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.

 

Nicole’s Nook: iPad Cases and Accessories

In this month’s blog, I thought it would be worthwhile to revisit the many iPad cases and accessories out there.

If you are looking for durability and protection, especially for those younger users or those who tend to be a little tougher on devices, some recommendations include:

If you are looking for something more portable, as well as a keyboard, options include:

Some other helpful iPad accessories:

  • Apple Camera Adapter: imports photos and videos from a digital camera using the USB cable
  • Apple Digital AV Adapter: mirrors whatever is on your iPad on your HDTV or HDMI-compatible display in up to 1080p HD
  • Apple VGA Adapter: mirrors whatever is on your iPad on your VGA-equipped TV, display, projector or other compatible display
  • Modular Hose: tablet holders and mounting systems
    • Mount the iPad to a wheelchair, stander, desk, table or other equipment
  • Scanjig: document scanning stand
    • This is especially helpful for those students using the SnapType Pro app to take a picture of their worksheets for school.

So protect and maximize that iPad and find the case and accessory that best suits your needs and use!

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

Patient Spotlight: Alexandra Schroeder

My introduction to the world of Neurofibromatosis began when I was only three years old. It started with a bug bite on my neck and fevers. This was in 1998, and at that time, not a lot was known about NF. On a visit to our local pediatrician, he could not explain the fevers that I was experiencing at night. Also, on further examination while looking at my back, they noticed that it appeared to be curving to one side. After a CAT scan, he decided to send me to the “big guns” St. Louis Children’s Hospital. After a CAT scan and an MRI, the doctors discovered a tumor in my back. They then performed surgery to try to remove the tumor. At this point, I was diagnosed with Neuroblastoma—a childhood cancer with a survival rate of 50%. As a result of this diagnosis, I stayed on the oncology floor for five days. At this time in my early life, Batman was my hero, so I had a Batman doll at my side at all times, through the various tests and even surgeries.
After the fifth day, before I was to begin chemotherapy, a young doctor entered my hospital room with tears in her eyes, and told us that I did not have Neuroblastoma, but rather something called Neurofibromatosis Type 1 (NF1). Soon after this diagnosis and more tests, I was introduced to Dr. David Gutmann, who over the past eighteen years, has always been there for us whenever we had any questions or concerns regarding NF1.

I ended up developing severe scoliosis as a result of the neurofibroma in my back. It was necessary to have instrumentation, or rods, put into my spine, which was followed by six months of wearing a hot, plastic brace. The upside to that, was that my brace was decorated with kitties, which was very important to a three-year-old girl. That is what we did—making the most of each situation. Each new challenge always looked like a new adventure.

After all of that, I had one more challenge. More surgery faced me in the fall of my sixth grade year. The curvature of my spine had become more severe, so I went through six weeks of traction. I was in the good hands of a world-renowned orthopedic surgeon at St. Louis Children’s Hospital. My mother and I had a seven week stay in the hospital and to say the least, we made the most of it. To begin with, I had a halo put into place for traction, and it was decorated with the most beautiful rhinestones. My stay was during the month of October, so my hospital room was decorated for Halloween, which allowed us to go on many “journeys” throughout the hospital. The last night before my six-hour surgery just happened to be Halloween, and in the spirit of St. Louis Children’s Hospital, there was trick-or-treating and fun Halloween festivities to take our minds off where we were heading. Oh, and I dressed up as a leopard with great face paint. The next day began with a six-hour surgery, now the fun was over, but it was worth it, because the traction had made me straighter and a few inches taller.

Fast forward a few years. I have always had big dreams, so when I was in high school, I really wanted to attend the University of Illinois to study graphic design. Throughout high school, I was in love with biology, music, and the arts. Those were the classes that I exceled in, but I had always had problems with mathematics (I had found out later that could be caused by NF1), which sometimes did make high school a little difficult for me. I was always worried that I wasn’t good enough to get into so a prestigious school, but through hard work and dedication, I made it, and entered The University of Illinois as a freshman in the fall of 2014.

The University of Illinois has provided me with some of the best times of my life. I am taking design classes to prepare me for my future career, and have joined various clubs and a sorority on campus. In addition, I cheer for my school in sporting events until my voice gives out. I can’t begin to count the number of amazing people that I have met and I am continuing to meet.
Halfway through my college career, I became more curious about NF1 and what it could have in store for me. I remember one night after I researched it for hours, I learned so many things about the condition I have had my entire life. Why or how I would do things and why I looked the way I did, and also why I had gone through so many of those tribulations as a kid.

