Meet some of our NF Champions, adults and children living with neurofibromatosis.
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.”
Today, Aubrey is almost 3 years old and to know her is a blessing. She is just the sweetest little soul: loving, kind, funny, smart, strong and determined! She has done physical therapy in the past and she may continue to need a little more help as she grows.
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 5th 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 Kibler 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.