Emma E. | 2025 All Star | Connecticut Children's Foundation

An inoperable brain tumor—and a big heart

Emma was nearly two years old and still not walking. Her pediatrician referred her to Connecticut’s Birth to Three program, where she was diagnosed with a gross motor delay and prescribed physical therapy. She eventually began walking and aged out of Birth to Three, but she continued to have gross motor challenges. When x-rays determined that her bones and joints were fine, her parents took her to neurologist William Graf, MD, at Connecticut Children’s Specialty Care Center in Westport.

“He was the first who told us that she had an abnormally large head size, which you would never know because she has beautiful blonde hair,” said her mother, Kate. “When you look at her, you don’t think, ‘Wow, she has a big head.’” Dr. Graf also noticed that Emma had café au lait spots, light brown pigmented patches on her skin. Based on these signs, he recommended genetic testing.

A rare genetic condition called Neurofibromatosis Type 1

Genetic testing confirmed Dr. Graf’s suspicions. Emma had neurofibromatosis type 1 (NF1), a genetic condition that can cause a range of complications, but initially, the only concern for Emma was her gross motor delay. Then, in October 2023, when Emma was in first grade, she became very sick with severe vomiting, headaches, and significant decrease in her visual acuity. When she didn’t recover, her pediatrician suggested going to Connecticut Children’s for further evaluation. “Pack a bag. You might be there a while,” Kate remembered the doctor telling her.

They spent six days at Connecticut Children’s. “That was a very, very difficult week,” Kate said. “But that’s when we got the absolute best care we could ever have asked for.” That’s when they met neurosurgeon Jonathan Martin, MD, FAANS, Division Head, Neurosurgery, and neuro-oncologist Evan Cantor, MD, Director of Neuro-Oncology in the Center for Cancer and Blood Disorders. Emma had an optic pathway glioma, a type of brain tumor that forms around and near the optic nerve. The tumor was causing hydrocephalus (a buildup of fluid in Emma’s brain), so Dr. Martin placed a ventricular shunt to drain the fluid and performed a septostomy to improve the flow of cerebrospinal fluid in her brain.

Because the tumor is in the third ventricle, it is inoperable.

It was Dr. Cantor who helped us make the plan for how we were going to handle the tumor, moving forward. The shunt helped the hydrocephalus immediately, but we needed a long-term plan for the optic pathway glioma."
Kate, Emma's Mom

Emma began an oral therapy called selumetinib, which she’ll take for two years.

Helping others understand her condition

Today, Emma is in the second grade and feeling much better. Her vision is impaired, but has improved. To help her classmates understand her condition, Emma and her teacher read a book to the class about NF1 and Emma fielded questions afterward. Despite her limitations, she finds joy in a wide range of activities—from adaptive soccer and hide-and-seek with her younger brother and neighborhood friends, to art and playing with her American Girl doll. She’s also a big Mets fan and dreams of being a baseball announcer when she grows up. Until then, she’ll keep practicing at neighborhood whiffle ball games.