NF Champions

Meet some of our NF Champions, adults and children living with neurofibromatosis.

Hi, my name is Rhianna. I’m 30 years old and was diagnosed with neurofibromatosis type 2 when I was 20. I am the only one in my family who has NF and I guess I could call myself a unicorn. At the beginning, when I was newly diagnosed, I was terrified. I cried for what felt like forever. I was confused and scared.

I started going to the NF Clinic at MGH and have been seeing Dr. Plotkin there ever since. My hearing has declined in my left ear and I’ve lost it completely in my right ear and I have facial weakness on the right side. In May 2017 I had my first surgery because of NF to remove a tumor from my L spine. Man, was that tough! But, what in life isn’t tough? Having a support system is so important and I’m very lucky to have an amazing one. My husband, my mom and step-dad, aunts, uncles, grandparents, my sisters and friends.

In 2012 my husband and I met with the IVF clinic at MGH to begin the process of PGD which would have been able to detect in embryos which ones were affected by the NF gene as we made the decision to not try naturally and we didn’t want to pass NF on to our children. Unfortunately because of the type of mutation my NF gene is, we were unable to complete the process. It was a very hard to thing to do and decide but we knew we chose right. We waited a few months and then decided to proceed with adoption. We became licensed and went through the process of adopting our son! We were matched with him in December of 2013 when he was just 5 days old. He’s the love of our life.

NF is part of who I am and I have embraced it. It took 7 years for me to finally be okay with it. Nowhere in books or research does it tell you what a normal time frame is to be okay, but trust me when I say I went through some dark times in my life because I was overwhelmed and didn’t know what my life was going to be. Once you’re able to embrace, accept, and love yourself, NF and all, you’re going to be okay. I involved myself in fundraising for NF research organizations over the years because I felt like giving back and sharing my story may help someone else. It makes me feel like I’m doing something for NF and others affected just like me. I now volunteer my time with NF Northeast and am organizing events in Connecticut for families! Keep your eyes peeled!

Life is a crazy journey, and if I didn’t have NF, I wouldn’t have met some of the most amazing people I now know. I love my life, NF included. Why? Because it makes me, me.

 

Miguel is a very special young man. Born with neurofibromatosis type 1, his medical and educational needs were unclear. Initially in foster care, his parents were informed he would need medical and supporting services throughout his life. Each stage of his development was celebrated, and each medical hurdle was met with a sense of relief. With additional medical and educational services, Miguel successfully completed high school this past year, is attending college, and works part-time. He is also a member of a local community church and volunteers his time to community activities. His parents, extended family members, and friends understand that NF1 doesn’t need to stand in the way of leading a good life. Miguel represents one of the many faces of NF1, and that having NF1 should not limit setting sky-high goals.

This is my son, Max. Max was diagnosed with neurofibromatosis type 1 at the age of 4. He was born with a couple cafe-au-lait spots, but we assumed they were birth marks. The next 4 years were filled with Occupational Therapy, Speech Therapy, and Physical Therapy. As Max was preparing for a surgery in 2011, genetic testing was done. Never did we expect an NF diagnosis. As a matter of fact, we had never even heard of this disorder. His is a spontaneous mutation. Wow, what an eye-opening experience we have had since that day! Looking back, several things suddenly made sense. Since then Max, his family and faithful friends have fundraised every year at the NF Walk.

I think it may be hard for some people to see Max as having a disorder since he doesn’t have many of the visible symptoms that accompany NF. However, Max has learning disabilities, ADHD, hearing loss, a submucous cleft palate and a speech impairment. He has several cafe-au-lait spots, fibroids on his body, and Lisch nodules in his eyes. To say that Max is one of the strongest kids I know is an understatement. He has endured 6 surgeries within the first 8 years of his life and never once complained. Despite these issues, Max is an incredibly sweet, happy, smart, super silly boy with such a gentle soul. He is a very active boy who loves music, singing and dancing, Disney, Star Wars and just being a typical 10-year-old kid. This kid is a trooper and amazes us on a daily basis. Needless to say, Max is truly our NF Hero!

