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‘Like Looking at a Miracle’: Baby Blossoms Thanks to Gene Therapy

Arabella Smygov, 7 months, of Lynnwood, Washington was one of the first babies in the state to receive the gene therapy, Zolgensma. The U.S. Food and Drug Administration approved Zolgensma for the treatment of Spinal Muscular Atrophy in children less than 2 years of age this month.

When Arabella Smygov was diagnosed with spinal muscular atrophy (SMA) type 1 at 3 months old, the first recommendation Dr. Fawn Leigh, a neurologist at Seattle Children’s, gave her parents, Sarah and Vitaliy, was to wait on searching for information about SMA online.

This is because up until a few years ago, SMA type 1 was a fatal diagnosis. Most of the information available online painted a bleak picture. Babies diagnosed with SMA type 1, the most severe and common form of the neurodegenerative disease, usually don’t survive beyond age 2 and if they do, they require full support for breathing from a ventilator.

Leigh had good reason for wanting her parents to have hope for Arabella’s future. Two treatments, including the first-ever drug approved for the condition by the U.S. Food and Drug Administration (FDA) in 2016 called Spinraza, and Zolgensma, a gene therapy approved by the drug agency this month, are rapidly changing the trajectory for children with Arabella’s condition.

“I always remember back to when I had to offer my first SMA diagnosis,” Leigh said. “I was heartbroken to tell this young couple that we didn’t have anything for their baby. Now, we’re planning a future for these babies because we have not one, but two good treatment options.” Read full post »

Makenzie Dances Again After Pediatric Stroke

Makenzie Childs, 6, has returned to doing what she loves most – competitive dance – following a stroke in October 2017.

The lopsided smile on Makenzie’s face said it all. She had just thrown up, and her dad, Shawn Childs, was helping her get cleaned up in the bathtub.

“My husband yelled for me to come into the bathroom and then asked Makenzie to smile,” Jamie Childs, Makenzie’s mom, said. “The smile was devastating. It was only the right half of her face. I knew something wasn’t right.” Read full post »

Researchers Ready B Cells for Novel Cell Therapy

Dr. Richard James is leading research to edit human B plasma cells to act as cell factories capable of delivering sustained, high doses of a therapeutic protein.

Scientists at Seattle Children’s Research Institute are paving the way to use gene-edited B cells – a type of white blood cell in the immune system – to treat a wide range of potential diseases that affect children, including hemophilia and other protein deficiency disorders, autoimmune diseases, and infectious diseases. If successful, their research would open the door to offering this experimental cell therapy as the first-of-its-kind in clinical trials at Seattle Children’s in as soon as five years. Read full post »

Doctor Creates Virtual Reality Simulation to Save Babies’ Lives

Trainees in Africa participate in a pilot study of a virtual reality simulation that teaches care providers how to care for a newborn unable to breathe on their own.

Wanting to do something different to address the alarmingly high number of newborn deaths in low income countries, Dr. Rachel Umoren, a neonatologist at Seattle Children’s, turned to virtual reality (VR).

As mobile phone-based VR programs became increasingly accessible, Umoren thought the emerging technology could offer a better way to equip health care providers with the skills necessary to save babies’ lives in low- and middle-income countries with high neonatal mortality rates.

Her case was compelling: with mobile VR training, providers could learn and easily maintain new skills at their own convenience, on their own smartphone, and with game-based automated feedback that is ideal for learning. With its on-demand availability, she believed mobile phone-based VR training could effectively translate into clinical practice better than current training methods.

“Mobile technologies are ubiquitous in low and middle income countries, yet they are relatively untested at disseminating health care information or training in these settings,” Umoren said. “I wanted to see how we could apply innovations in virtual reality to address the pressing issue of neonatal mortality.” Read full post »

HIV Protection for Infants May Come From Breastfeeding and the Gut

Scientists at Seattle Children’s Research Institute are investigating how an infant’s microbiome may offer protection from HIV infection. (Photo by Getty Images)

Every year, over 1.2 million people continue to be infected by HIV. Of these, about 160,000 are infants that contract the virus from their mother. Without treatment, a third of these infants die by their first birthday, and half of them do not make it to age 2.

Thanks to programs that identify and treat HIV-infected mothers and children, the number of deaths in children has decreased nearly 50% since 2010. Despite this success, HIV infections in infants remain persistent primarily because not all mothers know if they are infected or, for a variety of reasons, are unable to adhere to taking the antiretroviral medications they need to prevent transmission.

To close the gap, scientists at Seattle Children’s Research Institute are looking for new clues in an important indicator of overall infant health – a baby’s developing immune system and microbiome. Ongoing research not only examines how an infant’s microbiome can evolve to help protect against HIV infection, but also what factors, such as diet, alter an infant’s susceptibility when exposed to HIV through their mother’s breast milk. Read full post »

Smoking During Pregnancy Doubles the Risk of Sudden Unexpected Infant Death, Study Warns

A new study finds that any amount of smoking during pregnancy – even just one cigarette a day – doubles the risk of an infant dying from sudden unexpected infant death. (Photo by Getty Images)

The first findings to result from a collaboration between Seattle Children’s Research Institute and Microsoft data scientists provides expecting mothers new information about how smoking before and during pregnancy contributes to the risk of an infant dying suddenly and unexpectedly before their first birthday.

According to the study published in Pediatrics, any amount of smoking during pregnancy – even just one cigarette a day – doubles the risk of an infant dying from sudden unexpected infant death (SUID). For women who smoked an average of 1-20 cigarettes a day, the odds of SUID increased by 0.07 with each additional cigarette smoked.