NF1 has made me a very strong person, and continually makes me stronger every day. I will never let it stop me from doing the things that I love. During my junior year, I decided to combine my interest in graphic design with a deep passion for medicine. I’m not sure if that stemmed from being in and out of the hospital as a kid or from reading countless National Geographic magazines. After researching potential career options in medicine and graphic design, I stumbled upon The Association of Medical Illustrators website. These are the people who design all of those colorful pictures in your biology or anatomy book. This is exactly what I want to do with my life.

In the summer of 2017, I was awarded an internship as a graphic designer at the Washington University Neurofibromatosis Center, where I have been creating medical illustrations. I am so appreciative for this opportunity. A big thank you to Dr. Gutmann and his staff. This internship has provided me with an amazing opportunity to have a taste of what my dream job would look like.

Written by Alexandra Schroeder

Please check out Alexandra’s wonderful illustrations as they are posted on the Gutmann Laboratory website this fall (gutmannlab.wustl.edu).

Patient Spotlight: Emily Medlock

Growing up with seven siblings, none of whom had NF1 was tough. You see, when I was an infant, I was diagnosed with NF1, a disease my mom knew nothing about. She learned quickly after our general doctor recommended us to Dr. Gutmann and Washington University who specializes in NF1.

You can imagine how frightened my mom and siblings were when they were initially told by our local physician what it was. That I would likely not be able to walk, that I would be blind, that I would be mentally handicapped, that I likely wouldn’t live to be an adolescent, and that the tumors I had may grow cancerous. This is devastating news to any parent. For me, as I grew older, I didn’t even think about these things. I somehow knew that none of these extreme effects would ever reach me. So, there were tumors wrapped around my organs and spine, big deal. I was naïve, yes, but had more faith than most – a faith that was necessary for me to live a semi-normal childhood with my amazing family and more than supportive mom.

As hard as my family tried to make my life normal; however, the outside world wouldn’t always allow that. I was stared at, alienated, and forced to define myself simply by my NF. It took years and years for me to get past this. As a child, I would spend hours on the internet, looking for hope. I would try to find someone that had become an adult, gotten married, was loved, and lived a normal life.

I knew that I wouldn’t have any serious problems, yet my mom still worried.  We continued to make the five hour trek to see Dr. Gutmann at St. Louis Children’s Hospital a couple times a year. Still, I had one major difficulty: I had this tumor growing on my neck. I spent my teenage years trying to cover it up with clothing and my hair.

Little did I know that the straight A’s I got in school were significant. Little did I know that the fact that I loved English and Creative Writing would be so important. Little did I know that celebrating my 16th, 18th, and 21st birthdays were such amazing feats.

As I got older and wiser, I realized something else very important. My NF didn’t define me. I wasn’t my disease. I believe that this mindset all started when I wrote a book called Letting Go. It launched my career and helped me learn who I was. For the first time since I was a young child I felt that I opened up and didn’t hold back. I was me. It took writing to find out who I even was.

Since then, I’ve written Book Two, yet to be published. But these days, I have little time to write novels, as I work full-time as a freelance writer online. My site Emily Medlock was launched in 2017, where I am hirable for almost any writing need. I make a decent living writing today for gaming sites, YouTube channels, viral sites like TheRichest, and more.

I’ve also met a really awesome man who I will be marrying in 2018. He’s one of the best things that has ever happened to me. I found myself before finding him, but since finding him, I’ve learned even more about accepting myself than I thought possible. That’s one of the best things about a good relationship. You become more and more of yourself every day. You don’t change, you become better. The same could be said for a good career.

More than anything, as far as NF is concerned, I want to be a ray of hope for young people struggling to accept themselves. Young people who want to know that they can grow up to have a normal life full of love, prosperity, and success. And young people, you know what? Do not settle for anything! You’ll find a career where you flourish. You will find a man/woman that will treat you like a king/queen. There’s just one rule: be yourself and don’t be scared!

Bravelets™ on Sale Today Only!

Bravelets™ is having a one day sale today, April 2, 2014! Use the coupon code lightblue2014 to receive 10% off a cuff bracelet.

With each item purchased, $10 is donated to the Washington University NF Center in support of the outstanding research and educational resources provided by the Washington University NF Center daily.

Thank you for your support and remember to be brave.