 

My name is Joseph and I was diagnosed with neurofibromatosis type 1 as a young child. My entire family has been affected by NF, including myself, my 3 brothers and my mother. Thankfully medical treatments have come a long way over the years. My brother Peter had tumors on his skin and was bandaged at school as a youth, so he would not be bullied or have the tumors injured. This would not be the case in today’s society – awareness and better treatment options for NF are continuously improving. Peter went on to college at Buffalo State and was a trained EMT – he did his best to live a productive life.

Presently, myself and my 2 younger brothers Brian and Scott are managing our neurofibromatosis. Both Brian and Scott live in a group home in Edmeston, N.Y. due to having developmental disabilities. As for myself, I have been seeking medical care in Boston to help treat my cataracts and improve my vision. I try to make the most out of life and enjoy spending time geo-cashing, hiking, camping and networking with others who have NF. I find genealogy fascinating and spend much of my time researching the history of my family.

 

 

 

 

My daughter, Sasha, is 10 years old and an absolute inspiration every day. She takes everything in stride and always has a smile. Sasha was diagnosed with neurofibromatosis type 1 and autism within the space of a few weeks whe she was just 3 years old.

I continually revisited the doctor when Sasha was just a baby as brown marks (which I now obviously know are café-au-lait spots) kept appearing on her body. Her GP had no idea what they were, but I was repeatedly told ‘not to worry’. One midwife even told me they were ‘stork marks’ which I explained weren’t there when she was born so how could they be?

After doing my own research, I returned to the GP and suggested it could be neurofibromatosis. The GP hadn’t even heard of it and referred us to a neurologist who diagnosed her within minutes. It had taken so long to get to that point and I was so shocked at the lack of knowledge, even in the medical world to this condition. I wrote an article for the local paper too, in the hope that other parents wouldn’t have the same stress at getting a diagnosis like we did.

Her form of NF1 was from a ‘mutant’ gene as neither Sasha’s Dad nor I had any history in our families. Sasha was diagnosed with an optic glioma at 5 years old, just as she was starting school and had to undergo 18 months of chemotherapy. Although we spent weeks at a time living at the hospital and Sasha was so weak and sick, she never once lost her sense of humor or smile. Whenever I felt down or thought ‘this is so unfair. Why us?’ I would look at Sasha’s attitude and scold myself for being negative.

Although the chemo was successful and shrunk the glioma, she is now virtually blind in her right eye. Sasha has MRI scans every 6 months and is also monitored at the neurofibromatosis clinic at Guy’s Hospital in London.

The most frightening thing to me about this condition is the unpredictability of it. You never know what is to come and pray that the symptoms do not become too extreme. The more awareness, fundraising and understanding of NF there is, the more likely we will find a cure or more preventative treatments.

 

Shannon started with a café-au-lait spot on her shoulder at 2 months old and by 4 months she had several of them which led to her pediatrician sending her to Genetics to be examined. She was given a “probable” diagnosis at that time and one year later a full diagnosis of neurofibromatosis type 1 (NF1). Shannon has recently been diagnosed with Eosinophilic Esophagitis and is followed in the EGID Clinic at Boston Children’s Hospital, as well as the NF Clinic and Ophthalmology.

She started her care at Connecticut Children’s Medical Center in Hartford, CT but is now followed by the NF1 Clinic and the Eye Department at Boston Children’s Hospital. Shannon is a very active 7-year-old who loves to dance (in her 6th year), play sports (basketball, baseball and soccer) and doing activities with her Daisy Troop. Shannon also takes karate and is currently a purple belt at Integrity Martial Arts. Shannon lives in Hampden, MA with her mom, dad and older brother. Plus 2 tortoises.

 

Hi, my name is Erika. I am 16 years old and a sophomore at Rutland High School in Rutland, VT and this is my story.

