The Wednesday before Thanksgiving of 2008 was the day we received a call from our daughter’s Pediatrician telling us that a blood test resulted in being positive for Neurofibromatosis type 1, also known as NF1. Jacqueline was 4 months old at the time. As I listened on the phone, I was moved to tears and started feeling paralyzed with thoughts running through my mind. I started blaming myself. What could I have done differently during my pregnancy? Did it happen because I am an older mother?

The reason her Pediatrician suggested we take her to Children’s Neurocutaneous Clinic was because she had more than 6 café-au-lait spots (brown birthmarks) all over her body. I thought nothing of the spots because of her darker complexion. Café-au-lait spots are not the only diagnosis for NF1. There was a blood test that was performed and sent to a lab that specialized in Neurofibromatosis in Alabama. It took 8 weeks to get the test results back.

After our first visit with the Neurocutaneous Clinics at the Children’s Hospitals in Minnesota, we began learning about NF1 and found out it is a genetic disorder. Approximately 100,000 people in the United States have NF1. It affects approximately one in every 3,000 babies. NF1 touches all races and both sexes equally. About half of the all people with NF1 have inherited the gene that causes it from parents, the other half because of a change to the gene. No one in our family has it.

NF1 can cause skin changes as well as tumors (which are typically not cancerous) along the nerves in the body. There are other problems that can occur with NF1 like learning disabilities, high blood pressure, headaches and others that have not been listed.

Jacqueline is currently 2 years old. She has a plexiform neurofibroma on the back of her head, neurofibroma on the tip of her tongue and a slight bowing of her left arm. We are working with the University of Minnesota Pediatric Neurocutaneous Syndromes Clinic Without Walls, Children’s Hospitals and Clinics of Minnesota as well as Mayo Clinic Genetics and Pediatrics area. We also have a relationship with the Children’s Tumor Foundation, and believe we have the best of care for our daughter. Thank goodness the pediatrician discovered it at such a young age.

My goal is to raise my daughter with confidence and a strong personality so if she does have visible tumors she will not be affected too much by the stares. There is currently no cure for it and every case of NF1 is different. It can affect a person very mildly to more extreme manifestations. I guess this is what scares me about NF1, I don’t know what to expect or what is going to happen. When I see photos and learn more about NF1 my heart becomes heavy for families that have been affected by NF1 or will be affected by it.

It has been quite a journey, but I have decided to take an approach of creating awareness and fundraising for neurofibromatosis in the hopes of educating others. Jacqueline does not have to be defined by this disorder, and I hope that sharing our story and experience may help to pave the road towards a cure.