Friday, March 9, 2018

Case Study #49 - Krizelle Researching NF2

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Krizelle Alcantara was a 15-year old Filipino high school junior with a keen interest in science when she was diagnosed with NF2. An MRI scan performed after her parents grew concerned of multiple skin and scalp lesions throughout her body confirmed her doctor’s suspicions: enhancement of both hearing nerves and meningiomas scattered throughout her brain – hallmark tumors of NF2. Although asymptomatic, she underwent gamma knife surgery when she was 18 to stabilize her tumors, including the neuroma on her right acoustic nerve which left hear deaf on that ear. She also underwent surgery at 20 to take out twin tumors involving her right parotid gland and masseter muscle, which were dangerously close to leaving half of her face paralyzed.

Throughout her ordeals, Krizelle’s passion in science never wavered. Routine hospital visits for annual checkups, MRI scans, and minor surgeries, as well as studying genetic diseases in college made Krizelle realize that there is still a lot that is not known about NF2 and how to treat it. Particularly in the Philippines, there are no centers specializing in NF2 patient care, nor are there foundations focused on helping people with NF. This gave her the motivation to finish both her Bachelor and Master of Science degrees in molecular biology and biotechnology, for which she investigated molecular mechanisms that contribute to inactivation of the NF2 gene. She presented the findings of her research at the 2017 NF Conference organized by the Children’s Tumor Foundation in Washington, D.C. She also volunteered as a patient representative in the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) international collaboration, a group which aims to achieve consensus within the NF community about the design of future NF clinical trials. 

As Krizelle says “There are plenty of others in the NF community who have gone through so much more than I have. And it is the resilience and strength that I've witnessed in these people that inspires me to keep fighting and keep living. They are the reason why I am chasing this dream of pursuing research to help end NF. It is not an easy battle, but I know I am not alone in this fight. The real Dream is that one day, no person would ever have to suffer from symptoms or loss of a loved one again due to NF.

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