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.

Nicole’s Nook: SuperKeys App

Keyboarding is meant to be a quicker, more functional option for students, especially those who struggle with handwriting. Utilizing features such as word prediction and shortcuts can significantly reduce keystrokes, thus increasing productivity as well as overall functional academic independence. However for some, the online keyboard or even a Bluetooth wireless keyboard, may be too small to access efficiently. Fine motor skills may be challenged by the size of the icons.

Using a third party keyboard, such as SuperKeys, provides a more accessible option for typing on the iPad. It is an iOS app available in the App Store for $12.99, offering a larger keyboard, making it visually more accessible. A unique feature of this app takes the traditional 30 icons on the keyboard and puts them into 7 large cluster keys. Tap the cluster that contains the letter you want and then it enlarges that cluster.  You can then select your letter, but it is now much larger in size and view.

In addition, it has an extensive word prediction feature that displays predicted words as enlarged buttons, as well.  One-touch, customized shortcuts, can be created with phrases or full names to help reduce keystrokes.

Once you download the app from the App Store, go to SETTINGS, then KEYBOARD,  KEYBOARDS, ADD NEW KEYBOARD, and select SUPERKEYS from the list of Third Party Keyboards. When the keyboard comes up, tap the GLOBE icon to change keyboards.

To create Shortcuts, go to SETTINGS, GENERAL, KEYBOARD, TEXT REPLACEMENT, TAP + to add a new phrase or swipe left to delete one.

In the SuperKeys app itself, you can change the colors of the keyboard display to assist with vision.

This app provides many options for making keyboarding and typing a more functional mode for many students and users!

Nicole Weckherlin, OTR/L
Occupational Therapist
Team NF

NF Center Welcomes New Faculty Member

We are delighted to announce that Dr. Stephanie M. Morris has joined the faculty as an Assistant Professor in the Division of Pediatric Neurology at the Washington University School of Medicine. Dr. Morris has been caring for children and young adults with NF for the past several years, and has recently been appointed to the position of co-Director of the NF Clinical Program at St. Louis Children’s Hospital.

Dr. Morris received her pediatric neurology training at Washington University, where she served as the administrative chief resident. Following her residency, she was a clinical research fellow working with Dr. John Constantino (Chief, Child Psychiatry) and Dr. David Gutmann (Director, NF Center) to understand autism and developmental disabilities in children with NF1.

Nicole’s Nook: Summer Break!

As the school year is winding down, many students will soon find themselves with down time and unstructured days. While this may be a welcome change of pace, it is important to keep their bodies active and their minds stimulated. With summer approaching, take the opportunity for gross motor fun, sensory rich experiences and other learning activities. Be mindful of the use of technology, especially over the summer, as devices can become addicting and non-productive. Its use should be limited, as they won’t necessarily be needed to complete classroom or homework tasks.  However, when in use, provide educational options. Some app suggestions include:

  • Preschool Monkey Lunchbox
  • Endless Alphabet
  • Endless Wordplay
  • Dexteria Jr.
  • Book Creator
  • SpellBoard
  • Sentence Maker
  • Bluster
  • Everyday Mathematics apps
  • Todo Math
  • Motion Math
  • Math Bingo
  • Little Things
  • Letter Reflex
  • Point of View
  • Doodle Find
  • Rush Hour
  • Puppet Pals
  • MeeGenius
  • Stack the States
  • Stack the Countries
  • Khan Academy
  • Brain Pop Jr.

So make the most of this summer by enjoying some down time but making memories and experiencing new adventures! Technology is a powerful tool and can be so beneficial when used in the appropriate ways, amounts and time.

Nicole Weckherlin, OTR/L
Occupational Therapist
Team NF

Patient Spotlight: Lexi’s Journey with NF1

Forward Strides 4NF: Walking for awareness, Racing towards a cure!  Forward Strides 4NF is a charity that I started in 2016 in honor of two very special people who both deal with Neurofibromatosis (NF) on a daily basis – my husband, Alex, and my daughter, Lexi.

Alex was diagnosed with Neurofibromatosis type 1 (NF1) when he was in the second grade.  NF1 caused some learning difficulties that he was able to overcome with the help of some wonderful teachers at St. John’s Lutheran School. After learning of his NF1, he had a team of incredible doctors in St. Louis who monitored his condition on an annual basis. Alex had some minor surgeries to remove some of the neurofibromas on his body. He feels very fortunate that he has been able to live a normal, happy life. He has a passion for the outdoors, and enjoys hunting and fishing.

