Raising Funds for the Children’s Tumor Foundation

I am completing this blog post just hours after finishing the New York City half marathon with a team from the Children’s Tumor Foundation.  It was a cold start, but otherwise a beautiful day – a lot nicer than the rain/snow mix the day before.  We were raising funds for the Children’s Tumor Foundation and it’s not too late to add to the dollars contributed.  My fundraising page is at: https://join.ctf.org/fundraise?fcid=674407.  Any help in reaching my goal would be greatly appreciated!

UAB Rare Disease Genomics Symposium Advances Role of Genomics in Everyday Medicine

The fourth annual Rare Disease Genomics Symposium, held March 3rd at UAB, was a successful and well-attended event designed to share information about the role of genomics in the diagnosis and treatment of rare diseases with healthcare practitioners who are non-genetic specialists.  As a rare disorder, NF1 is a condition that benefits from diagnostic and therapeutic approaches used in the management of other rare disorders.  Titled Genetics and Genomics in Day to Day Medical Practice, this one-day seminar covered a range of topics on the application of genomics in medicine.   The Symposium featured a panel discussion led by parents of children with rare diseases that provided insight into the challenges and emotional needs of families of children with a genetic condition. One of the parents on the panel was the newly appointed director of the UAB Hugh Kaul Personalized Medicine Institute, Matthew Might, Ph.D., who provided a personal perspective of the potential of genomic medicine, as his son was diagnosed with a rare genetic disorder in 2012.  The Symposium serves as an important forum for presenting topics to faculty and clinicians at UAB and in the community that demonstrates the increasingly important role of genomic medicine in the diagnosis and management of rare disorders.

Visual Screening in Children with NF1

I’d next like to discuss the issue of visual screening in children with NF1.  As I’ve mentioned previously, the primary concern regarding visual problems is the development of an optic glioma, a tumor of the optic pathway, which occurs in approximately 15% of children with NF1.  Most of the time, these tumors occur early in life, usually between the ages of 18 to 24 months. More than half of patients with optic gliomas have no symptoms. The most common presentation in patients who show symptoms is loss of visual acuity, and/or loss of peripheral vision, although other symptoms may include proptosis, or bulging of the eye; swelling, retraction, or drooping of the eyelid; and the onset of early puberty, which results in abnormally short stature in adulthood.

Although optic gliomas are fairly common in NF1, the majority do not require treatment. Fewer than half of optic gliomas in children with NF1 do progress and require treatment with chemotherapy. An important question for clinicians is how to identify those patients with optic gliomas who need treatment.

The current consensus recommendation for identifying NF1 patients with optic gliomas is to perform a comprehensive ophthalmologic assessment one time per year beginning at the age of diagnosis until late childhood, as the greatest risk for development of these tumors is through approximately the first six years of life.  Ophthalmologic exams – which include tests for visual acuity, peripheral vision, and optic nerve health – are often difficult to perform in young children.  For this reason, some ophthalmologists are testing advanced tools for administering exams in these patients. Sometimes, parents ask whether a school eye exam will suffice, and the answer is that it will not. Appropriate screening for optic glioma and other vision problems in children with NF1 requires a comprehensive eye exam administered by an experienced ophthalmologist.

If concerns arise based on the ophthalmologic exam, a brain MRI scan would be performed. If an optic pathway tumor is found, this may lead to more closely following the child’s visual function and monitoring growth of the tumor using MRI.   If there is radiographic evidence of tumor growth but no symptoms are present, often it is possible to continue close clinical and radiographic follow-up without initiation of treatment. Some of these tumors grow for a period of time and then stop, and in rare cases may even regress.  Because of this, if a tumor does not cause symptoms, treatment may not be necessary. Some clinicians prefer to obtain a baseline MRI scan of the brain in all children with NF1.  I do not tend to do this, since identifying an optic glioma in a child with NF1 using MRI is not in itself an indication to begin treatment if there are no symptoms of tumor growth. We may be missing some optic gliomas by not using MRI as a screening tool, but if we’re not going to treat unless we see symptoms, the value of using an MRI to identify one in an asymptomatic child is unclear.  This is consistent with current consensus recommendations for screening for optic glioma.

In the area of research for optic gliomas, there is an ongoing natural history study that is collecting data on NF patients with optic gliomas to help identify risk factors to predict those who will need treatment and those who will not (http://www.ctf.org/news/the-ctf-and-gilbert-family-nf-institute-opg-consortium-is-underway). Also, because the UAB Medical Genomics Laboratory performs the highest volume of NF genetic testing of any laboratory in the world, we have some limited data on patients with optic gliomas that may be used to identify gene mutations that might be associated with these tumors.  Lastly, our program is exploring the development of more advanced ophthalmologic assessment tools for use in children with NF1.