NF Center 2020, Volume 2 Newsletter Published

Check out the NF Center 2020, Volume 2 newsletter (pdf) to read about new research on NF1 brain tumors and human brain cells, learn about a new therapy treatment for children with NF1, and read updates on patient engagement.

Additionally, learn about:

  • The Advocate of Hope Award honoring Dr. Gutmann
  • Our newest Patient Spotlight article

If you haven’t already done so, be sure to also take a look at our previous issues of the NF Center newsletter for additional NF-related research updates and patient spotlights!

Patient Spotlight: Daniel

At six months of age, Daniel Crum was brought to the Washington University NF Clinical Program at St. Louis Children’s Hospital and received a diagnosis of Neurofibromatosis type 1 (NF1). Although both his father and grandfather had signs of NF1, they had gone without a formal diagnosis, and the news came as a shock. The Crum family immediately rallied around Daniel, and began seeing NF specialist, Dr. David H. Gutmann, every six months.

At two and half, Daniel’s parents noticed that he had a lazy eye – it was then that he was diagnosed with a brain tumor called an optic pathway gliomas (OPG). Through many years of chemotherapy and incredible difficulties, Daniel stayed strong, upbeat, and playful. His parents love that he never stopped playing and loving basketball, even in the midst of his treatments. At nine years old, his tumor stopped growing, reducing Daniel’s NF checkups to once a year. Although this was an indescribably difficult time for Daniel and his family, they made it through with their faith and the support of their community. They now try to help everyone they meet better understand NF1 and those who struggle with it.

In spite of his diagnosis, Daniel thrived in middle and high school. Capitalizing on his love of sports, Daniel became involved in his school’s basketball, football and golf teams. Even though his vision was severely impaired, Daniel played golf for all four years of high school, winning an award for being the first blind student to do so. By the time he graduated, he had won two more awards – he was presented with the Rosemary Zander Award for his ability to go above and beyond what was expected of him, and his class of 2013 began a new award in his name, honoring his dedication and strength, called the Crum Perseverance Award.

After graduation, Daniel brought that love of sportsmanship and athletics to his current job at the Enterprise Center. There, he works in Press Dining to feed the numerous reporters, sports writers, cameramen, and retired athletes who come through the center.

Now 24 years old, Daniel absolutely loves his job and excels at every aspect of it. He gets to know each of his customers on a first name basis, and frequently works in other departments when they need extra help. Recently, Daniel got to see and touch the Stanley Cup at an event for season ticket holders, which was incredibly exciting. His parents are so proud of everything he has accomplished, most importantly, his perseverance and fortitude in pursuing his dreams.

May is NF Awareness Month!

May is NF Awareness Month, join the Washington University NF Center in raising awareness, and supporting education and research, throughout the Neurofibromatosis community.

Dress in blue in support of
NF Awareness on
World NF Awareness Day,
May 17th, 2020!

FACTS ABOUT NEUROFIBROMATOSIS

  • A set of complex genetic disorders that affects almost every organ system
  • NF1 affects one of every 3,000 births
  • Occurs worldwide, and in both sexes, as well as all races and ethnic groups

In the Washington University Neurofibromatosis (NF) Center, clinicians and laboratory scientists work together to accelerate the pace of scientific discovery and its application to the care of individuals with NF.

To learn more visit our other web pages…

 

Gutmann Receives Advocate of Hope Award

Honored for dedication to finding causes, treatments for common genetic disease

David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor and vice chair for research affairs in the Department of Neurology at Washington University School of Medicine in St. Louis, has received the Advocate of Hope Award from the national Neurofibromatosis (NF) Network.

The NF Network is a nonprofit dedicated to helping people living with NF, a set of complex genetic disorders of the nervous system that is characterized by tumors that can grow on nerves in the brain and throughout the body.