Lexi was born with a plexiform tumor on the bottom of her left foot and a leg length discrepancy. As a result, Lexi currently wears leg braces and inserts in her shoes, as well as a lift on the bottom of her right shoe. Since the age of 5 months, she has had several MRI scans and routine eye exams. She has also had an ankle surgery, where they placed a plastic implant to help with the stability of her ankle, and two staples to slow down the growth of her ankle bone.

Lexi receives both physical and speech therapy each week to help with her low muscle tone and communication skills. She is a very strong, independent four-year-old who doesn’t allow NF1 to limit her daily activities. She loves to swim, has participated in tumbling, and is currently taking dance lessons. Even with her braces and shoe lifts, she keeps up with the other children to the best of her ability.

NF1 is a worrisome genetic disorder because of the “unknown.” No one individual is the same. You don’t know what to expect. Alex has overcome minor hurdles with his NF1, but we still face hurdles with him. Education is key with any genetic disorder. Staying abreast of all the research and medical advancements going on in the NF world is very important. We are very thankful for the progress that Lexi has made overcoming some obstacles that she has faced with already. We could not have done this without Dr. Gutmann and his amazing team. Since Lexi was 10 months old, she has been seeing Dr. Gutmann annually for her exams. We have also been so fortunate to have one of the best physical therapists, Dr. Courtney Dunn, who is also a part of the NF Center team.  Since she was 18 months old, Lexi has attended the Beat NF music motor therapy program offered through the Washington University NF Center.

Trying to reach out in the St. Louis city community to see who else is affected with NF1 is challenging. In 2015, I helped organize a Great Steps 4NF walk in conjunction with NF Midwest. After raising over $16,000 for Great Steps, I decided that I wanted to help raise money that stayed here in the St. Louis community. In 2016, Forward Strides 4NF was formed. For the past 2 years, we have hosted a 2-mile family fun walk in Valley Park, MO. These events occur at the end of September each year, and 100% of our proceeds go to the Washington University NF Center.

Our walks have definitely been a huge success. We raised $19,351.00 in 2016 and $18,679.00 in 2017. We have had over 200 registered walkers both years, with over 30 volunteers. Entertainment at the event included an inflatable slide and bounce house, bubble bus, face painting, Minnie Mouse and a clown that handed out balloon animals. In addition, the participants were greeted by Fred Bird and Louie at the finish line. We also hold a raffle, which included over 120 amazing items; this proved to be a HUGE attraction that alone generated over $4,300. Lastly, local restaurants donate beverages, snacks and food for all the participants after the walk is completed.

Trying to maintain a positive outlook given the diagnosis of NF1 is sometimes hard. There is a not a day that goes by when we don’t think about the NF community. However, we don’t let NF1 control our life, we try to run it ourselves. We keep up with our weekly therapy appointments, we are always learning more about NF1, and we stay up to date about new medical advancements. Importantly, we do our best to raise money to support the outstanding research at the Washington University NF Center. We are walking for awareness every day, and racing towards finding a cure in the future.

Mark your calendars for Saturday, September 29, 2018 for the Forward Strides 4NF Walk. Join our Facebook group as well: Forward Strides 4NF to keep up with quarterly fundraising events and updates regarding the walk.

-Written by Gina Wilburn (Mom)

 

Nicole’s Nook: Educational App Review

Currently there are over 2 million apps available to download in the App Store.  As you can guess, that number is on the rise and continues to grow.  Finding an appropriate app can be a daunting and overwhelming task, and often times, it requires some research and time.

In an effort to save you a bit of that time and energy, I have created a list of some educational apps that are worth downloading!

 BrainPop  Dexteria Dots
 Khan Academy  Preschool Monkey Lunchbox
 Quizlet  Motion Math apps
 Duolingo  Math Bingo
 MeeGenius  Everyday Mathematics apps
 Toy Story 2 Readalong  Splash Math
 BookCreator  Stack the States
 Toontastic  Stack the Countries
 Puppet Pals  Bluster
 Peekaboo Barn  Sentence Maker
 Peekaboo Friends  SpellBoard
 Toca Boca apps  Little Things
 Duck Duck Moose apps  Doodle Find
 Tiggly Shapes apps  RushHour
 Endless Alphabet  Unblock Me
 Endless Wordplay  LetterReflex
 Interactive Alphabet  P.O.V. Spatial Reasoning Game
 Dexteria Jr.

