May is NF Awareness Month, join the Washington University NF Center in raising awareness, and supporting education and research, throughout the Neurofibromatosis community.
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
Few effective treatments
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…
Dress in blue in support of NF Awareness on World NF Awareness Day, May 17th, 2019!
Nicole’s Nook: Productivity Apps Update
In this month’s Nicole’s Nook, Nicole Weckherlin, St. Louis Children’s Hospital Occupational Therapist, provides an update on her favorite productivity apps. Click on the images to download PDF documents.
Nicole Weckherlin, OTR/L Occupational Therapist Team NF
The NF Center Wraps Up Another Successful Beat NF Session!
The Washington University Neurofibromatosis (NF) Center, in collaboration with our partners at Jazz St. Louis and the St. Louis Children’s Hospital Foundation, recently completed the 2019 Beat NF Spring Session. Toddler participants enjoyed five weeks of a jazz music motor therapy curriculum utilizing jazz music and physical therapy to promote social, attention, and motor skills in toddlers with NF1, while also fostering healthy parent-child interactions, peer relationships, and jazz appreciation.
Together with Jazz St. Louis education staff, the Washington University NF Center has developed this one-of-a-kind therapy program that specifically focused on frequently delayed skills in young children with NF1. During each session, local jazz musicians play live music, while the children review social engagement rules as a group, learn about a “mystery instrument”, and engage in gross and fine motor therapy. Educators and musicians from Jazz St. Louis compose and play original music expressly written for these activities. In addition, Beat NF Team members carefully design each week’s program to work on improving particular social and motor delays in toddlers with NF1.
Please join us for the Fall 2019 Beat NF Session (October-November 2019, dates to be determined). For more information about Beat NF or upcoming events, please contact us at email@example.com.
– Jennifer Traber, NF Center Coordinator
Nicole’s Nook: C-Pen Reader
In addition to the multitude of apps, extensions and built-in features that can aid in reading, there are also other stand-alone devices available. Recently I trialed the C-Pen Reader by Scanning Pens. This lightweight “pen” is slightly larger in size than a highlighter. It features optimal character recognition that scans printed text and reads it aloud. This device is especially beneficial to those who struggle with reading or comprehension, or those that use English as their second language.
While schools are progressing with technology, many are not entirely digital. For that reason, a reading pen can be a powerful device in that setting. Worksheets, paper and exams are still frequently utilized. A reading pen can allow students to work independently, scanning the text themselves. This has the potential to eliminate the need for an aide or paraprofessional, as well as reduce the amount of teacher preparation as students can access any of the printed material in class. The reading pen also can be used with earbuds or headphones, preventing any distraction to others and promoting inclusion in the general education setting.
The reader pen functions not only as a text reader, but also as a dictionary and as a recorder for quick notes or reminders. You can scan to file by connecting to a computer to allow for greater storage. Also available is the Exam Reader pen which allows students to read test questions to themselves. This pen features an exam lock to which it becomes a read-only device. It cannot access the dictionary or record. Exam Reader pens can be used for tests, even college board exams, so long as the accommodation of text-to-speech or portable speech is written in your student’s IEP.
Many of your state lending libraries feature these pens to trial to see if it may help your student. I highly recommend doing a little research to see if such a device would help your student become more efficient and independent!
Nicole Weckherlin, OTR/L Occupational Therapist Team NF
Forward Strides 4NF Committee Fundraises for the NF Center
The Forward Strides 4NF committee visited the Washington University NF Center to present a $19,000. It was the largest yearly fundraising total since their inception.
Forward Strides 4NF is a charity that was started in 2016 by Gina Wilburn to honor her daughter and husband, who both have Neurofibromatosis (NF). Each year the event has had over 200 registered walkers, with more than 30 volunteers. Entertainment at the event included a bounce house, bubble bus, face painting, food and beverages donated from local restaurants, as well as sports mascots to cheer participants at the finish line. Additionally, a raffle, which included over 120 amazing items, has proven to be a huge attraction every year.
The Washington University NF Center extends its heartfelt gratitude to Gina and the Forward Strides 4 NF committee for their continued support.
Patient Spotlight: Phillip
I’m often asked what brought us to St. Louis, since neither my husband nor I have family in the area. A promising job offer in 2000 prompted us to move from North Dakota, but it wasn’t until years later that I would come to realize our move was “meant to be” for an entirely different reason.
Our son, Phillip, was born in 2003. At his six month exam, our pediatrician noticed several birth marks on his torso, which led to a referral to Dr. David Gutmann at St. Louis Children’s Hospital. We would learn that these birthmarks were actually cafe’-au-lait spots and one indicator of Neurofibromatosis Type 1 (NF1). Phillip was five years-old when a second indicator, Lisch nodules on the iris of his eyes, was found, and the diagnosis of NF1 was confirmed. People with NF1 are at risk for developing tumors throughout their bodies. Naturally, we were scared and confused about what this meant for our child’s future.
Dr. Gutmann was wonderful, and he patiently answered our questions, as well as assured us that Phillip was capable of leading a normal, productive life. He introduced us to his team of specialists at St. Louis Children’s Hospital and the powerful network of support they provide: physical therapy, occupational therapy, speech pathology, pediatric neuropsychology, orthopedic surgery, and ophthalmologogy– a group of talented and caring professionals that we’ve utilized over the years.