When I was three years old I was diagnosed with scoliosis and neurofibromatosis type 1. I have a tumor on my right lung, on my brain, and one on my collarbone that wraps around my spinal cord. NF affects my life a lot because it affects how well I can breathe. With the tumor on my lung it drops my breathing to 50% out of 100%. When you have NF you have to watch the tumors very carefully to see if they are changing. You also have to watch to see if they are cancerous, thankfully mine are not, but that doesn’t mean they won’t be in the future. Also, you have to go through breathing tests to check if your breathing is improving or getting worse.

When you have neurofibromatosis and scoliosis there are a lot of things that you can’t participate in like gym or sports and much more, but eventually when you have lived with it for a while you learn to deal with it. Although you can’t do some things there are other things you get to do! After surgery, my family and I were able to attend a New England Revolution game! So even though sometimes it’s hard, other times it’s fun. But NF doesn’t only affect me there are plenty more people that are affected by it and I am only sharing my story. NF affects people’s lives a lot because it sometimes takes away from what people love to do. Life is still possible with neurofibromatosis. Through all this I have had the opportunity to meet two different Vermont Governors.

 

 

Zario is a fun, funny, inquisitive, energetic, kind, loving 12-year-old. He is wrapping up 6th grade and the summer can’t come soon enough for Zario! He loves playing basketball and soccer. He loves to swim, bike and play in the ocean in the summer and ski in the winter. He still loves Legos and is a whiz at solving the Rubik’s Cube. He is an awesome big brother and best pal to his younger brother, Maxim, and he loves spending time with his cousins and extended family.

Zario spent the first years of his life in the Bay Area, where he was born, as well as in Galway, Ireland. He moved to Massachusetts with his family at the age of 4. At Maxim’s 2-year-old wellness check, just after the family moved to Massachusetts, a pediatrician pointed out the sole café-au-lait mark on Maxim’s back. Upon inquiring more about the significance of the mark, being introduced to the term neurofibromatosis (NF) and assured by the pediatrician that Maxim didn’t have the disease, Zario’s mom, Liz, immediately suspected Zario had NF. She went home and researched the disease and brought Zario back to the same pediatrician a couple days later. Zario had multiple café-au-lait marks and lingering bumps on the back of his leg, which his previous pediatrician had indicated, respectively, were “birth marks” and “likely eczema” – the latter of which is a plexiform neurofibroma. Subsequent MRIs would reveal an optic glioma and a retropharyngeal PNF, among others.

Zario’s family is so thankful to live near Boston Children’s Hospital and have access to its world-class NF clinic and specialists. They are proud to be part of the NF community and are committed to raising awareness of NF to help lead to earlier disease diagnosis, effective treatments and, hopefully, one day a cure!

 

This is eleven-year-old Jonathan who was diagnosed with neurofibromatosis type 1 (NF1) when he was almost 3 years old. Jonathan loves his sister Emma, playing the Wii, swimming, watching sports and playing violin. He receives speech and occupational therapy twice a week, receives extra support in reading and in social skills, and is followed by an ophthalmologist and neurologist at Boston Children’s Hospital. Jonathan is looking forward to starting middle school next year.

 

Lindsey is 23 years old and has neurofibromatosis type 1 and congenital pseudarthrosis of the tibia (CPT). Due to the CPT Lindsey wears a leg brace or KAFO 24/7 and has never walked without one. Lindsey’s mom named her after Bionic Woman (Lindsay Wagner) because she liked the name, but who would have thought Lindsey would become the real life bionic woman!?

Lindsey has had around 20 operations mostly for her leg but a handful for NF as well. Lindsey is currently in transition out of her children’s hospital where she has been seen for 23 years. She has her first visit at Johns Hopkins in June to talk about the next steps in her journey with NF.

Lindsey was recently promoted to Recruiter at the company she is employed with and in her free time she enjoys doing hair and makeup and although she doesn’t work at a salon anymore, she has her cosmetology license!