So make good use of that screen time and put on some educational apps that will keep your kiddo busy, motivated and productive!

– Nicole Weckherlin, OTR/L, St. Louis Children’s Hospital Occupational Therapist – Team NF

 

 

Patient Spotlight: Jordan’s Journey with Neurofibromatosis

Jordan’s journey with Neurofibromatosis (NF) started at her 10-month check up.  Our pediatrician noticed that Jordan had over six tan birthmarks, which are referred to as “café-au-lait spots”. As a mother, of course, I noticed these since when she was born, and often wondered why she had so many of them when neither I, nor my husband, Brian, had any. The pediatrician explained that having over six birthmarks was an indication of a condition called “Neurofibromatosis”. My heart sank. As a medical professional, I knew about NF.

We were referred to St. Louis Children’s Hospital for an eye exam, because many children with NF sometimes develop Lisch nodules (tiny bumps on the iris). The eye doctor found nothing upon examination, but suggested we see another doctor who specialized in NF.  We were referred to Dr. Gutmann at the Washington University NF Center and have been under his care ever since.

At our first appointment with Dr. Gutmann, he felt that Jordan very likely had Neurofibromatosis Type 1 (NF1), but without two signs of NF1 present, an official diagnosis could not be made. We did this process annually, with everything seeming to be fine until the summer of 2009 when Jordan was 3 years old.  One day she told us that her head hurt.  My husband and I laid in bed that night wondering why.  At this point, I was pregnant with our second child.  We remembered that I had said my head hurt that day.  After talking, we decided I wouldn’t say my head hurt in front of her as a way to see if she was just mimicking me.  We also decided to see if she voluntarily complained the next day about her head.  The next day she played and acted normal.  I still had a nagging feeling that something just wasn’t right.  In the months that followed, I had a casual opportunity to consult with our pediatrician about this headache incident with Jordan.  Our pediatrician said not to worry about it unless it stopped Jordan from her normal daily activities.

As 2009 progressed, we welcomed our second daughter, Isabella, into the world.  Jordan handled this change as well as any three year old child can.  She has always loved being a big sister and caretaker.  During this time, Jordan continued to complain about her head hurting.  On two separate occasions between October 2009 and February 2010, she stopped playing and went to lie down because of a headache.  The first time this happened was during Halloween trick-or-treating.  Shortly into our fun-filled evening, Jordan said she wanted to go home because her head hurt.  This was alarming to me because no child wants to stop getting treats or playing with other children.  We called to report this to Dr. Gutmann, and he advised us to obtain an MRI of Jordan’s brain.

In March of 2010, at the age of just 3 ½, Jordan had her first of many MRIs.  As parents, we were terrified.  We didn’t know what to expect, much less how to explain the process to our sweet little girl.  We did our best, but cried as they wheeled her away.  Everyone from the nurses, anesthesiologists, and child life psychologists did a wonderful job with Jordan.  They always showed expert care and professionalism toward us.  They guided us where we should wait and how long the testing would take.

The next day, I called for results.  The MRI confirmed that Jordan did indeed have NF1.  It showed an optic nerve glioma (tumor on the optic nerve that sits behind the eye).  The glioma was the second indicator that confirmed the diagnosis.

I asked several questions.  What does this mean for Jordan? What if the glioma grows?  What do we do next?  We were told to wait for three months to repeat the eye exam and MRI.  If the glioma showed growth, or would have any effect on Jordan’s vision, her treatment would be chemotherapy.

I had to tell my husband that our child had a tumor.  Although I wanted to wait to tell him in person, he insisted to know the results over the phone.  I can still recall his emotions in the sound of his voice.  We needed to hold, hug, and support each other at that moment.  I felt helpless.  As parents, we felt devastated and heartbroken.  We grieved after hearing the results.  Our family and friends grieved along with us.  As this point, we knew who our true friends were.  They cried with us, they called, they took the time to listen and support us.

I explained to Jordan that she had a “bump” on her eye.  I explained that this was the reason she was having headaches.  I explained that the doctors had to watch her bump by having more MRIs and eye exams.

The following three months were long and hard.  I tried not to worry.  We prayed a lot.  During this time, we purchased a new home and were trying to remodel it.  My husband re-injured his back and required surgery.  We had a new baby to take care of, and Jordan was an active 3 year old. I worried that our child may have to start chemotherapy. I was overwhelmed.

