There's Nothing Wrong with His Face, What's Wrong with Your Manners?

By Lisa Kroulik © March 24, 2011

The first time my father met my husband, he whispered to my stepmother, “What's wrong with his face?” Now, there's a fine how do you do. Not “nice to meet you.” Not “so what do you do for a living?” No attempt at getting to know the person first before noticing his inherited skin disease. Unfortunately for my husband, Darrell, and his two brothers, my father's reaction upon meeting him was more typical than it should be. People notice the disease first and the person later.

Neurofibromatosis, hereby referred to as NF since I can never remember how to spell it, is a genetic disorder that causes tumors to grow in the nervous system. Darrell and my two brothers-in-law inherited the disorder from their father, who died at the age of 59. Nerve tissues grow tumors, or neurofibromas, that are usually benign (abnormal tissue masses that are not cancerous) but can also cause significant damage by compressing nerves and other tissues in the body. Cases range from mild, with just a few small tumors, to severely disfiguring. If you have ever heard of the “Elephant Man", he was thought to have NF, although there are other theories circulating as well.

There are three types of NF, referred to as NF1, NF 2 and Schwannomatosis. NF1 is the most common type and the one I will be focusing on for this article. More information about NF2 and Schwannomatosis can be found by following the link at the end of this article.

In order to make a diagnosis of NF1, two or more of the following symptoms must be present:

• six or more light brown spots on the skin (often called “café-au-lait” spots), measuring more than 5 millimeters in diameter in children or more than 15 millimeters across in adolescents and adults;
• two or more neurofibromas, or one plexiform neurofibroma (a neurofibroma that involves many nerves);
• freckling in the area of the armpit or the groin;
• two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas);
• a tumor on the optic nerve (called an optic nerve glioma)
• abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin);
• a parent, sibling, or child with NF1.

Physically, a person with NF1 may have a larger than normal head circumference and short stature. Darrell affectionately refers to himself as a melon head and he is 5'7" tall. However, his father, Don, was only 5'4", although I understand that he was larger than life in person

In addition to the tumors and resulting social isolation, people with NF are also at risk for Hydrocephalus, an abnormal buildup of fluid in the brain. This makes them prone to headaches and at higher risk for also developing epilepsy. Cardiovascular concerns include congenital heart defects, high blood pressure or damaged blood vessels. Learning disabilities, poor language skills and visual-spatial skills are more common in people with NF1 than the general population. Up to 5 percent of the tumors may become cancerous at some point and will require treatment. As I previously mentioned, my father-in-law, who died 22 years ago and who I never had the pleasure of meeting, developed cancer as the result of having NF1.

Symptoms generally appear before the age of ten. NF1 is a progressive disorder, which means that it worsens over time. People with mild to moderate NF1 have a normal life expectancy.

Surgery is generally not undertaken for strictly cosmetic purposes. A doctor would only recommend surgical removal of the tumors if they threatened to become cancerous, and at that point, radiation or chemotherapy would also be considered. Since NF1 is known to affect vision, these methods may also be used to reduce tumors in the optic nerve. My husband has very poor vision and has worn strong prescription glasses since he was two years old. He also has a lazy eye which was never corrected by wearing a patch as a child.

For a person with noticeable NF1, social isolation is the greatest casualty of their disorder. My husband and I did not meet until he was 45 years old, and his two brothers, both older than him, remain unmarried. People can initially react with repulsion when they meet someone with NF1 and wonder not only what is “wrong” with their face, but their hands, arms, neck and legs as well. (And that's just the part that is visible.) Facing such ignorant reactions time and time again can cause a person to isolate, which can only contribute to depression and lack of social skills.

It takes a strong faith to live with NF1 and I am proud to be married to a man of such strong character. He has never given into self-pity or asked “why me?” He had resigned himself to being single for life when God laid it on his heart to pray for a wife. He was rejected several times before meeting me. I did notice his NF, but having no idea what it was, I paid no attention to it and got to know the real person. The hope and joy this brought to his family was amazing, but humbling. I did nothing special beyond recognizing the gift God gave to me in Darrell. He is my hero, and I am the lucky one.