In early 2018 I received the devastating news that my son, A.J., has a genetic disorder called Neurofibromatosis Type 2 (NF2). That was the start of the darkest and hardest time of my life. My 6 year old angel, the love of my life, was just sentenced to a lifetime of pain, dangerous surgeries, disability or worse. I’m a physician, I’ve spent 25 of my 40 years on this earth training to save lives and there is nothing I can do to save this innocent child? No parent, no person, should ever have to experience the heartache of such a diagnosis.
This devastating disorder affects approximately 1/30,000 individuals, and causes progressive growth of tumors throughout the central and peripheral nervous systems throughout life. The hallmark of NF2 is bilateral vestibular schwannomas (formerly known as acoustic neuromas) which result in deafness in more than 95% of NF2 patients. Many other tumors accompany the disorder, and loss of balance, paralysis, and blindness often occur by the time a person reaches their 20s. There is no treatment other than surgery and radiation, which themselves cause significant morbidity.
I wanted to curl up in a ball and wish the world away. But the feel of his sweet little hand holding mine, the look on his face when he says “I love you mama,” the way he watches the Phillies play and tells me it’s going to be hard when he is on the team to choose what position to play because he loves pitching and first base, and the way he talks about the three kids he wants to have forced me out of that ball and put a fire in my belly like no other. I have to save my son, there is no other greater purpose that a mother could be called for. I opened my eyes and for the first time knew what my intended my purpose on this earth is.
One month later I started the process of founding a nonprofit organization called NF2 BioSolutions. I refuse to sit back and watch this disease take my son's livelihood and perhaps his life. So, with other NF2 families, I started a 501(c)3, nonprofit organization this summer to support and fund gene therapy research for NF2. It’s just destroying me to know that the science to save my son exists but it’s not being developed because of lack of funding. After extensive literature reviews and speaking to many experts, we found a researcher who has excellent data in mice using a gene therapy technique that induces death in tumor cells with minimal damage to the underlying nerves (which are always severely damaged or destroyed with surgery and radiation). Our goal is to raise $1 million to fund a toxicology/safety study for this gene therapy program before the FDA will consider letting us bring this work to a phase 1 trial (which will cost another $4 million). With the appropriate funding, this therapy could be in human trails in 14 months per the most recent proposal from the Translational Medicine Group at MGH, a group that specialized in bringing pre-clinical data to human trials. This is not a pipe dream, its within reach and every little bit helps. As a healthcare provider it is beyond me how a price tag can be put on childhood disease, how is there not funding for this?
We are run 100% by volunteers affected by NF2, and every penny goes to the research to end it. Please help me save the life of my baby.
This is a story that had been repeated many times in the rare disease world in a broken healthcare system. Devastated parents and patients are left to fight for their children’s lives by raising money to fund treatments. I have met many other parents of children in similar situations who felt the same way when they found themselves with a child diagnosed with a rare genetic disorder. Many of them also chose not to sit back, they fought and many have succeeded in raising the needed funds and getting their children into gene therapy trials with notable success. Their successes motivated me to fight for A.J. in the same way.
More information about NF2 BioSolutions: Mission: We are a non-profit organization (Tax-ID 83-0940046) seeking a cure or preventative treatment for NF2 by vigorously supporting and advancing existing and next-generation biomedical technologies, such as gene therapy and immunotherapy. Vision: We envision a world where those living with NF2 will have access to cutting-edge solutions to live full and productive lives, free from daily physical and emotional pain or suffering.
- Julius Heyman
- Scott Rembisz
- Mason Mcvay
- Jorge Marban
- Aaron Arboleya
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