Our son's NF journey

Josiah has Neurofibromatosis (NF-1). (Here is a brief overview of what NF is) Last week we took him to Cincinnati Children's Hospital to see his specialist, Dr. Hopkins. Dr. Hopkins wanted to be proactive and ordered an MRI with orbits to look for optic gliomas. Which 1 in about 20 kids with NF-1 develops. Most of the time by the time the child is showing signs or symptoms of one their vision is already affected and the loss vision cannot be restored. So the thought is to get regular MRI's done to look for the first signs of one so if there is one there it can be monitored and treated before any vision loss has occurred.

Because we live a good 3 hours away from Cincinnati we had his MRI done on Thursday and spent the night at the Ronald McDonald house that night. We saw his specialist on Friday. Josiah had to be sedated to get his MRI done due to him only being 2 year old. He would not be able to lay still enough for the images to be taken. So the rest of the day he was pretty wobbly and could not get his bearings. Which frustrated him to no end!

Friends of ours who live in KY were actually at Cincinnati Children's on Friday with their oldest for an appt (different type) and we were able to meet up with them! It had been a good 4 years since we last got to see them. We were only able to catch up for about 20 minutes before we had to get to our appt. But it was really nice to see them again.

Dr, Hopkins did find something on the MRI. Smiles has an optic glioma on his right optic nerve. The thickening is not bad right now. So in 3 months we have to go back and get a repeat MRI to see if there has been any changes. We also have to get an eye examination done to check for vision loss, pupil responses, etc.  If there is any changes then Dr. Hopkins will refer us to an Oncologist so they can start Chemo. (they do not want to do surgery unless it is a last resort. If surgery is done then the surgeon would have to remove the optic nerve which would result in blindness in that eye)

If there are no changes then we will go back every 3 to 6 months for MRI's to continue to monitor the tumor.

I am thankful that it was caught so early. This is not the path I would have chosen for us but I need to put my trust in God. We are 3 hours from a hospital that has a research clinic for NF. Which is fabulous and such a blessing. Josiah has not shown any symptoms of the tumor right now which is promising.

 "Trust in him at all times, O people; pour out your heart before him; God is a refuge for us" Psalm 62:8

"Peace I leave with you; my peace I give to you. Not as the world gives do I give to you. Let not your hearts be troubled, neither let them be afraid."John 14:27

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.