Gabby’s Story: Valley Children’s Provides Hope & Healing with Specialized Care for Rare Diagnosis

One morning near the beginning of the 2021 school year, 16-year-old Gabriela “Gabby” Perez was walking into school in Parlier, CA, when her sister, Alexandra Toscano, noticed something wasn’t right. Gabby was dragging the left side of her body, and her arm and leg felt numb. The school called her mother who picked up her daughter and rushed to Valley Children’s Hospital, where they soon learned Gabby had a rare disorder called neurofibromatosis type 2.

What is Neurofibromatosis (NF)?

NF is a genetic mutation that causes tumors to grow on nerve tissue anywhere in the nervous system. It is most commonly diagnosed in childhood or early adulthood and affects one in every 3,000 children. There are three types of neurofibromatosis, each with different signs and symptoms:

• Neurofibromatosis type 1 (NF1) typically causes skin changes and bone deformities.
• Neurofibromatosis type 2 (NF2) leads to hearing loss, ringing in the ears, and poor balance.
• Schwannomatosis, the rarest type, causes intense pain.

The genetic mutations that cause the disorder can be either inherited or spontaneous. NF2 – Gabby’s condition – is more difficult to diagnose, due to a lack of outwardly visible symptoms, such as the flat, light brown spots on the skin – also known as “cafe-au-lait” spots, characteristic of NF1.

Treatment for all three types of NF focuses on managing symptoms, as there’s no actual cure. The tumors are most often benign but sometimes can become cancerous. Treatment strategies include regular monitoring of tumor growth and neurological function, surgery to remove tumors causing pain or functional problems, and medications to control pain. In Gabby’s case, her treatment required all three interventions.

Doctors at Valley Children’s discovered she had a large number of tumors all along her spinal cord and two on her auditory nerves that were impacting her ability to hear. A large tumor compressing her spinal cord was causing the numbness and could eventually threaten her ability to breathe, regulate her heart rate, or move her extremities.

Specialized Care Makes a Difference

Valley Children’s Neurocutaneous Syndromes Clinic is one of only 60 centers in the country that is part of the National Neurofibromatosis Clinic Network, established by the Children’s Tumor Foundation. Part of Valley Children’s nationally recognized Cancer and Blood Disorder Center’s Neurofibromatosis (NF) Program, Valley Children’s is only the fourth hospital in California with this designation, which is granted only to programs dedicated to improving clinical care and establishing best practices for individuals with NF.

This specialized care, so close to home for Gabby and her family, was welcome news for Gabby, since the treatment plan for NF often involves a team of specialists tailored to the individual’s specific needs and symptoms. Thorough evaluation of a child suspected to have any form of NF involves a combination of genetics testing, innovative therapies, newly FDA-approved medications, and specialized screening services – all of which are available at Valley Children’s.

“When our program launched in 2020, we had ambitious goals in place to benchmark our standard of excellence and ensure the best care for kids in the Central Valley,” said Dr. Merveen Appu, Valley Children’s Pediatric Neurologist and Neurocutaneous Syndromes Clinic Director.

“Our patients with neurofibromatosis undergo surveillance imaging and subspecialty evaluations and have the opportunity to discuss their questions with the appropriate specialist – all here, in one location – making us a true multidisciplinary clinic and easing the burden of families traveling far for care.”

Dr. Appu

Since its inception in 2020, Valley Children’s Neurocutaneous Syndromes Clinic has treated approximately 200 children with NF annually, tailoring treatment to the individual needs of each child.For Gabby, this entailed surgery to remove the large tumor pressing on her spinal cord, a shunt to stop a troublesome spinal fluid leak that caused headaches and dizziness, pain management and intensive physical therapy.

Hard Work, Hope and Ongoing Support Are Keys to Recovery

Gabby’s hard work, combined with the expertise of the team at Valley Children’s, paid off and today Gabby is a healthy 18-year-old. Valley Children’s continues to advance the treatment of NF, and to build strong support networks for NF patients and their families, to aid in their ongoing physical and emotional recovery – for Gabby and other patients who may find themselves in a similar situation.

Valley Children’s is here to care for them, just as we were privileged to care for Gabby.