for the nurse who encouraged me to take him in my arms. Now I wish I had taken more time with him. He is the child who made me a mother, and yet celebrating Mother’s Day was the last thing on my mind that May. Read full post »

Group of Eighth-Grade Girls Raise Money and Awareness for Mental Health

IFG

A group of seventh-grade girls formed the Island Friends Junior Guild.

In March 2015, a group of seventh-grade girls from Mercer Island came up with the idea of starting a guild to support Seattle Children’s, the Island Friends Junior Guild. They banded together and picked a cause they rarely hear their peers talk about, but believe could use a little more support: mental health.

In honor of Mental Health Awareness Month, members of the Island Friends Junior Guild are sharing their story to help inspire others to end the stigma around mental health and raise awareness for Seattle Children’s Psychiatry and Behavioral Medicine Unit (PBMU).

“The PBMU doesn’t get much attention,” said Tara Manhas, an Island Friends Junior Guild member. “Mental health isn’t really seen as a positive thing. There’s a negative stigma around it. We want to change that.”

Seattle Children’s Hospital Guild Association is the largest all-volunteer fundraising network for any hospital in the nation. In total, there are 450 different guilds that raise money for the hospital, and out of all 450 guilds, one exclusively supports the PBMU. Read full post »

New Gene Sequencing Technology Opens Door to Faster Diagnoses

Kaylyn Milligan and her son, Owen. Milligan lost two babies due to a genetic mutation she didn’t know she had. After a careful review of her genome, Dr. James Bennett was able to identify the mutation and Milligan was able to make educated family planning decisions.

There are times when a child comes to the hospital with symptoms and even after a thorough exam and many tests, doctors can have a difficult time making a diagnosis. Now, doctors and researchers at Seattle Children’s have a new tool that will be key in finding answers for patients and their families: A next generation gene sequencer that can be used to sequence DNA quickly and make diagnoses in complex cases.

The machine, an Illumina NextSeq, can sequence all of the genes in the human genome in just 24 hours. The enormous amount of data generated by this machine will be processed using the PierianDx analytical pipeline.

“This new technology will dramatically decrease the cost of gene sequencing for our patients and will help us make quicker diagnoses, especially in complicated cases,” said Dr. James Bennett, a geneticist and researcher at Seattle Children’s Hospital and Seattle Children’s Research Institute. “Families can sometimes go years without a diagnosis. Now, we’ll be able to provide more answers and identify potential therapies based on what we find in the genome.” Read full post »

The Ultimate Act of ‘Paying It Forward’: A Mom’s Lifesaving Mission

Kaden Hollis, now 11, received a lifesaving liver transplant when he was nearly 2 years old.

In honor of Donate Life Month, On the Pulse shares an inspiring story of a mother and her son that symbolizes the true act of ‘paying it forward’. Kaden Hollis was only 1 years old when he underwent a lifesaving liver transplant. Throughout Kaden’s journey, his mother Cindie knew that although the gift of life her son received could never be paid back, it could be paid forward — which is what she did when a friend was in desperate need.

Kaden Hollis was just 3 months old when his mother, Cindie Hollis, began noticing signs that indicated her baby was not well.

The whites of his eyes were turning yellow, which quickly spread throughout his entire body. He had a constant itch that resulted in awful cuts all over his delicate skin from the scratching. It was evident that Kaden had a severe case of jaundice. After numerous doctor visits and careful monitoring of his condition over the next several months, Kaden’s health was not improving. To find the answer to what was causing her son’s worrisome condition Hollis went to Seattle Children’s Hospital when he was 13 months old.

Read full post »

Family Travels Across Country for Liver Transplant to Treat Rare Disease

Trevor as a baby

Trevor was born with rare disease called maple syrup urine disease. Seattle Childrens transplant program is one of six centers in the country to offer transplantation for children with MSUD.

Only a week after giving birth to twins, a girl and a boy, in July of 2008, Annette Cole’s world was turned upside down. Something was wrong with her baby boy, Trevor Clemons. In his first couple weeks of life he was lethargic, irritable and couldn’t keep any food down. She was overwhelmed with fear as doctors delivered the difficult news.

The diagnosis felt as unreal as the name of the disease sounded: maple syrup urine disease (MSUD).

“We couldn’t believe it,” said Cole. “When we first found out about the disease, we had never heard of it before. We didn’t know what to expect. We didn’t know anything.” Read full post »

Seattle Children’s Joins Largest Autism Research Study in U.S.

Dr. Raphael Bernier is helping launch a web-based registry with DNA analysis to accelerate autism research and speed discovery of treatments.

Dr. Raphael Bernier is helping launch a web-based registry with DNA analysis to accelerate autism research and speed discovery of treatments.

Researchers know that certain genes are linked to autism spectrum disorders — scientists have identified about 50 genes, and they estimate an additional 300 or more are also involved.