“With this information, doctors can better counsel pregnant women about their smoking habits, knowing that the number of cigarettes smoked daily during pregnancy significantly impacts the risk for SUID,” said Dr. Tatiana Anderson, a researcher in Seattle Children’s Center for Integrative Brain Research and lead author on the study. “Similar to public health campaigns that educated parents about the importance of infant sleep position, leading to a 50% decrease in sudden infant death syndrome (SIDS) rates, we hope advising women about this risk will result in less babies dying from these tragic causes.”

If no women smoked during pregnancy, Anderson and her co-authors estimate that 800 of the approximately 3,700 deaths from SUID every year in the U.S. could be prevented, lowering current SUID rates by 22%. Read full post »

New Drug Trial Gives Hope for Treatment-Resistant Epilepsy

Shanahan “Shanny” Dameral, 19, recently participated in a clinical trial at Seattle Children’s investigating a new drug for children with treatment-resistant epilepsy.

For the first time in his life, Shanahan “Shanny” Dameral, 19, has a girlfriend. Soon, he’ll be graduating with a high school diploma and looking for his first job on the Kitsap Peninsula.

What seems routine for many is a big deal for Shanahan and other children living with treatment-resistant or intractable epilepsy. For reasons largely unknown, seizures in this subset of children persist long past their discovery in early childhood despite being treated with multiple medications and undergoing surgery to remove the affected parts of their brain.

Diagnosed with epilepsy at age 5, life for Shanahan has always come with seizures attached. When his seizures returned after a second brain surgery shortly after his 16th birthday, his mom Linley Allen, hoped for a medical breakthrough.

“We needed to find something else since another surgery was out of the question,” Allen said. “We had heard about a drug being studied for a more severe seizure condition. I kept holding onto hope that it might be expanded to treat Shanny’s type of seizures because it was all we had at the time.”

Then last year, Shanahan’s longtime neurologist at Seattle Children’s, Dr. Russell Saneto, told the family about a phase 1 trial of an experimental therapy known as Nab-rapamycin (ABI-009) for patients with intractable epilepsy at Seattle Children’s.

“Dr. Saneto has always pushed for better ways to treat Shanny’s seizures, and even after he explained that this trial was early in the research process, Shanny popped right up and asked, ‘When do we start?’” said Allen. “I was like, ‘Shanny, this is going to be a couple of years out,’ so we were both surprised when Dr. Saneto said, ‘No, you can start next month.’” Read full post »

Lighting the Way for Children With Brain Tumors

Danica Taylor, 3, has undergone treatment at Seattle Children’s for an aggressive, very rare type of brain tumor known as atypical teratoid rhabdoid tumor, or ATRT.

Recalling the treatments her daughter has had over the past year for an aggressive, very rare type of brain tumor known as atypical teratoid rhabdoid tumor, or ATRT, Audrey Taylor says it’s like watching a game where your favorite sports team keeps losing and then regaining the lead.

“There are so many times when you feel like you totally got this, followed by moments where you’re not really sure what’s going to happen next,” she said.

Diagnosed with ATRT at 21 months old, Danica Taylor, now 3, has endured multiple rounds of chemotherapy, stem cell transplants, two brain surgeries, laser ablation and proton beam radiation therapy to try to stop the fast-growing tumor.

Danica remained strong through it all.

“She’s just the bravest and toughest kid I know,” Taylor said. “Whenever I have to do something hard, I summon my inner Danica.” Read full post »

Secret to Sepsis May Lie in Rare Cell

Seattle Children’s researchers studying how the immune system responds to the early stages of a sepsis infection show how a rare type of immune cell called basophils (represented by dark purple) arrive at the infection site 24 hours after sepsis is induced in the lab.

In a paper published in Nature Immunology, scientists from Seattle Children’s Research Institute reveal how a rare group of white blood cells called basophils play an important role in the immune response to a bacterial infection, preventing the development of sepsis. Researchers say their findings could lead to better ways to prevent the dangerous immune response that strikes more than 30 million people worldwide every year.

“Sepsis is the number one killer of children globally, yet little is known about what goes wrong in an individual’s immune system to cause sepsis as it fights off an infection,” said Dr. Adrian Piliponsky, a principal investigator in the research institute’s Center for Immunity and Immunotherapies. “Without this information, it’s hard to predict who will develop sepsis or explain why sepsis causes a range of immune responses in different individuals.” Read full post »

Patients Share Their Top Resolutions to Ring in the New Year

With the countdown to the New Year almost here, On the Pulse caught up with a few of the patients who inspired our readers with their stories throughout 2018. Below, they offer their hopes, dreams and goals for the year to come.

A shoulder above his cancer, Miguel sets sights on giving back

Miguel Navarro, 19, is focused on the road ahead after treatment for a rare bone cancer.

In 2018, doctors built a right shoulder for Miguel Navarro, 19, after surgically removing an aggressive type of bone cancer known as osteosarcoma that threatened his life. Miguel spent most of the last semester of his senior year of high school in the hospital going through chemotherapy and intensive rehabilitation to regain the use of his right arm. Now, he’s solely focused on the road ahead – one that includes getting back to a hobby he’s passionate about – driving his stick shift car – and giving back to others.

“My goal for 2019 is to give back to the community that took care of me and supported me during my time of need,” Miguel said. “I’m blessed to be alive. Now, I want to be hope for someone else.” Read full post »