 

My name is Rebecca and I’m from Troy, NY. I graduated last summer with my doctorate in physical therapy from The Sage Colleges. I took the state board licensing exam in the fall and started working soon after in assistive and independent living facilities.

I started losing my hearing during my sophomore year of college and was diagnosed with neurofibromatosis type 2 (NF2) during the fall semester. As a biology major, I had a very intense coursework and lab schedule. Managing a new medical condition was not part of my master plan. However, because of neurofibromatosis, I have met the most caring and inspiring healthcare professionals and families. My family are my rock and provide me with support and love every step of the way. They attend all of my medical appointments, MRI imaging scans, audiology exams, and hospital infusions without complaint.

Most recently, I had surgery this past March to debulk a schwannoma at the NYU Langone Center and insert an ABI. I spent one week in the hospital and another 2.5 weeks at a rehab center. I am currently in the process of “retraining my brain” to hear again with the ABI. I am excited about this technology!

My family and I are in a fight against NF and we refuse to let it prevent me from having a happy and wonderful life. We are grateful to everyone who is working so hard to find a cure for NF and to advocate for the rights of people disabled by NF. We hope that our efforts to find a cure will be rewarded soon.

 

This is Kenzley, our own mini Wonder Woman! She will be two at the end of the month. We received her diagnosis of neurofibromatosis type 1 just last month, after results returned from genetic testing. When Kenzley was born she had only two café-au-lait spots. By the time her first pediatrician appointment came a week later, she was up to six, and a week after that, ten. She now has 44 café-au-lait spots (strong spots as we call them) on the trunk of her body.

As every parent knows, a new diagnosis is frightening and when that new diagnosis comes with no cure, it is a whole different level of fear. However, this diagnosis has taught us just how thankful we are for every moment we spend with this little girl. We have learned to celebrate every little milestone that comes our way. She had gross motor delays when it came to walking and strengthening her muscles, and currently fights a significant speech delay, but has caught on to sign language quickly. She makes us all laugh daily as she communicates in her own quirky ways, just how she is feeling. Besides a minimal right sided weakness, Kenzley currently displays no other symptoms of the disorder. It’s a nightly prayer in her family that it stays just the way it is.

Her family travels to Boston Children’s Hospital 4-6 times a year for appointments with the neurologists, brain MRI, ophthalmology to check for gliomas, and to see her favorite Dr. Miller- NF specialist. They are so thankful to be so close to one of the best hospitals in the nation, to have friends and family that are so incredibly supportive and willing to learn more about this disorder and that God blessed them with the sweetest, strongest little girl who has taught them so much in so little time!

 

At 9 months of age, Callie was diagnosed with neurofibromatosis (NF) after her family discovered several café-au-lait spots on her skin and reviewing family history. At the age of 21 months, Callie had a pre-cautionary MRI done on her brain to check for tumors. A tumor on her left optic nerve was found in which doctors considered chemotherapy to help shrink the tumor. However, after getting a second opinion at Boston Children’s Hospital, Callie’s team of doctors decided to hold off on the chemo and chose to monitor her tumor with MRI’s and vision exams every 3-6 months.

Due to NF, Callie had many development delays as an infant and toddler and received early intervention therapy services for physical therapy, speech therapy and occupational therapy until she was 3 years old.

Callie is now 6 years old and has tons of energy. She does extremely well with her team of doctors and doesn’t mind all her appointments. She is excited to be starting 2nd grade in the fall.

 

Ava is 12 years old and has been doing well! Although she suffers from headaches and fatigue on a daily basis, she has managed to make Honor Roll in her first year of Middle School. She loves dancing, the theatre, the beach and riding her bike. She’s a fashionista who loves spending time with her family and friends. When Ava was 7 months old she was diagnosed with neurofibromatosis type 1 after her mom and dad noticed café -au-lait spots on her body. Ava attends Physical Therapy sessions twice a week, regular check-ups and receives annual MRI’s at Boston Children’s Hospital to monitor her muscle tone, lesions on her brain, optic glioma, neurofibromas and overall progress. Ava has overcome so many challenges. She’s been a fighter every step of the way.  Her family has made it their mission to spread awareness of neurofibromatosis and will not stop fighting until a cure is found.

