Neurofibromatosis- What is it?

I have mentioned Neurofibromatosis briefly in different posts and I know that I will bring it up again. So I wanted to let others know what Neurofibromatosis is. (also known as NF).  I am going try not to sound too much like a textbook or a medical website while I explain it a little bit.  Both Josiah and I have it. I inherited it from my mom, who got it from her mom.

NF has 3 different types. NF1, which is the most common type and the type that my family has and it is what I will post about. There are also  NF2 and Schwannomatosis.

NF is a genetic disorder that causes tumors to form on nerve tissues. I didn't start to develop these tumors until adolescence. Some people develop them earlier in life, others may never have the tumors. The tumors can show up anywhere on your nervous system (which includes the brain, spinal cord and nerves). Most of the time these tumors are benign but sometimes they can become malignant. I mainly have them on my stomach, chest and back. Some people have only a few, others may be covered by them. I am very self-conscious about mine. 


I was diagnosed at birth with the NF. The doctors knew I had it because I at least 6 of the the cafe au lait spots (birth marks that look like coffee spills). I first noticed Josiah cafe au lait spots when he was 4 months old and he was diagnosed shortly after he turned 1. NF1 always shows up during childhood (before the age of 10). It is hereditary, but only if one of the parents have it and than it is a 50% chance. Although someone may get it from a spontaneous mutation. Smiles is the only one out my 3 here on earth children that have it. 

What causes it?The NF1 gene is located on Chromosome 17. That gene normally produces a protein called neurofibromin that helps regulate cell growth. With NF the mutated gene caused a loss of that protein which allows the cells to grow uncontrolled.

Neurofibromatosis is more than just tumors and physical features. It can cause (along with some other issues):

• Neurological problems. Learning and thinking difficulties are the most common neurological problem. Some of the uncommon complications include epilepsy and buildup of excess fluid in the brain.
• Concerns with appearance. Visible signs of neurofibromatosis — such as extensive cafe au lait spots, numerous neurofibromas in the facial area or large neurofibromas — can cause anxiety and emotional distress, even if they're not medically serious.
• Skeletal problems. Some children have abnormally formed bones, which can result in bowing of legs and fractures that sometimes don't heal. NF1 can cause curvature of the spine (scoliosis) that may need bracing or surgery. NF1 is also associated with decreased bone mineral density, which increases your risk of weak bones (osteoporosis).
• Vision problems. Occasionally in children, an optic glioma can develop, affecting vision.

This is why Josiah will be getting a MRI soon. His specialist wants to proactive so that if he develops an optic glioma we can get it treated right away.

• Cancer. An estimated 3 to 5 percent of people with NF1 develop cancerous tumors. These usually arise from neurofibromas under the skin or from plexiform neurofibromas. People with NF1 also have a higher risk of other forms of cancer, such as breast cancer, leukemia, brain tumors and some types of soft tissue cancer.

My mom had breast cancer, My younger brother (who has NF1) was diagnosed with thyroid cancer when he was 11. I had a very rare form of skin cancer called Microcystic Adnexal Carcinoma
Now I am not sure if any of our cancers were necessary linked to NF but everyone in my immediate family who has NF with the exception of Josiah, has had some kind of cancer.

We decided to have Smiles seen at Cincinnati Children's Hospital because they have a research clinic just for NF. We love Columbus Children's hospital and our children has received excellent care there for various surgeries. (including Smile's kidney surgeries). So even though Columbus is closer we wanted to go to a hospital with the newest research. They also are willing to follow me, which is great! I have not been seen for my NF since I was a child and had regular MRI's.

Being Brave

I don’t feel brave. I am one of those people who when told bad news immediately start thinking the worst and sometimes the fear paralyzes me. I start wondering all the “what if’s”. The summer of 2014 I got to see how brave I really was and how I can face multiple health crises with God.

My husband has Crohn’s disease and has brushed death multiple times. That summer he really struggled with his hemoglobin levels. My husband always pulls through and I manage to deal with the children, the household, and the reality that he might not make it this time. Our children watch him faithfully praise God in midst of consistent immobilizing pain and seek God no matter what. I see him as being brave; a wonderful example to our 3 sons.

That summer my baby, Josiah (4 months old at the time), needed surgery for his kidneys. While I was pregnant we knew that his kidneys were not functioning correctly. After he was born, we found out that his good kidney was functioning at 80%, while his bad one was only functioning at 20%. Amazingly, I had peace about the surgery and thought we would get through this and life will get back to our normal.

Hours before we left for his surgery I got a phone call from a surgeon who removed a cyst from my underarm earlier that summer. It had been there for over a year and I showed it to multiple doctors but none of them were concerned about it. He wanted me to come in right away. I had cancer, a very rare form of skin cancer that only 300 people worldwide has been documented as having.

I was scared. Cancer took my mom the fall of 2010. Both my husband and my baby were having health problems of their own. I was suppose to be the healthy one! I had 2 other sons to raise. I needed to be able to take care of my husband and the baby and the other boys. I had this lump for well over a year. Did it spread? What kind of treatment would I need? How will I tell my children, especially my oldest who knows how my mom died and understands this all? How will we manage?

I did not have time then to try to Google what little information was available because as soon as we left the office we had to leave to head to Columbus for our Josiah’s surgery. His surgery was on a Friday and they kept him all weekend. I had a lot of time to think that weekend while in the hospital room with him. At night was the worst. That was when the fear started to creep in and made it hard to sleep. God gave me this verse, “God did not give us a spirit of fear, but of power and of love, and of a sound mind” (2 Timothy 1:7). He also brought to my attention that it is not my diagnosis that will affect my children as much as how they see me handle it. This was their only childhood and I am leaving them a legacy.

What they see from me has a great impact on how they will remember me. If I run from my fears and ball up and shut down- that is what they will see. If I embrace life and seek God and show that I am scared but I do not fear because I know who controls my destiny – that is what they will see. I want them to see mom seeking God, because that is what is important. I want them to know that they can be brave despite being afraid because God is in control. Showing my emotions of being sad or upset is okay, because it shows them you can be authentic. That being brave does not mean you can’t ask for help or that you need to do it on your own. But admitting that you cannot and seeking God and asking others for what you need. Thankfully, I am now cancer free and the bravery that came from my summer’s experiences are now part of the testimony I share.