There was a time when I couldn't say the word Neurofibromatosis (NF) without crying. My daughter, Elana, was five years old when I first heard it. During a routine check-up, our pediatrician directed us to an NF clinic after he noticed many cafe au lait spots on her body. She was soon diagnosed with NF1 - and this was to be the start of my own personal journey.
Being an attorney who actually likes to do research, I scoured the internet for materials written about NF. I felt overwhelmed, confused, scared.
My first experience at a local NF clinic was devastating. I hardly knew what questions to ask, and I received unsatisfactory answers to the ones I did raise. There was no hand-holding. The support I did find, however, came in an unexpected form. One of the newsletters I picked up at the clinic featured a story written by a local mother who also had a young daughter with NF. I immediately called the editor and asked her if she would connect me with that mother - and she did. The author of the article became a wonderful resource and, ultimately, a friend. She directed me to a different NF clinic run by an outstanding physician. Additionally, I was introduced to the local and state chapters of NF, Inc., an organization dedicated to serving families affected by NF.
My involvement in the organization at the state level provided me with learning opportunities. I began attending the group-sponsored seminars to hear presentations by experts in NF. At the first one I attended, I sat in the back of the auditorium, shaking with tears as I listened to the speakers. I'll never forget being consoled by a perfect stranger, another mother, sitting next to me. The following year I attended a second seminar - this time, I was the one who consoled other tearful mothers.
Being involved in a national organization focusing on NF has broadened my experiences and my perspective. I have stocked my "NF library" with informative materials produced by interest groups in other regions. I receive regular updates on NF-related experiments, speakers, and funding. I communicate with like-minded people from around the country when I have a concern, and in turn, I reach out to others who have questions. I feel connected.
My involvement in the NF non-profit world has also helped me to become knowledgeable about NF research. I have participated in two peer review panels sponsored by the Department of Defense's Congressionally Directed Medical Research Programs. My role as a consumer reviewer was to read the summary of the research proposed and comment on the impact it would have on the NF community. I was privileged to interact with scientists and medical professionals committed to studying NF, and I felt that my input was valued. I had no idea before I went through the process that so much progress has been made and that clinicians all over the world are working toward finding a treatment and cure for NF! It is because of my experience as a consumer reviewer that I am hopeful.
I still cry once in a while when I use the word Neurofibromatosis in connection with my daughter, but I have come a long way. Elana is an active pre-teen now - smart, funny, challenging, and my greatest joy. By educating myself, becoming involved in patient outreach, networking with other parents, participating in advocacy programs, and keeping abreast of research, I can feel satisfied that I am doing everything in my power to provide her with the best care possible.