The month of August neared an end with yet another successful and memorable Neurofibromatosis Symposium held at the UAB Hugh Kaul Genetics Building on August 29th. Also known as NF Family Day, this half-day, free event co-sponsored by UAB and the Children’s Tumor Foundation (CTF) provided NF patients and their families with valuable information through a series of presentations given by clinical experts on a range of NF-related topics. We were especially pleased to have 100 people registered for the Symposium, which marks the largest attendance for the event to date. A unique highlight of NF Family Day this year was a special program designed for the children in attendance, provided by our genetic counseling students, that included special materials donated by the Homewood Library as well as an exciting and memorable visit by members of the Birmingham Fire Department replete with an authentic fire truck the children could tour during our lunch break.
To begin the Symposium, I gave an overview of neurofibromatosis including information about each of the three types of NF, a general summary of current research findings, and the role of genetic testing. Some families in attendance may have heard this information previously while for others, especially those facing a new diagnosis, it may have been new. Alyssa Reddy, MD, director of the Children’s Hospital of Alabama Neuro-Oncology Program, explained UAB’s dual role as both the national coordinating center for the NF Clinical Trials Consortium and one of the national patient recruitment sites for clinical trials. She also provided an overview of her efforts in recruiting patients for NF-related clinical trials and explained enrollment criteria and the informed consent process. In addition, Dr. Reddy discussed some of the latest treatment options for specific NF tumor types, such as optic gliomas and plexiform neurofibromas. Continuing with information about the NF Program’s robust research initiatives, graduate student Ashley Turner, MS, summarized her work in the NF laboratory developing mouse models with human NF mutations in order to test compounds that might prove effective in treating tumors; this research serves an important foundational step in the drug discovery process by helping to identify potential drugs that could be tested in future human clinical trials.
Our new NF Program genetics counselor Ashley Cannon, PhD, MS, CGC, presented information about NF-related learning disabilities and explained the process of navigating the often complex terrain of establishing IEP and 504 plans for school-aged children. Dr. Cannon stressed to parents that while NF-related learning disabilities and difficulties most often become evident in school-aged children, learning challenges do not go away as children move into adolescence and adulthood; instead, people with NF can struggle with learning difficulties throughout their lives, particularly if they do not receive appropriate educational services during early childhood.
Also, Dr. Cannon provided information about the NF registry (https://nfregistry.patientcrossroads.org) established by CTF in 2012 and provided attendees the opportunity to join while at the Symposium; the purpose of the NF Registry is to help notify NF patients who may be eligible for clinical trials or other research studies and to determine the frequency of specific NF characteristics. Next, UAB Associate Professor of Anesthesiology and pain expert James Weisberg, PhD, discussed pain management for NF patients, emphasizing the need to utilize a holistic approach in treating pain that incorporates medication with cognitive-behavioral therapies.
To close the program, well-known patient advocate and Birmingham parent of two children with NF, Renie Moss, presented information on patient advocacy while Kristen Stanley from CTF spoke about the work of the organization and upcoming events. The annual NF Symposium, in addition to providing patients and families with an important forum about NF-related topics, also serves to help NF families establish supportive connections with others facing similar challenges and concerns. We find it rewarding to have the opportunity to facilitate these two meaningful purposes through this event.
As I mentioned in a previous post, I often receive questions from patients asking why clinical trials focus on plexiform neurofibromas, while there are no clinical trials in progress for dermal neurofibromas. Part of the reason is that the complications of plexiforms are often more medically serious than for dermal neurofibromas and can sometimes be life-threatening. However, some good news to share is that our program recently submitted a grant proposal for a dermal neurofibroma clinical trial; although it will be a while until we know if we will receive funding, our program is committed to actively pursuing clinical trials of dermal neurofibromas.
Director's Blog
A Successful and Memorable NF Family Day and Plans for Future Dermal Neurofibroma Trials
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- Written by: Bruce Korf