 

Fiona is 4 years old and was diagnosed with neurofibromatosis type 1 when she was 19 months old. Her symptoms at diagnosis were tibial dysplasia in both legs, which means her legs can easily fracture or break, as well as a large plexiform neurofibroma growth in her chest. She wears leg braces to protect her leg bones. Fiona undergoes MRI’s several times a year to monitor the growth in her chest and to monitor new growths that could pop up anywhere. This past winter, it became clear that the growth in her chest is growing and most likely the cause of her recent diagnosis of scoliosis. Fiona recently got a new back brace to wear and wears it like the true champion she is. Fiona never complains about her medical condition, and lives life to the fullest. Fiona enjoys going to school every day, drawing, singing, playing with her sisters, and loves Peppa Pig. She is our NF Champion.

 

This is Nat. Nat turns 3 this summer and is obsessed with anything to do with Lightening McQueen. When Nat was 7 months old he was diagnosed with neurofibromatosis type 1. He has had two MRI’s to monitor his eyes (which thankfully have both come back clear) and has a small plexiform neurofibroma on his chest. His family likes to joke that he is the only kid at day care with chest hair.

Nat attends regular check-ups with his Ophthalmologist and Neurologist at Boston Children’s Hospital. Nat’s family fundraises and raises awareness about neurofibromatosis through participation in endurance activities and will not stop until a cure is found. Nat will be cheering on everyone at the Falmouth Road Race and the Coast to the Cure NF Bike Ride again this year and is looking forward to seeing you there.

 

Leah is a beautiful, intelligent 18-year-old girl who has neurofibromatosis type 2. Leah currently has several tumors in her brain, spine and throat. She has endured 13 major surgeries in the past 11 years, is currently deaf in her right ear, has facial paralysis, balance issues and a cervical spinal fusion.

When diagnosed 11 years ago, there were no effective treatments for neurofibromatosis type 2 other than surgery. Because of growing awareness and research funding, Leah now receives Avastin and Afinitor, both chemotherapies that through research and the lengthy process of drug screening and clinical trials is now an available treatment options for certain types of NF2 tumors.

Leah is graduating from high school this June and will be attending the Rochester Institute of Technology in the fall majoring in Bio-medical Sciences. She is an active NF fundraiser, and for the past 8 years has traveled to Washington, DC and advocated to Congress for increased federal funding for NF research. Leah is an avid outdoors-woman and enjoys hunting, fishing, kayaking, and hiking. Anyone who meets her is amazed at her courage and positive view on life. Leah is truly an inspiration to everyone who meets her.

 

Austin is eight years old and currently in the second grade. He was diagnosed with neurofibromatosis type 1 at the age of eighteen months.

During one of his pediatrician visits they noticed he had more than six café-au-lait spots and was also developmentally delayed in his fine and large motor skills. That is when his family first heard of NF. It was recommended to them that he see a genetic doctor for further evaluation which gave them the confirmed diagnosis.

With Austin being the only one in their family to have neurofibromatosis, they were at a loss as to what would be his outlook and where they needed to go first. Having developmental delays, Austin received early childhood intervention with physical and occupational therapy with a positive result. As of today, Austin has gained enough strength to run and jump and is even learning how to ride a bicycle. His family is pleased to also report that he currently is stable with his optic glioma. Having had continuous MRIs, they have been very optimistic with his vision.

Austin is a sweet and very loving young man with a very big comical personality and has a great passion for monster trucks. His family is so grateful that they found Neurofibromatosis Northeast.  It has been a tremendous help by giving them the resources and the knowledge they did not have before. From Austin’s family – Thank You NFNE!

