My little brother Trevor is 13 and has NF1. In fact, so does his dad, Kenny and other members of the family. No one in the family had any idea that they had NF1 until one day when Trevor was around two years old, my mom, Kenny, and Trevor were at a restaurant. A lady came up to my mom and asked if Trevor had NF1. My mom had no idea what she was talking about. She then asked if Kenny was Trevor’s father, to which my mom replied yes. The lady said that Kenny had NF1, and that my mom should get Trevor looked at to see if he had it as well. That lady has become our guardian angel, and even though we don’t know her, we are very thankful. After that odd encounter, my mom started noticing some delays as Trevor got older. She decided to do some research and learn about NF1, curious to see if he really had it. She talked to a doctor and Trevor was diagnosed with NF1. A friend of my Mom’s did hours of research to find the Washington University Neurofibromatosis (NF) Center, which is four hours away. Trevor goes for checkups once a year at St. Louis Children’s Hospital. Because of the NF Center, we have learned so much about NF1. It’s really nice knowing that there is a place where we can go for answers and help.
Trevor playing for the Midway Vikings!
When Trevor started school, he tested borderline on his tests, and it was a struggle to get him assistance for the first couple of years. The school finally figured out a way to get him an IEP under a special medical condition, and they found ways to assist him with his struggles. Mom signed Trevor up for little league football in order to help him with hand and eye coordination, and to give him a social setting to be with the other kids. They told the coaches that he did not need to play in the games, and could sit on the sidelines. But the coaches found a way to put him in, and he’s played ever since. Trevor joined the Cub Scouts when he was in First Grade. He does all the activities, and even sells candy bars at the gas station to raise money for camp. He is an awesome salesman, and has learned several salesman skills from practicing. He crossed over to the Boy Scouts, and continues to work hard to complete activities and merit badges. It is not easy because of his learning disabilities, but he keeps working to overcome these challenges. He has gone to Rotary Camp, and absolutely loves it. Someday, he’ll go to the Boy Scouts camp at Bartle with his brother, Alex.
Trevor had some rough times, and had his share of being picked on for being different. Mom feels that being active and letting others know about NF1 will be the best for Trevor. As Alex always says, we want Trevor to be treated with kindness, and understanding. We just ask you to take some time to get to know him….he might even sell you a candy bar!
Participating in Boy Scouts helps Trevor improve his Social Skills.
Trevor is going to be in the 7th grade next year, and it’s going to be a big change for him since he will start switching classrooms in our school. The teachers have been understanding, and they have even planned ways to make it easier for him. As his older sister, I have certainly learned a lot from him. I’ve completed research and I have written papers about NF1, so that the teachers in high school have an understanding and can prepare for when they have him as a student. I love having Trevor in my life. It’s always an adventure, and watching him learn and grow has been fun. He may go about things differently (he is very literal), but he’s really smart and very curious. He loves learning and wants to become a writer someday. I believe that he will!
-Written by Katie Dempsey
Patient Spotlight: Miranda Ehrstein
Writing a profile about your child is hard. What do you say? How do you share all the little things that make your child unique and balance that with the medical difficulties that she faces? Our daughter, Miranda, was born premature and spent six (agonizing for us) weeks in the NICU. She is now 12 years old. She loves stuffed animals. She started talking at 11 months old and hasn’t stopped since. She excels in Science and enjoys swimming. Oh, and she has Neurofibromatosis Type 1 diagnosed at two years of age.
At her 9-month checkup Miranda’s pediatrician told us to “keep an eye” on a dark patch of skin on her thigh and to let him know if she developed any more spots. It might be nothing, he said, but it could be an early sign of Neurofibromatosis. We went home and instantly regretted Googling it. By 18 months, she had developed more freckles and by the age of two we had scheduled her first neurology visit. Between the café au lait spots and the Lisch nodules, we were told that Miranda most likely had NF1.
So how did our lives change? In many ways it didn’t. We were raising a spunky and highly verbal toddler who threw tantrums and didn’t like green veggies. We took her to the park where she would swing for hours if we let her. We taught her to ride a bike with training wheels. At the same time we learned to scrutinize every bump or pain – we still keep a pain log just to track things. Did she fall at the playground or was that bruise from something else? When she complained of a sore knee in Kindergarten, Miranda underwent an MRI that uncovered a plexiform neurofibroma running the length of her sciatic nerve. Life changed more at that point.
Elementary school brought its own set of challenges. Miranda had attentional difficulties and struggled socially with her peers. She started occupational therapy and physical therapy in first grade. We also began working with the school administration and counselors on a 504 plan, which was particularly frustrating as NF is not well known or understood in an educational setting, in spite of how common it is. Miranda underwent psychological testing at Children’s Hospital in part to help us better understand how NF1 was affecting her, and in part, as a tool to show the school district the kind of classroom support that she desperately needed. The 504 plan eventually transitioned to an IEP, but it is still a challenge to get teachers and school administrators to look past the highly verbal, outgoing, and enthusiastic young girl and recognize the classroom obstacles that she faces.