The Advocate of Hope Award honors Gutmann for his work in the field of NF and his compassion for NF patients. For more than 25 years, he has devoted his academic career to improving the lives of people with NF, through laboratory and clinical research. He established the NF clinical program at St. Louis Children’s Hospital in 1994, which serves as a regional referral center for patients. In addition, he founded and directs the Washington University NF Center, one of the world’s largest centers focused on accelerating the pace of scientific discovery and its application to the care of individuals with NF.

Written by Tamara Bhandari, Washington University School of Medicine, Senior Medical Science Writer.
This article originally appeared in the Washington University School of Medicine News Hub on May 4, 2020.

FDA Approves First Therapy for Children with NF1

On April 10, 2020, the US Food and Drug Administration (FDA) approved the drug selumentinib (Koselugo) for people with Neurofibromatosis Type 1 (NF1) who are 2 years of age and older. The first of its kind drug will be used to treat symptomatic, inoperable plexiform neurofibromas. These tumors are often detected in young children, and may involve the eye socket, face, arm, leg, back, chest, or abdomen.

The FDA approval came after a clinical trial conducted by the National Cancer Institute showed that nearly two thirds of patients had a positive response to the drug, with at least a 20% reduction in tumor volume. Of these patients, most had responses that lasted 12 months or longer. However, no patients experienced complete disappearance of their tumor.

“These are exciting times for families affected with NF1”, says NF Center Director, David H. Gutmann, MD, PhD. “This success is the result of decades of hard work by scientists, physicians, nurses, and patient advocacy groups.”

Give STL Day for NF is May 7th

Donate

On Thursday, May 7, 2020, the St. Louis Community Foundation will host its annual Give STL Day, a 24-hour online giving event designed to grow philanthropy in the St. Louis metropolitan area. The goal is to inspire the community to come together for 24 hours to contribute as many charitable dollars as possible to support the work of local nonprofit organizations. This is exceptionally important during the current COVID-19 pandemic.

The early donation period has already begun.  Please click here to help support the Washington University NF Center in our mission to provide exceptional care through groundbreaking research.

 

A Message of Hope from the Director

Dear NF Community, Family and Friends,

We are living in unprecedented times. We are being asked to limit our social interactions to reduce the spread of a potentially deadly virus. We are all scared, worried, and understandably panicked.

However, unusual circumstances call for extraordinary acts of courage, grace, and kindness. As we physically distance ourselves from one another, let’s make sure that we grow closer together as a community. By thinking of others when we are feeling the most vulnerable, we are strengthening the ties that bind us. If we do the right thing during the weeks ahead, we will undoubtedly emerge from this crisis stronger.

David H. Gutmann, MD, PhD, FAAN
Donald O. Schnuck Family Professor
Director, Washington University NF Center

NF Center 2020, Volume 1 Newsletter Published

Check out the NF Center 2020, Volume 1 newsletter (pdf) to read about new research on NF1 brain tumors, learn about our new NF Center faculty member, read updates on patient engagement, and learn about our upcoming complementary care program events.

Additionally, learn about:

  • Unique presentation of NF2 in young children
  • Updates from Courtney’s Corner

If you haven’t already done so, be sure to also take a look at our previous issues of the NF Center newsletter for additional NF-related research updates and patient spotlights!

Courtney’s Corner: Learning to Ride a Bike

Soon the weather will start to warm up and Spring will be right around the corner! That means it’s time to start thinking about outdoor activities like riding bikes.

Learning to ride a bike can be challenging for any child, but it might be especially frustrating for children with NF1. Children with NF1 tend to experience developmental delays in some of the key skills necessary for riding a bike such as balance and coordination. While this can make learning to ride a bike difficult, it also makes it all the more important! Not only is riding a bike great exercise, but it also teaches balance and coordination. The more your child practices these skills, the more capable he or she will be of balancing and being coordinated in every day life.

Here are some steps to make learning to ride a bike stress free and fun:

1. Start your child on a tricycle. The skills necessary to ride a trike should emerge between the ages of three and four. If you start your child out young, it will make it easier to learn bike skills in the future.

