Team Approach, Early Intervention Save Girl's Sight
Sitting in her pediatrician's office in June 2002, Ann Jongsma watched the doctor count small brown spots on her two-month-old daughter, Jenna.
"When the doctor reached eighteen spots, I guessed I would be taking Jenna to a dermatologist," says Mrs. Jongsma. "Instead, I was referred to a neurologist at the University of Chicago Medicine Comer Children's Hospital, because the pediatrician suspected that Jenna had neurofibromatosis."
Neurofibromatosis type 1 (NF1) causes hyperpigmented spots on the skin and may lead to a wide variety of additional problems including tumors on nerves. It is one of the most common neurological genetic disorders. One in every 3,000 babies is born with NF1. Like Jenna, most patients first present with café-au-lait spots. Other complications of NF1 can occur later including small subcutaneous neurofibromas and Lisch nodules of the iris in teenagers and young adults. NF1 may also cause problems with bone growth, learning disabilities and short attention span.
James Tonsgard, MD, associate professor of pediatrics and neurology and director of the University of Chicago Ambulatory Program for Neurofibromatosis, saw Jenna shortly after the visit to her pediatrician.
"Jenna had multiple café-au-lait spots, one of the major criteria for the diagnosis of NF1,"says Dr. Tonsgard. "I suspected that she had NF1 and immediately started her on a protocol of regular exams to check her vision, hearing, spine, long bones, blood pressure, growth and development."
In January 2004, Jenna's ophthalmogist, Michael Kipp, MD, a former University of Chicago medical student and faculty member, now a full-time staff member at the Wheaton Eye Clinic, saw a mild pallor on Jenna's right optic nerve and a preference for using her left eye. Her vision was normal, but an MRI revealed an optic nerve glioma.
At that time, Charles Rubin, MD, associate professor of pediatric hematology/oncology and director of the Brain and Spinal Cord Tumor Center at Comer Children's Hospital, was asked to join the team treating Jenna.
"Because Jenna had no functional compromise of her vision and because an optic glioma is a low-grade tumor that does not necessarily affect vision, we decided to take a 'wait and see' approach," said Dr. Rubin. Jenna was monitored very frequently with eye exams and regular MRI scans.
Ten months later, in October 2004, Dr. Kipp saw Jenna and noted worsening of her vision. The team decided to treat the tumor with chemotherapy. After receiving twelve months of therapy, Jenna's tumor size decreased, and her vision improved.
"We feel so lucky that Jenna's tumor was detected when it was asymptomatic," says Mrs. Jongsma. "Because of early intervention and research, our daughter is more likely to enjoy a lifetime of normal activities."
Because signs of NF1 vary significantly from patient to patient and can develop as people grow, Jenna will continue to be monitored closely by all the physicians involved in her care.
"Jenna has had fifteen MRIs and two surgeries at Comer Children's Hospital," says Mrs. Jongsma. "Because the doctors, nurses and Child Life specialists made her feel her so comfortable through all of her procedures, she looks forward to her visits."
New Research Directed at Diagnosis and Treatment of NF
The University of Chicago Medicine Comer Children's Hospital is one of nine centers in a newly formed consortium devoted to the understanding and treatment of the complications of Neurofibromatosis. The government-funded Neurofibromatosis Research Program (NFRP) is currently focused on development of new drugs for optic pathway tumors, plexiform neurofibromas and malignant peripheral nerve sheath tumors. Another focus is on the neurocognitive disabilities caused by NF1. Clinical trials will be opening soon and will be available to patients.
The Neurofibromatosis Program at the University of Chicago is one of the only programs in the country that treats both adults and children. The benefit is that one physician can care for a family affected with NF1; and that physician can follow the child's progress through adulthood. Throughout its 20 year existence, the program has attracted highly specialized physicians such as Dr. Rubin, Dr. Kipp and Mark Greenwald, MD. The physicians of the NFRP have extensive NF1 experience that enables them to anticipate complications and begin appropriate early intervention.
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Jenna's story was originally written in fall 2007. We caught up with her again in December 2012.
When Jenna was seven, the optic gliomas in the nerves behind her eyes started growing again. A second round of chemotherapy at Comer Children's Hospital shrank the tumors, this time restoring most of her vision.
Thanks to the University of Chicago women's varsity softball team, this course of treatment was easier for Jenna than her earlier therapy. "The players adopted Jenna as an honorary team member and came to all of her appointments," explained Jenna's mom, Ann. "Jenna went from dreading chemotherapy to saying, 'I can't wait until my next chemo.'"
Now ten-years-old, Jenna sees Dr. Rubin every three months. Her regular assessments include a physical check-up, vision testing and MRI scans. "Jenna's tumors have quieted down and are stable," said Dr. Rubin. "We no longer need to treat the condition as an acute problem that threatens her vision."
Today, Jenna attends the fifth grade where she excels in English and plays the tuba in the school band. Jenna also participates in a local theater group where she recently performed in Fiddler on the Roof.
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