Provider Q&A

In Part 1 of our Epilepsy Q&A, Dr. Jay Hauptman discussed advances in neurosurgery and the many new options available for children with intractable epilepsy. In Part 2, we hear from Dr. Hauptman and Dr. Ghayda Mirzaa about the genetics of epilepsy and how research is leading to new nonsurgical treatment options.

Dr. Mirzaa is a Seattle Children’s clinical and molecular geneticist at the Center for Integrative Brain Research and Seattle Children’s Epilepsy Program. Dr. Hauptman is a neurosurgeon with Seattle Children’s Epilepsy Program.

Q: What do we know about the role of genetics in epilepsy?

DR. HAUPTMAN: We know genetics contribute significantly to many types of epilepsy. Roughly a third of cases have an underlying genetic cause. We are still learning how and why genetic mutations cause epilepsy in kids.

Q: What is the focus of recent research?

DR. MIRZAA: We’ve made great progress in the last few years, at Seattle Children’s Center for Integrative Brain Research and elsewhere. Our Seattle Children’s team has traced focal cortical dysplasia, which is among the leading causes of intractable epilepsy, to mutations in a family of genes that control important pathways, such as the mammalian target of rapamycin (mTOR) pathway. Now we are exploring if drugs that are known to inhibit this pathway, which are already being used or tested to treat cancer, can be effective for epilepsy too.

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Robin Glass is an occupational therapist and lactation consultant at Seattle Children’s with over 40 years of experience. She also holds a clinical faculty appointment in the Occupational Therapy Program at the Department of Rehabilitation Medicine at the University of Washington. In addition to her patient care on the Infant Team serving inpatient and outpatient infants <1 year old, she is a national and international speaker on infant feeding and swallowing. She has numerous publications, including the seminal book Feeding and Swallowing Disorders in Infancy: Assessment and Management with co-author Lynn Wolf. She was a 2015 recipient of the National Association of Neonatal Therapists Pioneer award and received the 2018 Dr. Nancy Danoff Spirit of Service award from the Breastfeeding Coalition of Washington and Nutrition First.

Primary care providers (PCPs) frequently encounter questions from parents regarding their infants’ feeding. PCPs also observe issues with growth that may result from feeding difficulties. In a brief office visit, providers may find it challenging to identify infant feeding and swallowing disorders. In this article, Seattle Children’s occupational therapist and lactation consultant Robin Glass addresses common concerns PCPs might see related to infant feeding and swallowing difficulties and describes methods of evaluation and treatment. She also offers guidance on referring to a Seattle Children’s specialist.

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In Part 1 of our Epilepsy Q&A, we asked neurosurgeon Dr. Jay Hauptman how brain surgery for epilepsy has evolved in recent years and why major brain surgery for infant Jiana was his first choice for treating her epilepsy. In Part 2 next month we will hear from Dr. Hauptman and Dr. Ghayda Mirzaa about how patients are benefitting from new treatments derived from genetic research underway at Seattle Children’s and the Center for Integrative Brain Research.

“The brain surgery of today is completely different than the brain surgery of 20 years ago. And our understanding of epilepsy is completely different than it was 20 years ago. And because of that, our treatments have become so much better, so much more tailored and so much more effective.” – Dr. Jay Hauptman

Q: Can you explain why a more significant surgery on a young child with epilepsy may be a better approach than a more conservative surgery?

There are a lot of things that we have learned in the last 20 years that have taught us that being aggressive, going for cure, is perhaps the most important thing in the management of epilepsy in children. We know from studies that were done quite some time ago that when children are on two antiseizure medicines — it doesn’t even matter which two those are, they can be the oldest ones that we have in history of epilepsy medicines or the newest ones that just came out of a clinical trial in the last year — and they continue to have seizures, the likelihood of a third or a fourth medicine ending their epilepsy is near zero, less than 5%. Read full post »

Maternal-fetal surgeons Drs. Bettina Paek and Martin Walker review a patient’s scan.

