Monday, March 19, 2018

Case Study #50 - Amy Creating a Planter Box

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“Hey, there’s Amy ‘My Face is Exploding’ Young!” That’s what some classmates called Amy Young-Ames Reay during her senior year of high school when enormous bumps grew on her face out of nowhere. Amy laughed it off because she grew up in a household full of teasing, sarcasm and jokes, and knew the kids meant no harm. But at the same time, her face was in excruciating pain and the bumps sometimes burst which everyone thought was disgusting. The doctor said it was cystic acne though she later learned those were her first tumors in her nerve endings. 

After high school, Amy had a series of tumors develop and had them removed surgically but was given no explanation. When she was 21, she began having debilitating migraines and balance issues which led to finding her first brain tumor. After it was surgically removed (leaving her deaf in her right ear) and ruled an acoustic neuroma, Amy still was not diagnosed and was scared of the unknown. “What was happening to me?” she wondered. 

A few uneventful years followed and then it was like a storm hit. So many symptoms developed. MRIs found bilateral acoustic neuromas and a spine full of tumors. Amy landed in Boston and was finally diagnosed with Neurofibromatosis type 2 at age 29. Another brain surgery then spine surgery, leg surgery, neck surgery, shoulder surgery. At this point, she has lost count. Two more acoustic neuromas came back so they tried gamma knife radiation twice hoping to save her hearing, but that failed. Fast forward to today: Amy is deaf, has 7 existing brain tumors, 14 spine tumors and more peripheral tumors than she can even count. She has a cochlear implant for sound though there is not enough clarity to understand spoken words. Amy lives with nerve pain every day, frequent headaches, balance issues and deafness. 

But, she is also happy and living a wonderful life. Amy says she is surrounded by many people that she loves that love her right back. She never has to fight this alone. She has her Hearing Dog Delancy by her side always. She is grateful to be alive and thriving. Amy often says, “I may have NF2 but NF2 doesn’t have me.” If anything, Amy feels this illness has made her a better person, more grateful for the little things and with a keen understanding that life is short, be happy. She fights back against Neurofibromatosis by being an avid supporter and participant in Cupid’s Undie Run. She and her team have joined the Boston run and for two years in a row, have been the 3rd top fundraising team. She is personally the #2 fundraiser for Boston and is so proud of that! It’s important to her that she has a good time while making a difference. Cupid’s personifies everything Amy is about....”I want to be known as a fighter but also someone who never forgets to laugh.” I’ve learned throughout my life that crying changes nothing. You have a choice: let illness destroy you or overcome, living your best life. I choose the latter.

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.