 

Jane is 11 years old. She was diagnosed with neurofibromatosis type 1 (NF1) at 6 months of age. The primary manifestation of Jane’s neurofibromatosis is a large plexiform neurofibroma on the right side of her face, jaw, and neck. Jane will continue on a clinical trial with selumetinib for a fourth year. Her tumor has been stable overall in the past year, though some areas have shown some recent growth. For this reason, and because Jane has grown so much herself in the past year, her doctors are increasing the dose of her medication over the next several months.

Jane started middle school (5th grade) this year. In addition to continuing to enjoy soccer and piano and reading and spending time with her family and many friends, Jane has taken up playing the flute this year, has started taking theater class at school, and started playing basketball this winter.

 

Lizzy is a 26-year-old young woman with neurofibromatosis type 1. She was diagnosed at age 2 1/2 after her parents noticed some issues with her face. Lizzy recently graduated from Landmark College with a Bachelor’s degree in Liberal Studies! She has traveled around the country and given talks about her condition and raising awareness. Not bad for a kid who wasn’t expected to live past age 9!

Lizzy has recently been dealing with some bullying at work, but she has a great support system and has been pleased with how her employer is handling the situation.

Her family is so incredibly proud of her and can’t wait to see what she will do next. She has been such an inspiration to everyone.

 

Hannah has lived with neurofibromatosis type 1 (NF1) for 42 years, but for a long time, her family had no idea that she was suffering from neurofibromatosis and its many related symptoms. It has been a long, lonely struggle in a medical system that had very little understanding of neurofibromatosis and not much to offer. Because neurofibromatosis was poorly understood, every associated problem that she experienced was treated as a separate problem. Her family shuttled from one referral to another looking for help from what seemed like the entire Boston medical and educational establishment.

One of the most difficult parts of neurofibromatosis was the tendency of people, teachers, peers, coaches and employers to criticize and blame Hannah for her various symptoms and advise her to “buck up”, “hang in”, and “soldier on”.

Her family feels that it is deeply heart-warming to know that there is a community that raises awareness of neurofibromatosis, promotes research and provides support so that NF families and their children don’t have to struggle in the dark.

 

This is Charlie. He is 14. He was diagnosed with neurofibromatosis type 1 at 9 months old. He is in many ways a typical teenager and knows every fact about every supercar ever made. He also loves horses and music. Neurofibromatosis has affected his life in many different ways including multiple MRI’s to keep track of tumors in his brain and his kidneys. He also struggles with learning disabilities and has some delays in gross and fine motor skills. He’s lucky to be followed by the NF clinic at Massachusetts General Hospital and has a great prognosis. His family works tirelessly to raise awareness and funds to help find a treatment or cure for neurofibromatosis, including his little brother, Mitchell, 11.

Charlie is physically healthy, and his family received good news that his renal arteries won’t require rebuilding in the near future, so they’re going to be waiting for a bit. He’s had a few hospital stays in the last year but they’re hoping that’s mostly behind them! He continues to struggle with Asperger like symptoms but has been trying very hard to make friends and has another NF Champion he’s been talking to and hanging out with a bit from Connecticut.

 

When Jocelynn was about a month old her parents noticed a golf ball sized brown mark on her left knee. After that they started noticing the same colored spots, in various sizes, popping up all over her body (café-au-lait spots). They were referred to a neurologist who then referred them to a dermatologist and a geneticist where Jocelynn was diagnosed with neurofibromatosis type 1 before her first birthday. The hardest part for her family was the unknown. What was going to happen and when? Shortly after her first diagnosis, Jocelynn was also diagnosed with juvenile xanthogranuloma. Because of the two disorders, there was a very high yet unexplained risk of her developing Juvenile myelomonocytic leukemia and that the chances would lessen after the age of two. These are words NO parent should ever have to hear. They were heartbroken and scared.  Around the age of two Jocelynn was seen by an Oncologist who assured them they would probably not have to see him again. A huge sigh of relief for all.

Jocelynn’s appointments to genetics and dermatology have gone from three months to every six months to every year. Her family is planning on traveling to a neurofibromatosis clinic in the near future, if for anything, just to gain more knowledge and understanding. It has been a long, confusing, sad, angry and tiresome journey for her family and friends that have been involved.

