What is Neurofibromatosis?

There are three different forms of Neurofibromatosis. NF1, NF2, and Schwannomatosis. NF1 occurs in about 1 in 2500 births and is the most common neurological genetic disorder caused by a single gene. NF2 is much more rare only affecting about 1 in 25,000 people. Still rarer yet it Schwannomatosis only affecting about 1 in 40,000 individuals. NF1 is categorized by multiple spots of discoloration on the skin known as cafe au lait spots, as well as tumors throughout the nervous system, some cancerous and some not. There is a long list of other issues that people with NF1 face ranging from mild to sever. NF2 is known for tumors on the auditory nerves but also can lead to tumors on the cranial and spinal nerves as well. Schwannomatosis, being the rarest of the three, is just now being discovered and studied and its multiple symptoms very greatly between patients. 

To learn a little bit more about Neurofibromatosis, here are a few links that might help:

Kyler is 12 years old. He was diagnosed with NF1 at 6 weeks old.  Kyler has been diagnosed with ADHA, sever anxiety attacks, learning disabilities, fine motor skill delays, severe migranes, IBS related to NF, chronic/sever pain, plexiform tumor, multiple tumors inside his body and out, and mild scoliosis. Because of the medications Kyler has to take, he has been hospitalized twice due to pancreatitis and he has had kidney stones. With everything this 11 year old has going on, he still has a smile on his face!! Kyler is a true NF hero!! 
To learn more about Kyler and to make a donation in his name to the Children's Tumor Foundation please visit his Fundraiser site listed below...

Hadley is 2 years old. She was diagnosed with NF1 in December of 2011. She is the only one in her family to be diagnosed but it is suspected that her father has it as well. NF1 is usually passed through genetics but it is known to be a random mutation. Hadley also has a heterozygous truncating mutation. She suffers from ADD, ADHD, and eating and sleeping disorders to name a few. Just like any other child her age she loves Sesame Street and playing with her older sister. The scariest part for Hadley and any of these children with NF1 is that we never know how the disorder with affect them, and sometimes the worst part can be just thinking about the what ifs. 

Jayvien is 5 years old. This picture is of Jayvien with his scoliosis (EDF) cast on. This cast needs to be redone every 3 to 4 months at the Shriners Hospital in Salt Lake City, Utah.   He was diagnosed with NF1 and infantile scoliosis at Loma Linda University Medical Center in California. Right now Jayvien's scoliosis is at 81% which is considered sever. It is just a matter of time before his scoliosis gets out of control and when that happens he will move to the growing rods. These rods will require him to have surgery every 6 months to have them extended. Later, when he is in his teens, he will have to have fusion spine surgery. Most patients that only have scoliosis will be OK with just the EDF cast, but because of Jayvien's NF1 diagnosis, the rods and surgery are needed to keep the scoliosis under control. In some cases infantile scoliosis can be fatal because the organs can eventually move and be squished because of the curve in the spine and can also block the child's airway. 
It is so important that we raise awareness for the EDF cast because it can save lives!! A lot of insurance programs do not cover this cast and some hospitals dont have the staff to do it. Shriners Hospital is one of the only organizations that realizes the life saving potential  of this cast for patients that have both NF and scoliosis. 
If you would like to make a donation to the Shriners Hospital for Children, click the link below...

Rhen is 9 years old and already an amazing example of what an NF hero is. He was diagnosed with NF 1 when he was just 2 years old. Rhen's condition was a spontanious mutation meaning that no one in his family had ever had NF. He had Cafe Au Lait spots very early on but it wasnt until an EMG in 2005 that his family discovered that he not only had high blood pressure, but no muscle tone in his lower left leg at all. This prompted the doctors to look closer and run more tests on which they found an optic glioma (tumor on the optic nerve) and several brain UBO's (described as unidentified bright objects common with NF patients). Everything was seemingly fine until 2009 when Rhen's mother was diagnosed with breast cancer. She had a Mastectomy and had just gone through her first dose of chemo when they found out Rhen had a brain tumor. Because of the location of the tumor, a biopsy would have killed him so after consulting with several doctors it was decided that the tumor was classified as a Astrocytoma and the only answer was to put Rhen through chemo. His mother says that he is such a trooper through it all. "He is just a typical, rotten little boy though, who enjoys video games, picking on his little sister, and giving me fits with homework!" . After 3 rounds of 18 week chemo sessions, and the  biopsy of a knot on his leg after a break, Rhen is now back to yearly MRI's and that makes everyone happy. 
At one point Rhen's mother was struggeling with her own chemo sessions and had told him that she was going to quit. "I can't tell you how deafening the silence was after I made that remark." his mother explains "I already knew that I had messed up, here was my boy, going through chemo as well, hearing his mom say she was going to quit...I honestly could see his little wheels turning in that head of his. I let him think about it for a minute, as did I...I finally asked him what he thought...with the sweet innocence only a six year old could have, he looked me square in the eyes and said, 'Mom, I don't think you better quit, you are stronger than that!'" 