Thankfully, Jordan’s next MRI showed no change.  We did this regiment every 3 months until June 2011, when we were able to move to every 6 months, as her optic glioma was stable and showed no signs of growth or change.  In June 2012, Jordan had her 8th MRI yielding yet more good news: the glioma was still stable with no growth.  Dr. Gutmann’s advice was to have another eye exam in 6 months and an MRI in one year.  Jordan has since graduated to annual eye exams only. Although I felt nervous ceasing the MRIs, they reassured me that I would know if something was “off” because Jordan was older now.

After Jordan’s diagnosis was confirmed, I started feeling like I wanted to raise awareness about NF.  I researched fundraising and started by creating a team called Team Little Buddies (Brian had always called Jordan his Little Buddy) for a local walk for NF.  We were the top fundraising team that year!  We did well raising $7,473.24 for that organization in two years.

I switched gears after learning that we could direct our fundraising efforts locally to the medical team that has been with us from the start. I wanted to host our own event.  The planning and brainstorming started (with those family and friends who stood by us when Jordan was diagnosed). I wanted to make the event a fun day for the whole family, but mainly focused on children.  After many hours of thought, the 1st Annual fuNFest was dreamed up.  The “N” in fuN and the “F” in Fest represents NF.  We also used Jordan’s name as an anagram for our slogan – Join Our Rage, Donate Against Neurofibromatosis.

FuNFest is truly a fun day filled with something for everyone to do. Some of the many things at fuNFest are bounce houses, Cow Patty Bingo, silent and live auctions, 50/50 and other raffles, a cake walk, bake sale, food, drinks, kids games, gun raffles, merchandise sales, etc.  After 7 years of successful funfests, we have raised and donated over $160,000 to Washington University NF Center to accelerate the scientific discovery of a cure for NF.  I give thanks to our community who supports us and the tireless efforts of each friend and family member that come together to make our event successful every year.  My cup truly runneth over!

Over the years, I have asked myself – what did I do to cause this to happen to Jordan?  I struggled with this for quite some time.  Through the grieving process, I questioned why this happened to our child when I didn’t drink or smoke during pregnancy.  I tried to eat healthy. I don’t understand why, but I believe all things happen for a reason.  I know we are making a difference by raising awareness about NF through our annual fuNFest event.  So many people had never heard of NF, but our community is now aware of this disorder because of Jordan’s journey.

Photo Credit: Diekemper Photography

And how is Jordan doing today?  She’s great.  She makes straight A’s at school.  Although she struggles a little in math and her balance and coordination are not always the best, overall, she is doing wonderfully.  She has the biggest heart of anyone I know.  She has such an encouraging, kind and caring nature about her.  I still worry every time Jordan has a headache, or any ache or pain.  I think this is very normal for a parent with a child with NF.  I pray for and believe a cure for NF will be discovered in Jordan’s lifetime.  Her journey with NF is unpredictable, but we pray that NF will never severely affect her.  I am so grateful to have Dr. Gutmann and his team on our side and so close to our home.  I believe in them and their efforts to find the cure for NF.

2017 FuNFest Raises Money for NF Research

On November 22, 2017, 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 money for research at the Washington University NF Center. The event includes games, bounce houses, music, a live auction, silent auction bidding, and the infamous Cow Patty Bingo.

This year’s FuNFest raised an impressive $23,799.70, which will fund research initiatives aimed at developing personalized medicine approaches for people affected by NF. The Washington University NF Center extends its heartfelt gratitude to Amanda and Brian Walk, who worked tirelessly to plan and execute 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.

Clinical Research Highlight in the NF Center

To better understand how behavioral symptoms develop in children with NF1, Dr. Stephanie Morris is leading a clinical study to measure symptoms of attention deficit, autism, and other behavioral problems in preschool-age children with NF1 aged 2.5 to 6.5 years old. Participation in this study involves the completion of three parent-reported questionnaires (completed during the annual NF clinic appointment), a single blood draw for NF1 gene testing (if clinical genetic testing has not been previously performed), and the possibility of a formal Autism diagnostic assessment for children with significant autism symptoms. Modest monetary compensation will be provided to offset the time and effort required for study participation.

All clinical studies are actively enrolling, and participation is purely voluntary. If interested in participating, please let the NF team know during your next clinical appointment.