Gabby’s Story: Neurofibromatosis of the Rarest Kind

“Today, Gabby is happy, healthy and back to being active with the family again. We prayed for a miracle, and I really believe that our prayers were answered in the form of what is Gabby’s care team at Valley Children’s...they saved her life.””

– Alexandria, Gabby's sister

There are two forms of neurofibromatosis (NF): NF1 and NF2. Both involve changes in proteins that are tumor suppressors. When the protein is abnormal, it is like having a light switch stuck on, forcing the nerve cells to grow out of control.

The rarer of the two is NF2, which is a genetic abnormality in the Merlin protein. When this protein is abnormal, tumors grow along nerves, skin lesions may appear and eye problems may develop. Tumors most commonly found are typically located around the nerves that help with hearing (vestibular schwannomas), spinal nerves, or tumors of the meninges (tissue surrounding the brain and nerves). Patients with NF2 need to be followed by a team of doctors experienced with NF and should have routine surveillance and imaging starting around 10 years of age to monitor for tumors that can be aggressive and life-threatening.

Signs of NF2 can often be overlooked when they present in childhood, especially for children who do not have a known family history of NF2.

This was just the case for Gabby.
 

At 16 years old, Gabby was an active teenager who spent much of her free time with her family and loved playing and crafting with her toddler niece and cousins. One morning at school drop-off, Gabby’s mom noticed her dragging her left leg as she walked from the car. Gabby shared that she felt severe tingling and numbness on her entire left side. That day, school drop-off turned into a pit stop on the way to a local hospital, which later resulted in a transfer to Valley Children’s.

Gabby was diagnosed with NF2 – she had tumors of the rarest kind around her spine and nerves involved with hearing. Her weakness was caused by the development of a cervical meningioma that, if left untreated, would have left her paralyzed from the neck down, in need of a ventilator to breathe, and would likely have taken her life.

There are limited treatment options for patients like Gabby, but we were able to perform a neurosurgical resection and will follow her closely for recurrence and the possible need for radiation therapy,” explained Valley Children’s Cancer and Blood Disorders Center neuro-oncologist, Dr. Audrey Green-Murphy. “While Gabby had some difficulty post-op due to the size of the tumor resection and the need for a ventriculoperitoneal shunt, she has healed and is thriving.”
 

1 in 25,000 people are born with neurofibromatosis type 2 (NF2)

50% of people with NF2 inherit the mutation while the remaining have a spontaneous mutation in the NF2 gene

15 people are born with NF2 each day -- that is a new NF2 patient every 90 minutes

Gabby’s care team includes a neurologist, neurosurgeon and oncologist. Together, they will follow her symptoms, monitor for any changes in her hearing, watch for tumor growth and most importantly, help her continue to heal physically, emotionally and spiritually.

“After Gabby’s second surgery, we got a glimpse of her old self again,” said Alexandria, Gabby’s sister. “And today, she is happy, healthy and back to being active with the family again. We prayed for a miracle, and I really believe that our prayers were answered in the form of what is Gabby’s care team at Valley Children’s...they saved her life.”

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