Dr. Jennifer Brault recently joined the Vanderbilt Children’s Hospital and Vanderbilt’s Neurofibromatosis Clinic. She is originally from northern Ohio and decided in elementary school that she wanted to be a pediatrician. As her education and training progressed, she specialized in pediatric neurology with a special interest in neuro-genetics. She attended Hillsdale College in Michigan as an undergraduate, before receiving a Master’s Degree in Chemistry from the University of Toledo. She began medical school at the University of Cincinnati and then transferred to Indiana University after two years so that she could live and study in the same city as her husband. After graduating, she remained at Indiana University for residencies in pediatrics and child neurology. During this time, she was drawn to patients with underlying genetic disorders, which prompted her to pursue additional training in Child Neurology and Genetics. During this training, she had the opportunity to work in the Neurofibromatosis Clinic.
When asked about her family’s move to Nashville, she said, “I was pleased to join the NF Clinic at Vanderbilt and help coordinate the care of children with NF in Tennessee. I have a wonderful, supportive husband and two beautiful daughters. We are delighted to call Nashville our home, and we are enjoying making new friends and exploring our new hilly and hot surroundings!”
Q: How did you become interested/involved in NF care?
A: Neurofibromatosis offers the perfect combination for my interests in genetics and neurology. While I was completing my residency, I had the opportunity to work in the NF Clinic at Riley Hospital for Children at Indiana University Health. I enjoyed seeing individuals and families with NF. I enjoy the follow-up care of the children throughout their childhood and adolescence.
Q: What are the most important questions for parents of children with NF to ask a doctor?
A: Receiving a new diagnosis of NF can be scary and overwhelming. I think it is important to get educated, so ask for resources so that you will know what to expect. With NF, it is important to have ongoing screening during childhood for optic nerve tumors, scoliosis, other skeletal issues, hypertension, learning disabilities, etc. Ask about the screening that needs to take place, at what age it starts and how often it needs to happen. Largely children with NF do very well, but it is important to be vigilant and monitor for any changes. Issues like visual loss, new onset seizure, headaches, weakness, chronic pain, unintentional weight loss, change in stooling, or voiding problems need to be carefully assessed; let your doctor know if there are any new issues.
Ask about the risk for tumors. One of the scariest things to deal with in NF is the risk of tumors. In childhood, the biggest concern is for optic nerve gliomas (OPGs). Routine surveillance should be done in young children with NF as soon as they are old enough to cooperate. Recognize that most children with NF do not get optic nerve gliomas (only 1 to 2 out of every 10 children with NF are believed to have OPGs). Even in children who have OPGs, many will not require treatment as the tumors are typically slow growing and benign.
We often get questions about genetic testing. Genetic testing is available for NF but often can be diagnosed clinically. There are some situations where genetic testing may be considered to help clarify the clinical picture. Talk to your doctor about the testing options.
Finally, remember that children with NF are still children. Routine illnesses can be treated in the usual fashion. It is important to remember that common childhood illnesses are (by definition) common and can be treated in the same manner as children without NF. Also, children with NF should receive all of their childhood vaccines.
Q: How can people get involved?
A: Ongoing research and the support of that research are critical for the development of treatments and hopefully a cure. Get involved in the local support groups. Participate in fundraisers and activities on the local and national level. Check out the Children’s Tumor Foundation website (www.ctf.org). You can register your child (and any other affected family members) at this site and report symptoms. This is a national registry of patients so when new research studies are under development you can learn about them and decide if there are studies that are applicable to your family and if the studies are of interest to you.
Q: What kinds of NF related problems in children tend to get overlooked?
A: One of the biggest concerns in pediatric care is academic achievement. Children with NF are at risk for learning disabilities; frank intellectual disability can occur but is less common. Behavioral issues such as ADHD are also more common, which can make schooling challenging as well. Detailed neuropsychiatric testing can be a great tool for schools and families to assess their child’s needs. Not all children with NF have learning issues, so many will not need testing. However, in those who do, testing is important. The testing should help demonstrate where a learner’s talents are, where they may be struggling, and most importantly how they learn best. Having this information allows the schools, teachers, therapists, and families to create an individualized education plan (IEP) to help maximize their achievements in and out of school.
Q: What do you see on the horizon for NF care?
A: At the end of October, I attended the Child Neurology Society meeting. The first day of the conference was dedicated to the care of children with NF. At the meeting, many clinical trials were discussed, but the advances in medications aimed at the treatment of plexiform neurofibromas and malignant peripheral nerve sheath tumors were not discussed. More research needs to be done, but I am excited that there are prospective medications in the pipeline that may help treat symptoms and perhaps help find a cure one day.