We have asked Miranda before how it makes her feel to have NF1. She has replied that it’s okay. If she didn’t have NF1, she wouldn’t be the same person. She wouldn’t be able to visit Children’s Therapy Services. She wouldn’t be involved in Club NF. She wouldn’t have met Dr. Gutmann. As her parents, this is both a heartbreaking and uplifting answer. We have no idea what the future holds for her health. However, we are hopeful that continued research eventually will result in new treatments. Importantly, no matter what NF1 brings to our family, we will stand beside her. We will teach her how to take care of herself and help her live the life she is meant to live. Even when that means limiting screen time and teaching her that curse words are not an appropriate way to respond when her sister is annoying her. After all, she is still a 12 year old girl who just happens to have NF1.
– Written by Steve & Deb Ehrstein
Walk Family’s FuNFest Raises Money for NF Research
On November 11, 2016, 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 an impressive $27,574.64, which will fund Gutmann Laboratory 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 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.
David H. Gutmann and Gutmann Laboratory researchers with Brian, Amanda, Jordan and Isabella Walk.
NF Center Patient Receives NF Hope Award
NF Center patient, Elana Loftspring, received the 2016 NF Hope Award in Las Vegas, NV.
Elana Loftspring was awarded the NF Hope Award at the recent NF Hope Concert in Las Vegas on October 23rd. This prestigious award is given to someone in the NF community “who has risen above their NF diagnosis to make a difference for others living with NF.”
The NF Network, in conjunction with Jeff Leibow, director/producer of the NF Hope concert, presented Elana with this distinction. Dr. David Gutmann, Washington University NF Center Director, taped congratulatory comments and greetings, which were aired at the concert.
From all of us at the Washington University NF Center, we extend our congratulations to Elana on receiving this important award.
Patient Spotlight: Garrett’s NF1
Garrett assisting another child with NF1 at the Club NF ice skating event
Our son Garrett was diagnosed with Neurofibromatosis type 1 (NF1) when he was just 5 years old. We had never heard of this disorder before, and our family was devastated. As parents, we tend to have certain dreams and expectations for our children’s lives no matter how realistic or unrealistic they may be. As I started to research this condition, I became even more scared and confused; it’s so complex and every person can be affected in such different ways.
We connected with the Washington University NF Center Clinical Program at St. Louis Children’s Hospital within a couple of months of receiving the diagnosis. Dr. Gutmann and every member of the staff there have been so kind, helpful and supportive. Our perspective began to change immediately.
We began attending the Club NF play-based therapy events, and Garrett and I have both enjoyed them so much that we try to make it to all six events throughout the year. These events are just one example of how Dr. Gutmann and his team have been so inspirational in our journey, always focused on what truly matters for our life, health and the well-being for all members of our family. Garrett has struggled with learning, balance, handwriting, speech and social skills, but he loves working on skills that are difficult for him and seeing the “NF family” at these events. He fits in there, and he has overcome many of the issues that have arisen as a result of his NF1. He struggled for years to learn how to ice skate for his love of hockey. I’m still not sure how he did it, but he plays ice hockey and loves it! He also has worked very hard in speech therapy and has discovered a love of the stage. He has performed in several small theatre productions at his school, even landing the lead role in last year’s performance of “Murder’s in the Heir”. He did a wonderful job! This year, as a freshman in high school, he is participating in the Speech and Acting club and is competing in meets all over the region. He has a terrific sense of humor, and the irony of participating in this club having been a kid who was in speech therapy most of his life has not gotten past him; go figure!
We can’t express how much gratitude we have for the Washington University NF Center Clinical Program at St. Louis Children’s Hospital and their complementary care programs for continued support in a variety of challenging situations. We are so very blessed and fortunate to be in this place. They have helped us look at all of our possibilities, and I can’t wait to see what tomorrow brings.
– Written by Peggy Dohlke, proud mother of Garrett Dohlke
Washington University NF Center Fall 2015 Newsletter
Check out the fall 2015 newsletter (pdf) for some of our most popular research articles, patient stories and details about upcoming events this fall!
Some of the highlights in this issue include:
Researchers Separate NF1/RAS Function in Brain Stem Cells
Patient Spotlight: Molly McNeill
Washington University NF Center to Hold Research Symposium
Molly McNeill is eight, and was diagnosed with NF1 four years ago. She was born with several café-a-lait spots, so we began to watch for development of a second NF symptom. Her pediatric ophthalmologist observed Lisch nodules on her irises when Molly was four, and a diagnosis of NF1 (spontaneous mutation) was confirmed by Dr. David Gutmann at the Washington University NF Center soon thereafter.