Pinpointing these genes is difficult, but it could be the key to understanding the cause of a disorder that affects 1 in every 68 children in the U.S., according to the Centers for Disease Control and Prevention. One child’s diagnosis of autism and the gene that contributed to it will likely be completely different than another child’s diagnosis and genetic influences. Now, a nationwide study will create the largest bank of autism genes in the country that researchers can contribute to and use in research.

Seattle Children’s Autism Center is helping launch the web-based registry with DNA analysis to accelerate autism research and speed discovery of treatments. The SPARK study, sponsored by the Simons Foundation Autism Research Initiative, encompasses 21 leading national research institutions doing autism research.

“When we work to identify genes that cause autism, we need a huge number of individuals diagnosed with autism because each genetic event that leads to autism is rare,” said Dr. Raphael Bernier, a researcher and clinical director of Seattle Children’s Autism Center. “This large registry allows us to identify genetic trends. Once we know which genes to focus on, we can look at more individualized treatments for the future.” Read full post »

Miss Seattle Gives Back to the Hospital That Saved Her Life

Miss Seattle - Baby

Posey-Grager signs a children’s book for a young patient.

The halls of Seattle Children’s Hospital are a familiar place to Joell Posey-Grager, Miss Seattle 2016, and her family. Now 24, before she was wearing crowns and singing to audiences, she was a patient at Seattle Children’s.

Recently, she returned to the hospital not as a patient, but as a visitor to help brighten the day for other patients like her. With a little help from two very special guests, RJ Mitte, from the popular television show “Breaking Bad”, and Romi Dames, from Disney’s “Hannah Montana,” that’s exactly what they did.

Posey-Grager has always wanted to give back to the hospital that saved her life. Like the patients she visited in the inpatient playroom at Seattle Children’s, she understands the challenges of being in the hospital as a child so what better way to spread cheer than with a glittering crown and a story of hope. Read full post »

Doctor Partners On SIDS Newborn Hearing Study To Investigate Link To Inner Ear Damage

Jon Stephenson died of SIDS when he was 3 months old. His parents, Melissa French-Stephenson and David Stephenson, founded Jon’s Run, which donated $20,000 to support SIDS research by Seattle Children’s anesthesiologist Dr. Daniel Rubens.

Melissa French-Stephenson and David Stephenson know the devastation of losing a baby to Sudden Infant Death Syndrome (SIDS). In 2002, they lost their 3-month-old, Jon, to SIDS while he was at daycare. He was their first baby.

“We were late to daycare because he was in such a good mood that morning and we spent some time playing,” French-Stephenson said. “We have a video from earlier that week where he is laughing, smiling and kicking.”

The Stephensons, who live in San Antonio, Texas, now have two healthy boys, but they wanted to honor Jon’s legacy. They founded Jon’s Run, an organization that hosts a yearly 5K run that supports families who have lost a baby or young child and raises money for SIDS research.

“When you lose a baby to SIDS, you feel like they never had a chance to get started in life,” French- Stephenson said. “We were devastated when we lost Jon and felt it was important to bring other parents together who had lost a child to SIDS, or from any cause, to support each other in their grief.”

The Stephensons are committed to advancing SIDS research and Jon’s Run recently donated $20,000 to support a study by Dr. Daniel Rubens, an anesthesiologist at Seattle Children’s Hospital and principal investigator at Seattle Children’s Research Institute. Rubens will investigate a possible association between SIDS and hearing abnormalities in newborns.

“We’re excited to support Dr. Rubens’ work and hope answers come from this research,” French-Stephenson said. Read full post »

A Steady Diet of Data to Keep Refugee Kids Healthy

Dr. Beth Dawson-Hahn (left) and Dr. Anisa Ibrahim (right) study refugee children and nutrition.

Dr. Anisa Ibrahim was 6 in 1993 when her family came to Seattle from Somalia, driven from their country by civil war. In the beginning, everything about their new country was exciting and confusing — especially the supermarket.

“We were used to going to the market every day to buy fresh food,” recalls Ibrahim, now a third-year resident in pediatrics at Seattle Children’s. “It was hard to transition to buying bags and boxes of food in bulk.”

Foods the family relied on back home — like goat and guava — were not readily available. And snacks Ibrahim’s classmates pulled out of their lunchboxes — like cheese and Chex mix — were completely unfamiliar.

Unlike some refugees, Ibrahim and her siblings were healthy and well-nourished when they arrived. And thanks to her mom’s skill at cooking and adaptation, says Ibrahim, they stayed that way as they learned their way around the new food landscape.

As a doctor, Ibrahim wants to ensure other families can do the same. That’s why she carved out time during residency to work with Dr. Beth Dawson-Hahn, a pediatrician and research fellow in the Center for Child Health, Behavior and Development at Seattle Children’s Research Institute, who is studying refugee children and nutrition. Read full post »