2. Once your child outgrows the trike, try a low to the ground bike. Most children will feel more comfortable if they can easily reach the ground.

3. Once your child feels ready, focus on teaching him or her how to balance rather than how to move (pedaling). Balance is the primary issue, and pedaling will come with time. To teach balance, skip training wheels and bike down a hill (not too steep!). When your child does both these things, he or she will more readily understand what it feels like to balance on a bike.

If you follow these steps, learning to ride a bike should be a positive experience, but remember, the key may be lots of practice! If your child does not master bike riding on the first attempt, do not give up. Completing multiple short sessions several days in a row may reduce expectations and keep to process fun and stress free for you and your child.

Courtney Dunn, PT, DPT

 

 

 

 

Message from the Director

It has been another exciting and productive year of advances in research and clinical care at the Washington University Neurofibromatosis (NF) Center. Our clinical and laboratory investigators continue to expand their research initiatives aimed at developing personalized medical approaches for people affected with NF. In addition, we are so grateful for the ongoing partnerships with our families that make these high-risk, high-payoff ventures possible.

INTRODUCING NEW MEMBERS
We are delighted to share the news that Mrs. Erika Ramirez was promoted to full-time Clinical Nurse Coordinator of the NF Clinical Program at St. Louis Children’s Hospital. Erika previously worked with Drs. Stephanie Morris and David Gutmann as a part-time nurse for our families, but has recently expanded her role to facilitate specialty scheduling and coordinate patient care planning, thus serving as a critical liaison for our families. In addition, Dr. Nicole M. Brossier was promoted to Instructor in the Division of Pediatric Hematology/Oncology. While she is currently completing her postdoctoral fellowship training in my laboratory, she will be taking a leadership role in the management of children with NF-related brain tumors.Lastly, we have recently welcomed Dr. Amy E. Armstrong to our management team. Dr. Armstrong completed her training in Pediatric and Pediatric Hematology/Oncology at Lurie Children’s Hospital (Northwestern University) with Dr. Robert Listernick and Riley Children’s Hospital (Indiana University) with Dr. Wade Clapp. She brings her expertise in NF1 plexiform neurofibroma clinical trials to St. Louis Children’s Hospital.

ADVANCING NF RESEARCH
It has been another year of progress in our understanding of neurofibromatosis, with scientists and clinicians in the Washington University NF Center publishing important new discoveries. These include studies defining how immune system cells control optic glioma growth in mice, developing a mouse model for sleep disturbances in NF1, identifying new genetic markers for brain immune system cells, and characterizing optic gliomas in a pig model of NF1. In addition, one of our Pediatric Neurology residents (Dr. Cristina Gaudioso) completed a large multi-center study of NF2 in children younger than ten years of age. Moreover, we have expanded ongoing collaborations with our colleagues in the Institute for Informatics (Drs. Philip Payne, Randi Foraker, and Aditi Gupta) and the Intellectual Developmental Disabilities Research Center at Washington University (Drs. John Constantino, Susan Maloney, and Kristen Kroll), as well as fortified our international research studies with Professor Helmut Kettenmann at the Max Delbrück Center in Berlin. We also continue to recruit families to participate in clinical research (NF1 Genome Project, NF1 Stem Cell Repository, and Longitudinal NF1 Autism Study), which aim to improve our ability to predict the risk of developing specific medical problems in people with NF1 (precision medicine).

RAISING NF AWARENESS
In addition, Washington University NF Center neuroscientists participated in CAMP NEURO, a program designed to educate and expose high school students to medical research. Visitors to the NF Center learned how laboratory studies have advanced our understanding of the health problems affecting children and adults with NF1. Following the tour, one student from the group was inspired to become a neuroscientist, and contacted us about working in one of our laboratories next summer.

David H. Gutmann, MD, PhD, FAAN
Donald O. Schnuck Family Professor
Director, Washington University NF Center
Vice Chair for Research Affairs, Neurology