Jocelynn currently has numerous café-au-lait spots from head to toe as well as some neurofibromas, none of which have affected any nerves. Her symptoms are mostly cosmetic at this time. She is a very smart, funny, beautiful and confident little girl who has been the bravest one out of all of us.  She is our rock, but most importantly our NF Champion!

 

Hi. I’m Yvonne. I have neurofibromatosis type 1, as do my three children. We have faced many challenges with NF, including amputation of my leg and two of my children losing most of their vision due to a brain tumor. Despite all of this, I have hope a cure will be found. Neurofibromatosis is part of who I am, but NF is not who I am. Everyone has obstacles in their life…we have a choice to let those challenges control us or we can learn to navigate around them.

I recently had surgery to remove some tumors on my amputated leg. It was a setback but still did not stop me. Yes, NF can be and is a pain. But it will never stop me from enjoying life. Stay strong my fellow NF warriors.

Without the support of my husband and family and my faith we would not be able to go on. NF will not stop any of us from reaching our goals.

 

Emma was diagnosed with neurofibromatosis type 1 at 18 months old. The most significant history for Emma is that she underwent surgery in October 2017 to debulk the glioma in her brain. Emma has grown up visiting many different types of doctors. She has seen spinal specialists, eye specialists, Endocrinologists, and Neurosurgeons to name a few. She has MRIs every 3 months. Emma is a fighter and continues to succeed in everything she sets out to do. She will be attending Saint Anselm College in the Fall and is ready to start her college career. Emma will continue to be monitored for the tumor in her brain and other NF related issues, but her wonderful attitude and courage continues to be inspirational to all who know her.

 

Aubrey is an almost 3-year-old little girl who was diagnosed with neurofibromatosis type 1 in July 2016, shortly after turning one year old. Aubrey was born with one café-au-lait spot on the back of her thigh that her family assumed was a birthmark. Around 2 months old, more of these same spots started appearing all over. As she got a little older her mother started to notice she seemed very “floppy” and wasn’t able to put weight on her legs as a baby should. At the suggestion of her pediatrician, her mother made an appointment with a neurologist. It was at that appointment, they learned that Aubrey has hypotonia and it was the first time, they had heard the word neurofibromatosis. Her mother says, “I remember the doctor wrote that long, intimidating word down on a piece of paper and as soon as we got home I looked it up and I just knew he was right. Neurofibromatosis would explain the café-au-lait spots, the hypotonia, her gross and fine motor delays, all of it. I quickly made an appointment with genetics and Aubrey was clinically diagnosed shortly after her first birthday. Her NF was a spontaneous mutation, meaning there is no family history.”

 

Meet Deniro, aka “Deniro Our Hero”, who was diagnosed with neurofibromatosis type 1 at the young age of 3. Deniro who is 11, faces many of the common challenges seen in NF patients, but he also has an inoperable tumor, called a plexiform neurofibroma, that affects the left side of his face. Despite this, Deniro loves planning activities for his family, playing with his friends and is a die-hard WWE fan! His main goal in life is to please others by being funny for the simple pleasure of seeing people laugh. Deniro has become a “Hero” to his friends, family and community who have all made it their mission to help find a cure.

 

My name is Madalyn and I recently graduated from Brandeis University in Waltham, MA where I studied Biology and Public Health. I was diagnosed with neurofibromatosis type 1 when I was two years old after doctors noticed café-au-lait spots on my skin and discovered an optic glioma on an MRI. Because of the diagnosis, hospitals, MRIs, treatments, and surgeries became a big part of my childhood. Living with NF has undoubtedly come with many challenges, but it has also led me to become passionate about science and medicine. For the next two years, I will be working as a Research Technician at Dana-Farber Cancer Institute. After, I plan to attend medical school and pursue a career in pediatrics. Ultimately, I hope to help others with NF through both clinical practice and research initiatives. I am so grateful for organizations like Neurofibromatosis Northeast that are constantly working to help those with NF and fight for a cure!

