I’m pleased to report that the 2nd annual Alabama NF Walk, held on October 18th in Veterans Park in Hoover, was a huge success both in terms of fundraising and attendance. The purpose of the event is to raise funds for the Children’s Tumor Foundation (CTF), the major source of patient advocacy and research support for all forms of NF in both children and adults.  This year’s NF Walk raised more than $73,000 and registered more than 400 participants, a significant accomplishment for this important event that was launched in our area only one year ago by Birmingham resident Renie Moss, a dedicated patient advocate and mother of two children with NF.  Through the tireless efforts of the Moss family, as well as other Birmingham families who have been affected by NF, the Alabama NF Walk has become a significant fundraising event in our area that supports critical NF research focused on the development of breakthrough treatments.

As part of our NF Clinic’s ongoing efforts to maintain a patient-centered focus, the newly formed NF Community Advisory Board held its first meeting at the Kaul Human Genetics Building last month.  Comprised of NF patients and family members, the primary purpose of the Board is to provide valuable feedback to ensure the NF Clinic is functioning in a way that best meets the needs of our community.  Due to the collective expertise and experience of our NF Clinic specialists and staff, I’m confident that our patients are receiving the highest level of NF care available.  However, we also want to ensure that our patients have the best possible experience in our Clinic with respect to patient information, education, support, and coordination of care. The Board, which will meet three or four times a year, will maintain an emphasis on community outreach and education regarding NF and the clinical and research programs available at UAB.  In addition, the Board will serve an integral role in helping to organize the NF Symposium for patients and families, including providing insight and guidance about topics and speakers to be included. Other goals for the group include identifying any needs that are currently not being addressed by our NF program and offering advice to our program leadership to help make the NF Clinic as strong and responsive as possible. Also, the Board will explore the development of smart phone and tablet apps to assist patients in documenting and storing information about their own care that can also be shared with clinicians to expedite communication and enhance patient care.  These and other initiatives will serve to improve our patients’ experience in the Clinic and ensure that our NF program continues to maintain our commitment to meeting patients’ needs in every area.

One final point:  More than 10 years ago, while I was still in Boston, we produced a video of a counseling session with a family regarding the new diagnosis of NF1 in a child.  It can be viewed online at www.understandingnf1.org.  We have gotten a lot of good feedback about the video over the years, as many families have found it helpful to understand the many issues that arise with a new diagnosis of NF1.  A lot has happened in NF research – genetic testing and clinical trials, for example – since the video was done, and therefore I’d like to redo it and include this new information.  The couple who were featured in the video actually do have a child with NF1, though this was not really their first time hearing about it.  It works best to have a couple with a young child who has been diagnosed in the relatively recent past.  If anyone reading this would like to consider working with us on this, please let me know (bkorf@uabmc.edu). 

Plans are in place for the 2nd annual Alabama NF Walk in Birmingham to raise funds for the Children’s Tumor Foundation (CTF), the major source of patient advocacy and research support for all forms of NF in both adults and children.  This year’s event will be held on Sunday, October 18th, at 1 p.m. in Veterans Park located in Hoover.  For more information or to register, visit the following page on the CTF web site:  www.nfwalk.org/alabama.  Last year’s inaugural NF Walk was a landmark event for our city and a huge success, raising more than $50,000 for CTF.   Birmingham resident Renie Moss, a dedicated patient advocate and mother of two children with NF, spearheaded our local NF Walk last year in conjunction with CTF.  Working with other Birmingham families who have been affected by NF, the Moss family continues to play an integral role in organizing and publicizing this important event that supports critical NF research focused on the development of breakthrough treatments. 

Next, I’d like to discuss the role of genetic testing in diagnosing NF and explain when it can be useful. The UAB Medical Genomics Laboratory, directed by Ludwine Messiaen, Ph.D., offers clinical genetic testing for all forms of neurofibromatosis and Legius syndrome, as well as a group of related disorders collectively referred to as the “rasopathies.”  In 2003, Dr. Messiaen launched the first routine, reliable, and affordable clinical genetic test for NF1 that has the capability to detect more than 95% of the mutations in persons who fulfill diagnostic criteria. Prior to the development of this test, it was difficult to perform testing for NF1 because of the vast number and diversity of the mutations involved, of which there are thousands. Because of her pioneering efforts, the UAB Medical Genomics Laboratory run by Dr. Messiaen is viewed in the medical and scientific communities as the gold standard for NF genetic testing. The laboratory offers the most scientifically reliable, leading-edge genetic testing currently available for the diagnosis and characterization of mutations in NF1, NF2, and schwannomatosis and performs the highest volume of neurofibromatosis genetic testing in the world.  The laboratory has performed more than 7,000 NF1 tests and has identified more than 3,000 different NF1 mutations. Dr. Messiaen and her colleagues were also able to discover a new gene, designated LZTR1, responsible for some cases of schwannomatosis.

Several factors are involved in determining when genetic testing can be useful to patients with neurofibromatosis. In most cases, a diagnosis of NF1 is made clinically, based on the presence of two or more of the seven NIH criteria for the disorder.  In some cases, however, a clinical diagnosis of NF1 may be inconclusive or needs to be confirmed, and here genetic testing can be very helpful. For example, if a child has café-au-lait spots and no other clinical features, genetic testing can be used to confirm an NF diagnosis and also to rule out Legius syndrome (which can cause the appearance of café-au-lait spots but not the tumors that are characteristic of NF1).

In addition, there are some cases in which particular mutations predict certain features of NF; for example, a whole gene deletion predicts a more severe course of the disorder and there are a few other mutations that predict a mild course.  People who have an unusual presentation, including either isolated or severe features, can also benefit from genetic testing to determine if an NF1 mutation is involved.  Finally, identification of an NF1 mutation can make it possible to offer prenatal testing to determine if the mutation has been passed on to a fetus who is at risk based on the mother or father being affected.

One additional interesting point on genetic testing for NF has recently emerged.  There is evidence that individuals with NF1 are at increased risk of breast cancer – not to the extent of those with mutations in genes such as BRCA1 or BRCA2, but still at a greater risk than the general population.  For this reason, many companies offering genetic testing to persons diagnosed with breast cancer are including a test for NF1 on their genetic testing panel, and a few examples of people with unexpected NF1 mutations have been found. Some of these are likely to be people who actually have neurofibromatosis but had never realized they were affected. Others may have few signs or symptoms, making the finding a real surprise. It remains to be seen how this is explained, and it represents a new area of research in neurofibromatosis genetic testing. 

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.