Last year, Seattle Children’s brought on board renowned fetal intervention specialists Drs. Bettina Paek and Martin Walker to lead Seattle Children’s and UW Medicine’s new Maternal Fetal Intervention and Surgery program alongside Dr. Rebecca Stark. As members of the Fetal Care and Treatment Center at Seattle Children’s, they are part of a multi-disciplinary team that offers fetal diagnosis and treatment and helps parents understand what to expect after their child is born. The team includes more than four dozen specialists in maternal-fetal medicine, neonatology, cardiology, urology, nephrology, neurology, otolaryngology, craniofacial, surgery, genetics, and radiology.

Over the last year, the Center performed 2,449 fetal echocardiograms across the WAMI region, more than any other provider group in the Pacific NW, with more than 99% accuracy of prenatal diagnosis of major heart conditions. Drs. Paek and Walker performed 34 laser ablation procedures for twin-to-twin transfusion syndrome (TTTS) at the University of Washington Medical Center Montlake Campus (UWMC), with dual survival for more than 90% of the procedures (compared to a national average of 60%).

Pediatric cardiologist Dr. Bhawna Arya, director of Fetal Diagnosis, reviews a scan with a patient.

Our Congenital Diaphragmatic Hernia Program (CDH) team, led by Dr. Rebecca Stark, diagnosed 16 babies with CDH who required newborn surgery and achieved over a 90% average survival rate, again significantly higher than the national average.

We spoke with Drs. Walker and Dr. Paek, as well as with Dr. Bhawna Arya, who leads Seattle Children’s fetal diagnosis program with Dr. Edith Cheng and fetal cardiology, to hear about what is coming in 2023 and answer questions commonly asked by community providers.

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Todd Michael Cooper, DO

Dr. Todd Cooper is Section Chief of Oncology, Director of the Pediatric Leukemia/Lymphoma Program and Co-Director of the High-Risk Leukemia Program at Seattle Children’s. The High-Risk Leukemia Program at Seattle Children’s started in 2018 under the leadership of Dr. Cooper and Dr. Marie Bleakley, Director of Cellular Therapy and Transplantation for Pediatric Leukemia at Fred Hutchinson Cancer Center.

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Dr. Pamela Valentino

Dr. Valentino is Medical Director of the Liver Transplantation Program, and Liver & Intestinal Failure Clinical Center Director. She joined Seattle Children’s in March 2022.

Q: What is neonatal cholestasis and why is early detection important? 

Neonatal cholestasis is a condition that occurs in babies within the first few weeks of life where bile flow from the liver is disrupted. While neonatal jaundice is common, conjugated hyperbilirubinemia is infrequent but can indicate a severe underlying problem such as biliary atresia. A timely diagnosis helps us provide the surgical management that can prevent the need for liver transplantation. Unfortunately, we estimate that half or more of all babies in the PNW with cholestasis aren’t diagnosed in a timely manner. 

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Dr. André Dick

Dr. André Dick is Seattle Children’s senior vice president and surgeon-in-chief and serves as surgical director of the pediatric kidney transplant program. Dr. Dick became Seattle Children’s interim senior vice president and surgeon-in-chief in May 2021, then assumed the role permanently in March 2022. He’s a transplant surgeon but also a natural leader with big goals to address social determinants of health and provide equitable access for all our patients. He strives to be a beacon for those who are underrepresented in surgical and leadership roles.

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Dr. Lockrow is a neurologist at Seattle Children’s and will be a presenter at the Epilepsy Symposium at Seattle Children’s on September 17, 2022.

Q: What is dietary therapy for epilepsy?

Epilepsy diets are medical treatment used to control seizures. Epilepsy diets are high in fat, adequate in protein and low in carbohydrates. There are many versions of epilepsy diets, though nearly all involve shifting the main source of energy for the brain away from carbohydrates and towards ketones mimicking the fasting metabolic response.

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June Is Congenital Adrenal Hyperplasia (CAH) Month

Dr. Fechner is the medical director of the Seattle Children’s CAH Center of Excellence, a Level 1 Comprehensive Care Center for CAH designated by the CARES Foundation. She is also the Washington State Department of Health Newborn Screening Program pediatric endocrinology consultant.

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Seattle Children’s Gender Clinic now offers an e-consult service that allows providers to submit nonurgent patient-specific questions via Epic and receive a response from a Gender Clinic provider within three days. There is no charge. Dr. Gina Sequeira answers questions about what kinds of questions PCPs are asking and how to use the service.

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