 

This is Damian. Damian is an enthusiastic 4-year-old who loves people and is never short on a smile or a hug. He adores his big sister Maddy most of all and the feeling is mutual, as she adores him just as much. Since being diagnosed with neurofibromatosis type 1 during his first year of life, Damian has faced a number of challenges that impact his overall development. We are very fortunate to have grown an amazing team of individuals who help us monitor and treat his NF related symptoms, as well as provide support and guidance along the way. These individuals include a Pediatrician, Geneticist, Pediatric Ophthalmologist, Speech Therapist, Occupational Therapist, Physical Therapist, Genetic counselors (for all our questions!), Special Education Teacher, Case Manager, daycare provider and countless family and friends. Despite all the doctor appointments, therapy appointments, the occasional blood draw, x-ray or MRI, Damian always has time to just be a kid: to laugh, play, create, get dirty, and explore.

 

This is Riley.  Riley was diagnosed with neurofibromatosis (NF) type 1 on her 5^th birthday, and is currently 12 1/2 years old.  She has 3 plexiform neurofibromas in her head and neck, scoliosis, abnormal bone development of her upper palate, and attention deficient disorder (ADHD).  Riley sees up to 8 doctors annually, and is actively being treated for her scoliosis, dental issues, and ADHD.  Riley is currently in puberty, and it is unknown how the hormones will affect her disorder; for example, her current tumors could grow larger and/or she could develop one or many more tumors anywhere in her body.  The unknown of what the future holds is one of the most difficult aspects of NF.  Still, despite her issues, Riley continues to embrace each day.  She is a huge hearted kid with a love of people, animals and life, and she touches the heart of everyone she meets!  She plays on 3 softball teams and recently became a Bat Mitzvah.  Her family is very proud of Riley, and they will never stop fighting to find a cure for her and all those affected by neurofibromatosis!

 

This is Isaak. He is 3 years old. Isaak was 3 months old when he was diagnosed with neurofibromatosis type 1 after his mother noticed small flat brown spots on his skin, later to be identified as “cafe-au-lait” spots, along with a very curved left lower leg. This diagnosis was identified as congenital pseudoarthrosis, a very rare clinical manifestation of NF1– a fracture that will not heal and is often called a “false joint”. His left tibia and fibula later fractured in July of 2016 when he was 1 ½ years old and after 10 weeks in a cast, it had still not healed. After much research, discussions, and meeting with orthopedic specialists nationwide, Isaak’s parents made the grueling decision to amputate his lower left tibia and fibula so he could live a life with “No Limits” and reduce having a childhood filled with multiple surgeries. Since getting his prosthetic leg, Isaak has thrived and loves to run and jump and enjoys his gymnastics classes, playing at the park, driving his ATV and loves to help mom cook. He is enjoying being a big brother to his baby sister Faith who was born in February.

 

Five-year-old Mia was diagnosed with neurofibromatosis type 1 in January of 2017.  Her family was heartbroken as well as filled with anxiety over what the future would now hold for Mia. As of today, they can say that Mia has a “mild” case of NF.  She has gross and fine motor delays, has multiple café-au-lait spots, and an optic glioma in her eye. Believe it or not, this is considered mild.  Mia has undergone sedation on 4 different occasions for MRI’s to scan her brain and eyes for tumors.  Fortunately, the glioma that she has has remained stable and does not require chemotherapy at this time.  The constant worrying that every parent has for their child in general is amplified when a child has NF.  Wondering if new tumors are growing under the skin that we can’t even see.  Wondering if a tumor will grow on her skin, and she’ll get teased.  Will this beautiful, spunky five-year-old go blind or deaf?

Mia is a happy, energetic little girl that loves Kindergarten, softball and playing with her little sister.

 

If you or a loved one would like your story shared, please contact Diana at dflahive@nfnortheast.org.