Re-Cap of Successful NF Symposium and Plans for 3rd Annual NF Walk
Last month saw another successful annual NF Symposium, held for the first time at the Children’s Harbor Building at Children’s of Alabama on Saturday, August 27th. Co-sponsored by UAB and Children’s Tumor Foundation (CTF), this half-day, free event, also known as NF Family Day, provided an invaluable opportunity for NF patients and families to hear a series of presentations on a range of NF-related topics presented by clinical experts. A special program of activities was provided for the children in attendance, and our NF families also had an opportunity to learn about the range of services available at Children’s Harbor, a non-profit organization that supports seriously ill children and their families through education and counseling services. I opened the Symposium with an introduction to the features of NF as well as an overview of our research initiatives in the NF Program. UAB Professor of Pediatrics and Director of Neuro-Oncology Alyssa Reddy, MD, provided an update of NF-related clinical trials currently in progress, and UAB Assistant Professor of Pediatrics Critical Care Michele Kong, MD, gave an interesting and informative talk on developmental issues in children (not just those with NF). Also, our NF Program Genetic Counselor Ashley Cannon, MS, PhD, CGC, presented the natural history of dermal neurofibromas, followed by Birmingham patient advocate Renie Moss’ review of advocacy, fundraising, and upcoming events. In addition to providing an opportunity for NF patients and families to gain important information about NF, it’s also rewarding to know that this annual event facilitates connections among patients and families that allow them to share their unique challenges, experiences, and concerns.
I also want to mention that plans are underway for another important NF event, the 3rd Annual Alabama NF Walk, which is scheduled for Sunday, October 16th, at 1 p.m. in Veteran’s Park in Hoover. 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. Last year’s event raised more than $73,000 and registered more than 400 participants, which was a significant accomplishment for an event that was launched in our local area only two years ago. We’re pleased that the NF Walk has continued to generate increased interest each year and has become a significant means of raising critical funds to support NF research focused on the development of breakthrough treatments. To learn more about the Alabama NF Walk or to register, visit www.nfwalk.org.
Brief Review of Mosaic NF1
In previous blogs, I’ve referred to the fact that some people have features of NF that are confined to a certain region or segment of the body. A possible explanation for the occurrence of isolated NF features in some individuals is mosaicism, caused by a genetic mutation of the NF1 gene that arises after conception and during early embryonic development. As a result, some cells in the body have the mutation while other cells do not. The area of the body affected may be a cluster of cells in one region, such as an arm or leg, resulting in café-au-lait spots or a cluster of neurofibromas in one region of the body. Because genetic testing for NF1 using blood doesn’t always detect the mutation in people with mosaicism, the best method of diagnosing this form of NF is to perform genetic testing using a biopsy of affected tissues, either neurofibromas or café-au-lait spots.
A question that often arises related to mosaicism is whether there may be features of NF present in the body that are not visible on the surface. In the majority of people with mosaicism, the outward manifestation is the only NF feature that is present, but we do remain vigilant for other manifestations that may occur internally. Unless specific symptoms are present, there is usually no need for imaging to detect tumors.
Another important question related to mosaic NF1 is whether it can be passed to a child at conception. An individual with mosaic N1 cannot have a child with the mosaic form of NF1. However, it is possible for someone with mosaicism to have a child with generalized NF1, in which every cell in the body has the NF1 mutation. If we know an individual has a mosaic form of NF, we can offer prenatal counseling and genetic testing to assist in pre-conception planning.
Neurologic Exam
Continuing our discussion from last month’s blog about what to expect during an NF exam, I’d like to briefly review the components of the neurologic exam. First, mental status is evaluated by determining if the patient is awake and alert and able to understand and speak. For a child, this part of the exam involves an evaluation of developmental status, including a determination of whether the child can talk and follow basic commands in accordance with his or her age level. In addition, we evaluate the function of the 12 cranial nerves, which originate from the brain and brain stem and affect the head and neck. Each nerve has a specific sensory or motor function. For example, the 3rd, 4th, and 6th cranial nerves are responsible for eye movements and could be affected either by neurofibromas or problems in the brainstem related to NF. We also perform a visual assessment to evaluate functioning of the 2nd cranial nerve, the optic nerve, which carries visual information from the retina to the brain. People with NF may develop tumors on the optic nerve, called optic gliomas, that can cause loss of vision and can also affect hormone secretion in the pituitary gland that may lead to early onset of puberty. It’s important for children with NF to have a comprehensive eye exam yearly to check for symptoms of optic glioma.
Also as part of the neurologic exam, we evaluate the strength of the facial and jaw muscles, the tongue, and the neck and shoulders; muscle weakness in these areas may indicate a problem in the brain stem or a tumor on the nerve itself. Next, we evaluate the peripheral nervous system, which involves an assessment of overall muscle strength as well as reflexes and coordination. We look closely for asymmetry of motor strength, which could indicate the presence of a neurofibroma on the nerve as it exists the spine. Abnormal reflexes provide a possible indication that a tumor may be compressing the nerve or the spinal cord. The last component of the exam is the sensory evaluation. Some individuals with NF have symptoms of neuropathy, or peripheral nerve damage, which may include numbness, tingling, or burning sensations usually in the feet and hands.
Director's Blog
Highlights of NF Symposium, Plans for 3rd Annual NF Walk, Discussion of Mosaic NF1, and a Review of the NF Neurologic Exam
- Details
- Written by: Bruce Korf