Another support that has been beneficial to our family is Club NF, offered through the Washington University NF Center. Phillip was six years old when we first attended a Club NF activity, and he loved it immediately. As he’s grown older, these free activities have allowed him to learn and practice social and motor skills by swimming, ice-skating, cooking, playing chess, dancing, painting, wall-climbing, animal encounters at the zoo, learning about dinosaur digs at the Science Center, and even yoga surfing! While the kids play and interact, parents have the opportunity to hear from various speakers and enjoy making friendships, as well. Questions from parents may vary from educational (IEP, 504, technology), emotional, social, and behavioral, and the Washington University NF Center staff does a fantastic job finding the right speakers to address these concerns.
Fast forward to 2019 . . . Phillip is now 15 and a typical teenager with his driver’s permit, cell phone, and love of gaming. A sophomore in high school, he’s an honor student, enjoys golf and weight conditioning, plays piano, and works to perfect his German. NF1 does not limit him. He now participates in Teen NF, which provides a friendship group that understands and accepts him because they are going through the same journey. Knowing that there are other teens with NF1 has helped him be comfortable with his diagnosis. He now enjoys volunteering at Club NF and taking on a mentor role for the younger kids.
I do believe our move to St. Louis was “meant to be” and we were guided here to have access to St. Louis Children’s Hospital and Dr. Gutmann and his team of specialists at the NF Clinic. We will be forever thankful for the dedication and compassion they show for their NF patients and continued research.
– written by Suzy Effertz
Olivia Cobb joins the Gutmann Laboratory
Olivia Cobb recently joined the research laboratory of NF Center Director, David H. Gutmann, MD, PhD, as a graduate student research assistant. Olivia received her Bachelors in Liberal Arts from Thomas Aquinas College in California in Philosophy and Theology prior to pursuing a Master’s Degree in Biostatistics at Washington University in St. Louis.
Matching her love of science, math, and philosophy with a desire to use her skills in the field of medicine, she started working in the NF Center in September 2018. Ms. Cobb has been employing bioinformatic analysis approaches to understanding the medical problems facing children and adults with NF1.
Missouri Legislators Visit the Washington University NF Center
A delegation of Missouri legislators toured St. Louis Children’s Hospital to learn more about the integral relationship between Washington University and the Barnes-Jewish-Christian (BJC) Health Care System. These state representatives heard presentations about innovative research being conducted at the Washington University School of Medicine, and how this benefits children and families in Missouri.
The Washington University NF Center was chosen as one of the highlighted programs for this tour. Dr. David Gutmann spoke about how research in the NF Center informs better care of children and adults with NF1. He demonstrated how research and clinical care are inseparable, emphasizing that the treatments of tomorrow will come from research being conducted today.
We thank Ellie Glenn for her tireless efforts to support the important science that aims to change the way we care for children with NF and other pediatric conditions.
Message from the Director
In 2018, as we celebrate 25 years of Neurofibromatosis research and clinical care at Washington University, Neurofibromatosis (NF) Center research and clinical members have continued to expand investigative initiatives aimed at developing personalized medical approaches for people affected with NF. We are grateful for the continued partnership with our families that make these high-risk, high-payoff ventures possible.
ADVANCING NF RESEARCH
It has been another year of progress in our understanding of neurofibromatosis, with numerous researchers in the Washington University NF Center publishing important new discoveries. These include advances in our understanding of the contribution of immune system cells to brain tumor growth, discovering a correlation between the location of the NF1 gene mutation and autism, identifying a new marker for malignant peripheral nerve sheath tumors, and studying autism behaviors in mice engineered with Nf1 gene mutations. In addition, two of our Pediatric Neurology residents completed the largest study of MRI scans in children with NF1, demonstrating that brain tumors are more frequently detected than previously appreciated. Moreover, we have forged new collaborations with our colleagues in the Institute for Informatics and the Intellectual and Developmental Disabilities Research Center at Washington University, as well as expanded our international efforts with Professor Helmut Kettenmann at the Max Delbrück Center in Berlin. We also continue to enlarge our unique collection of resources essential to making these advances, including the NF1 Genome Project used to discover subtle DNA changes that might one day serve to predict the risk of developing specific medical problems in people with NF1.
RAISING NF AWARENESS
September 5, 2018 marked the 4th biennial Washington University NF Center Symposium. Highlighted by two internationally-renown keynote speakers, Dr. Frank McCormick and Dr. Eric Legius, numerous NF Center investigators presented advances in NF research and clinical care.
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.
The Walk Family Hosts FuNFest to Raise Money for NF Research
On November 21, 2018, Brian and Amanda Walk and their daughters, Jordan and Bella, visited the Washington University NF Center to celebrate another successful fuNFest event.
FuNFest is a family-friendly festival designed to create awareness about NF and to raise funds for NF research. The event includes games, bounce houses, music, a live auction, silent auction bidding, and the infamous Cow Patty Bingo.
This year’s fuNFest raised over $18,000, which will fund laboratory research initiatives aimed at developing personalized medicine approaches for people with NF1. The Washington University NF Center extends its heartfelt gratitude to Amanda and Brain Walk, who worked tirelessly to plan this event.
Our patients and their families are an integral part of our mission to provide exceptional care through groundbreaking research. Because of families like the Walks, we are able to conduct cutting-edge research and provide outstanding complementary care resources.