Molly loves to read, and other than some mild attention issues, hasn’t struggled much in the classroom. However, she has had both physical and occupational therapy to improve her gross and fine motor skills. One of the more obvious struggles Molly has had is in the area of balance. From a young age, walking up and down stairs and running have both been difficult for her. A physical therapist suggested dance classes to help with Molly’s balance issues, but I, as her mom, was hesitant. I didn’t want her to have a frustrating experience or stand out in a negative way because of her delays. But she was willing to try and I could see the potential benefit, so I enrolled her in a tap/ballet combination class. She’s done both styles of dance for the last four years, and we’ve tried other types of activities, as well: acrobatics, volleyball, basketball, swimming, tee ball, soccer, cheerleading, drawing/painting, pottery, piano and theatre.
Now, before you think we live in our car, I need to stress we’ve tried all these things; we don’t do them all at once! A great way to try stuff, we’ve found, is through camps and short workshops. There is a volleyball camp, for example, at a local college that lasts two days each summer, and a one-day pottery workshop Molly loves. When trying out new activities, we check local park and recreation centers, Molly’s school, other schools and colleges, and arts organizations (many classes are reasonably priced at all these places with scholarship offerings for many of them). We look for activities that target different areas, like a swimming class that helps with the development of gross motor skills, a theatre workshop for focus, and piano lessons for fine motor engagement.
If I sense a new interest is going to be a struggle, I speak privately with someone in charge before Molly tries it. I explain what NF1 is, how it can affect children, and where I could foresee some possible issues with this particular endeavor. Most people understand if I contact them well before the activity starts (not trying to catch them five minutes before class). When Molly pursues a new activity, we do a short “debriefing” after each session. We talk about what she enjoyed and went well, and what she didn’t enjoy and didn’t go well. Then we talk about our achievable goal for each session: for Molly to participate the whole time and do her best.
There are times Molly can’t do some things that others in the class can do. For example, she can’t do a cartwheel in her acrobatics class. She notices when others can do cartwheels, and sometimes it bothers her. So we think about the goal: Did she stay involved in the class the whole time? Did she try her best to learn how to do a cartwheel? Still, there are times of frustration for her. But there are also times of joy. Because Molly is small for her age, it was easier for her to do a tripod (a headstand with knees balances on the elbows) than others in the class. In theatre class, because she isn’t always socially attentive, she’s willing to throw herself fully into a character, without fear of what others think, while still learning to focus on her lines.
Not all activities stick. I think we’re probably done with tee ball and basketball. But all kids, NF1 or not, can try things and find out they’re not the right fit. Molly’s the second of four kids, and the only one in our family with NF1. But her siblings have varied interests, just like she does; one brother plays basketball and bass guitar, while another likes soccer and drums. And just like Molly, her brothers have tried multiple endeavors to find their best fits.
Participation in this myriad of pursuits has led to some positive changes in our daughter. On a social level, she feels good to be a part of a group or team and has made new friends and acquaintances. Her focus is better, because her consistent goal is to participate in and finish each session, having done her best. As she succeeds in this goal, her self-esteem increases, as does her willingness to take on other interests. On a very practical level, Molly’s balance and gross and fine motor skills are better than they were even a year ago. In fact, she was released from physical therapy, because she is now at grade-level in this area.
My husband and I are learning daily what it means to be the parents of a child with NF1, and I know our family still has much to learn. But like we do with all of our kids, we observe what we think Molly can handle, let her try what she’s willing to tackle, and work to keep our expectations reasonable for her abilities. She may miss a step or two in her tap dance routine at the yearly recital, but when her dance teacher and I cry “happy tears” together because she’s on the stage, it feels like we’re going in the right direction.
– Written by Stacy McNeill
NF1 Patient Elana Loftspring: Making a Difference
Dr. David H. Gutmann and Elana Loftspring
This isn’t the first time we are reporting about the hard work this extraordinary young woman is doing to make a difference in the lives of individuals with NF, and I doubt it will be the last. Several weeks ago, members of the Washington University NF Center had the pleasure of meeting with Elana and her parents, and hearing about her new venture to encourage donations to support NF research, outreach programs and clinical care.
Through her business, Quackncreations, Elana creates wallets made of duct tape and sells them on Etsy at $20/wallet with free shipping. Each wallet is meticulously hand-crafted and features three pouches, one zip-locked coin pouch, six card slots and a separate ID slot. Customers can choose from a wide variety of colors and patterns, ranging from houndstooth and argyle to bacon and mac n’ cheese.
The wallets are not only durable and fashionable, but they also support the NF community. Elana donates 40% of the proceeds to support work being done by the NF Network to help individuals living with NF1. Place your order today on Etsy! Many thanks to Elana and her family for continuing to support NF outreach and care!
