My daughter Jane was diagnosed as an infant with a rare genetic condition called neurofibromatosis (NF). NF causes tumors to grow on any nerve tissue, among many other complications, and has no cure. She has a large, invasive tumor (a plexiform neurofibroma) on the right side of her head and neck, including her cheek, mouth and ear. It not only affects the function of these organs, leading to medical difficulties; but it affects her appearance, leading to social challenges. There are very few specialists in NF, so we must travel from Connecticut to the National Institutes of Health in Bethesda, MD twice a year for medical testing and appointments. Jane had her first MRI at age 18 months and has had at least 39 MRI sessions in her short lifetime. To manage her tumor, Jane has been in clinical trials with experimental medications continuously since age three. Each medication has been associated with side effects (such as nausea, headaches, rashes, and infections). In addition to her oncologist at NIH, she has regular appointments at home with a neurologist, an ophthalmologist, an otolaryngologist, and a dermatologist.
Jane was one of the first 24 children in the world to take the chemotherapeutic drug selumetinib in its initial trial back in 2014 and has been on this drug ever since. At the time of our visit to your office in 2017, Jane was 10 years old and had been on selumetinib for three years. Since then, Jane’s tumor has shrunk by almost 40% (!) and selumetinib went on to win FDA approval in 2020. Thanks to her treatments, Jane is now 17 years old, is a senior in high school and has just submitted applications to college.
But we still have more work to do. Selumetinib is not indicated for all NF tumors. Despite being on this medication, Jane has needed two major surgeries, at ages 14 and 16, to remove other NF tumors from her jaw, kidney and mouth. But the success of selumetinib is an example of how funding for NF research helps develop life-changing treatments.
I am participating in Steps2Cure NF to raise awareness and support for those affected by NF. The money raised will support the mission of NF Northeast, funding patient support programs, advocacy efforts, and cutting edge research, and will provide hope and help to individuals and families impacted by NF. Every step I take brings us closer to better treatments, increased awareness, and a brighter future—thank you for your support!