Photos and text used with permission of
As the middle generation of a multi-generational Neurofibromatosis type 1 (NF1) family, I’ve dealt with NF from every conceivable angle – patient, parent, daughter, family member. Not only have I been diagnosed with NF, but my brother, son, and niece were diagnosed with NF, and I have lost my father to the disease. Neurofibromatosis has been a part of my life for as long as I can remember. I have seen firsthand the devastation this disorder can bring to a single family.
My father had numerous surgeries to remove tumors, many of them malignant and some the size of footballs. He lost his lifelong battle with NF after the tumors grew in his lungs. I had a pheochromocytoma, a rare type of adrenal tumor, during my pregnancy and was confined to the hospital for several months, and later had a major portion of my stomach removed due to a massive neurofibroma in my stomach wall. My son, Eli, had a craniotomy when he was 8 years old to remove a tumor that had eroded the bone of his eye socket. He has had two subsequent surgeries to remove two tumors near the eyelid nerves, has been diagnosed with learning disabilities, an NF-related aneurysm, and has tumors all up and down the nerve roots of his spine. Despite this, his attitude is "I am not my disease." Having graduated from college with a B+ average, he now teaches elementary school full-time in Las Vegas. Eli has also worked as a professional actor and model, refusing to let NF stop him from doing anything he wants to do.
I have chosen to fight NF by becoming involved in NF organizations for the past 25 years. For many years I was an active board member and president of the Midwest Chapter of Neurofibromatosis, Inc, a chapter in Chicago that my parents helped to establish. As a board member, parent, and someone with NF, sharing my experiences helps both medical professionals and newly diagnosed families understand that having NF does not mean the end of a normal life and brings hope and knowledge to both groups. After moving to the west coast, I took on the same role with NF California, Inc. As part of the NF, Inc. network, I have traveled to Washington, DC to advocate for more research funding for NF to help advance the progress that is being made against this disease.
In 2008 and 2009, I had the honor and the privilege of serving as a consumer peer reviewer for the Neurofibromatosis Research Program (NFRP), and I will have that honor once again in 2011. Serving as a consumer reviewer is one of the most exciting, exhilarating, and awe-inspiring experiences I have had as an NF advocate. To see the progress that has been made as a result of the NFRP is mind-boggling. Twenty-five years ago, NF was thought to be a skin condition by many doctors, consisting of lumps and bumps, if you will. Our family was told that it could only be passed from father to son, and that females do not develop NF. Through research supported by the NFRP we now have not only a better understanding of the NF1 and NF2 genes, but clinical trials have been initiated to mitigate and one day cure the more deadly and devastating manifestations of NF.
Words cannot express my awe and gratitude to the scientists who serve on the peer review panels. They treat consumer reviewers with the utmost respect, listen to our concerns, and invest countless hours studying the applications before the review. As fellow reviewers sitting side by side on the panels, we encourage each other to return to our communities determined to work a little harder for each other – the scientists to find a cure, the consumers to raise more NF awareness and support for these researchers.
The NFRP is truly one of the best – if not the best – neurofibromatosis research program: funding-focused, innovative, and stringently reviewed research. Not only am I honoring my father, my brother, and the many friends who have lost their lifelong battles with NF; I am also shaping a brighter future for those living with NF by sharing my story, advocating for NF research, and participating as a consumer for NFRP.
Last updated Wednesday January 27 2016