Washington University NF Center Patient Attends Grand Rounds
David H. Gutmann, MD, PhD, Director of the Washington University Neurofibromatosis (NF) Center, presented at Neurology Grand Rounds last Friday. During his seminar, he outlined the barriers to the effective management of children with NF1-associated brain tumors. Dr. Gutmann also highlighted the exciting progress being made by his colleagues at the Washington University NF Center, and how the treatment of affected children is likely to change as a result of this groundbreaking work.
Joining Dr. Gutmann were six-year-old Ally and her father Ed. Ally has been cared for by Dr. Gutmann and a team of specialists at the St. Louis Children’s Hospital since August 2011, when Ally was found to have an optic pathway glioma. After surgery and chemotherapy, Ally’s tumor is now doing well. A busy first grader, Ally woke up early to participate in Grand Rounds. She told the faculty and trainees about a new genetically-engineered mouse she named “Cocoa” that Dr. Gutmann and his team have generated with the same inherited NF1 gene mutation as Ally has.
Ally said, “I was a little nervous about talking in front of all of those people, but it wasn’t too scary after I was done. My dad took me to Chick-fil-A afterwards, so it was worth it! I wish Cocoa could have been there, though.” Ally’s father, Ed added, “I enjoy knowing Ally’s progression is being followed so closely. I know we are in good hands with Dr. Gutmann and his team.”
–Written by Kirsten Brouillet, Team NF Coordinator
Sharon and Elana Loftspring – Raising NF1 Awareness Together
Washington University NF Center mother and daughter, Sharon and Elana Loftspring, were recently featured in the Congressionally Directed Medical Research Program’s (CDMRP) Neurofibromatosis Research Program booklet. This mother-daughter team is actively involved in raising awareness of NF1 and offering support to other families who have loved ones living with NF1. Read more about this remarkable family’s experience in their own words below:
I recently added a few pages to my daughter’s scrapbook using paper designed with lemons. The phrase “turning lemons into lemonade” fits her perfectly. Elana has NF1. She was diagnosed when she was five, and the diagnosis has had a profound effect on both her life and mine.
I have been active in the NF Network, formerly Nf, Inc., on a local level and a national level for over 10 years. A representative from the organization greeted me at our first visit to an NF clinic, and provided resources to help me educate myself about the condition. Once I became involved, I was introduced to a network of parents, like myself, who were searching for answers, advocating for their children, and seeking support. Many of those parents have become dear friends over the years—my “lemonade.”
It was through that organization that I first learned about the NFRP. I joined a group of NF, Inc. individuals who visit Capitol Hill every year to advocate for research funding for NF. I distinctly remember getting a crash course on the DoD’s CDMRP and being so impressed by their implementation. The following year, I served as a consumer reviewer of the grant proposals submitted for NF research and have continued to do so since that time. The experience has been invaluable to me—not only is the process informative about the happenings in the medical research arena, but it is rewarding to know that my opinion is valued.
In 2009, Elana’s NF specialist discovered a brain tumor during a routine MRI. I immediately connected with my NF contacts and was led to the “right” specialists for our family through the Washington University NF Center and the NF Clinical Program at St. Louis Children’s Hospital. Her surgery was a success! Although it was traumatic for Elana in many respects, she managed to turn it into something positive. She began to make personalized care packages for other children affected by NF.
Here’s how Elana describes the project in her own words: “I knew what it was like to feel alone, and it felt awful! So I put a notice on the NF Network website and received emails from parents explaining their child’s troubles. Then I would respond by asking what the child liked to do, and would use that information to pick out things for the package. I would also include a letter from myself explaining that I, too, had NF, and that they were not alone. I ended up sending roughly 100 packages across the country.”
Last summer, Elana connected again with kids who have NF by attending Camp New Friends in Virginia. She loved it! Elana describes her camp experience this way: “I met nearly 65 other people with NF. I found what I had always wanted – people like me. Although our symptoms were unique, we were all the same. I understood exactly what the campers were feeling when they talked about their MRIs and medical tests, and they understood me. It felt great!”
Our connection to the NFRP came full circle this year when Elana came with me to advocate for continued funding of NF research. We were able to hear about the great strides that scientists are making in the field of NF research, and even clinical trials, and how the NFRP is keeping up the momentum. Elana used her voice to tell her story in the hopes that these programs will continue. Elana’s diagnosis has opened our eyes to other families affected by NF, to a dedicated scientific community that is committed to working toward finding a cure, and to connections with young people who remind Elana that she is not alone in this fight. As I said, Elana has truly transformed lemons into lemonade!
For more information regarding the Department of Defense’s Office of Congressionally Directed Medical Research Program (CDMRP) and their support for NF research, please visit their website cdmrp.army.mil.