Elisha Alan is my 5 year old son. He is my first and only child and the light of my life. His biological father has NF1 and passed it on to Eli. Since I was first pregnant with Eli, his father has not been in our lives and NF was a complete and total surprise for myself and Eli's step dad. Over the past few years we have done a lot of research and met a lot of wonderful people who have helped us to better understand Eli and his needs. 
When Eli was born, we knew right away that something was not right. He had several spots all over his body called Cafe Au Lait spots and his head was abnormally large and misshapen. He constantly had ear infections and at the age of 2 we realized that he was deaf. He underwent surgery to have the fluid drained from his ears and had tubes put in so that they would drain properly in the future. This is a very common procedure among young kids these days and as soon as he came out of surgery he could hear. It was amazing!! What we weren't prepared for was the next few years of speech problems that followed. It is hard enough learning how to talk when you can't hear, but the NF1 brings an assortment of learning disabilities that make his (and our) struggle even harder. 
It is common procedure for patients with NF to have regular check ups with a neurologist and MRIs done to make sure no new tumors form in the body. Elisha saw the neurologist for the first time in May of 2012 and it was discovered that he has a large plexiform neurofibroma on the side of his head that is growing at an alarming rate. A plexiform is a kind of tumor that is very fleshy and can cause severe disfiguration if left out of control. In July  Eli went in for surgery to try to have it removed but it was decided that it had grown too much. The doctor decided he didn't want to make that large of an incision. We did, however, get the best news possible in that it is not cancer! After talking to a lot of doctors about its rate of growth, it has been decided that Eli will go in this summer to have is debluked. We were told that they could never fully get it out and that was the best we could do.

After several years of speech therapy I decided to have he hearing rechecked and we learned that Eli is still deaf in one ear due to a neurofibroma on his audio nerve. We are now discussing options for helping him hear and speak better. 

As any other parent of a special needs or ill child can tell you, if its not one thing its another. It is a long and hard road to have to watch your child suffer. To know that there is nothing you can do for them. You just want to take all their pain for yourself but you can't. 

 


If you would like to see your NF hero featured on this wall, please send me an e mail with a photo and a short story to [email protected]

Ginnie is 5 years old. She was born at 35 weeks and spent 2 weeks in the NICU in Shreveport, LA. When she was about 2 months old, her mother noticed her first Cafe Au Lait spot. Because Ginnie's mother also has NF1, she already had an appointment to have her daughter tested for the disorder and it was at that appointment that Ginnie was formally diagnosed at 6 months old. In June of this year, she was diagnosed with Chiaris syndrome which is where the opening in the base of the skull is larger then normal and her brain has sunk into that opening. Ginnie also suffers from hearing loss due to ear infections but unlike Eli, the tubes didn't help her. She had two sets put in without success so the next step is to try hearing aids to try to aid her with her hearing and speech delays.
Ginnie's mom hopes to enter her into a few pageants in the near future and with an adorable smile like that she's sure to come away with a crown or 5! 

Destiny is 11 years old. She was diagnosed at 2 years old and so far shows no physical signs of NF1 but fights with learning disabilities. She loves to swim and dance and always tries to help others when she can. Destiny believes that nothing is impossible and will try again and again until she accomplishes and perfects her goals. Her mottos are "Can't is not a good word" and " Yes I can!" 
What a great attitude to have Destiny! Many of us could learn a lot from you! 

Sebastian is 17 years old and is adopted. His mother says that she was blessed when he came into her life at 27 hours old.  He had a rough start in life with soy and lactose allergies, pneumonia, and group B strep. At 8 weeks old cafe au lait spots began to appear. By 3 months he had his first MRI and the diagnosis of NF1. After his first MRI his respiratory distress became more pronounced and progressed. At 4 years old a stridor episode resulted in a cardiac arrest. His mother was able to do CPR and had an airway when the medic arrived. After 9 days in the hospital there was still no answer. Sebastian is a typical NF child with many facets to his energetic and out going personality. He has always been a unique NF puzzle for his medical providers. In 2009 the dreadful MRI report came. After 13 years of good reports Sebastian's family was not prepared to learn that the headaches he had complained about for 7 months were being caused by an astrocytoma that may be on the brain stem. He vomited every day for 3 months, post surgery. Finally, he got a g-tube in 2009. That was a struggle, too. The tube did not say in his stomach and every feeding filled his abdominal cavity. No matter what happens or how he feels, he smiles and is pleasant. "God has a purpose for him." Says his mom. Sebastian has been involved with Special Olympics PA York County for 7 years. Currently he trains in 7 sports. The photo above was taken at the 2012 Special Olympics PA Summer Games in State College, PA. Sebastian competed in softball. His neck was hurting him because he has a neurofibroma in a lymph gland. He continued playing, simply tying a bag of ice to his catchers helmet to help ease the pain!! Sebastian is a wonderful example of how NF patents and Special Olympic Athletes are examples of happiness, bravery, endurance, kindness, joy, courage, and patience even through the worst of odds!! 
To make a donation to the Special Olympics click the button below...