NF2 BioSolutionsAccelerating Gene Therapy Research and Finding a Cure for Neurofibromatosis Type 2

By Nicole Henwood, MD


Four years ago, the path of my post-residency life unwillingly and dramatically changed course. In 2018, my son A.J. was diagnosed with Neurofibromatosis Type 2 (NF2). He was a happy and energetic 6-year-old boy who loved playing baseball and Minecraft, adopting animals, and was dreaming of becoming a Philadelphia Philly one day. I had noticed a small white patch of skin on his thigh when he was born, and a few years later two darker-colored cafe-au-lait spots, but I was reassured there was nothing to worry about. When he began school, the school nurse noticed his vision was slightly decreased at 20/30, but I thought all he needed was glasses. We went for an ophthalmology visit and unfortunately that day we were referred to a Will’s eye cancer specialist who suspected the “freckle” seen on his retina, along with the patches on his skin, were caused by NF2—a rare disease without a cure. His diagnosis was confirmed a few weeks later by MRI, and that day became the worst day of my life.


Neurofibromatosis Type 2 is a rare genetic disorder that affects approximately 1 in 30,000 individuals globally which classifies it as a rare disease. NF2 uniformly results in the growth of multiple tumors throughout the central and peripheral nervous systems, including schwannomas, meningiomas, and ependymomas. Over time, these tumors severely impact the quality of life of affected individuals, causing hearing loss, severe balance problems, facial paralysis, visual problems, and eventually death from high tumor burden. The cause of these tumors is a defect in the NF2 gene. The NF2 gene encodes for a protein called Merlin. Merlin functions as a tumor suppressor which in healthy individuals prevents the growth of tumors in these tissues. We soon learned what a cruel and relentless disorder NF2 is. Now 11 years old, A.J. still lives mostly symptom-free, but the tumors in his body continue to grow. They will destroy his senses and mobility over time if we don’t find a treatment.


NF2 is among 7,000 identified rare diseases. Patients with any rare disease face a harsh reality. The disease they suffer from competes for the attention of scarce resources. At present, only about 600 rare diseases are in trials. Pharmaceutical companies want to focus on research that can be monetized soon, the result is a huge unmet medical need in the rare disease patient community. I saw a glimmer of hope when I learned that many cancers harbor acquired NF2 mutations, including spontaneous vestibular schwannomas, meningiomas, and even subsets of mesothelioma, renal cell carcinoma, breast and prostate cancers. Perhaps we could convince others outside of NF2 community to join our cause; this still remains to be seen.


For NF2 patients, observation, surgery, and radiation remain the only available options, and they are all poor choices, as they have high complication rates and are largely ineffective. With no FDA-approved therapy for NF2, patients and their families must become the driving forces behind any progress. For all these reasons, I decided to fight for a cure on my own. Shortly after A.J.’s diagnosis, I learned about another “rare” doctor-mom who raised millions of dollars to fund gene therapy research for Sanfilippo syndrome, a rare disease affecting her daughter. This is what we needed to do for A.J. Three months later I founded NF2 BioSolutions (nf2biosolutions.org), a nonprofit 501(c)3 public charity with the goal of accelerating gene therapy research and finding a cure for NF2. Our mission is to bring attention to NF2 and sponsor leading labs to focus on NF2 research with the goal of bringing NF2 gene therapy to the clinic. NF2 BioSolutions is the first organization to explore gene therapy—and now cell and immune therapies too—to fight NF2.


Today, NF2 BioSolutions is a globally-supported organization that has raised over $1million to date and funded breakthrough work and pre-clinical research with the support of leading experts in the field such as Dr. Gary Brenner:


I am highly optimistic that this gene therapy strategy can represent an effective and safe therapy for patients with schwannomas – whether associated with NF2, schwannomatosis or sporadic schwannomas”. — Gary J. Brenner M.D. Ph.D., Associate Professor, Harvard Medical School Director and Director, Massachusetts General Hospital Pain Medicine Fellowship


Along with other advocates, I am proud to fight every day against this disorder. However, we need your help to find an effective therapy for A.J. and thousands of others afflicted with this disease. All donations to NF2 BioSolutions go directly to sponsoring research that could eventually save A.J.’s life and the lives of thousands of others.


NF2 BioSolutions has grown far beyond me since I started it four years ago from my home in West Chester. Building on the love we have for those suffering from NF2 and with support from hundreds of people whose lives have been affected by the disease, NF2 BioSolutions has launched and currently is supporting several novel therapy approaches to treat NF2 tumors. Since we don't yet know what approach will have the best and most lasting treatment results, we are supporting multiple pre-clinical research programs in parallel. Some have the goal of killing existing tumors; some attempt to stop tumor growth; and, some seek to prevent new tumors from forming.


The research funded to date has yielded promising results in working toward a therapy for NF2 and in the treatment of rare diseases more broadly. In addition to our gene therapy program, we have made progress in the development of key tools and resources including 3D imagery and volumetric analysis of NF2 tumors and the generation of NF2 animal models. We also have supported the development and sharing of the world’s first open-access NF2 biobank with a growing number of cell lines and continuing sources of fresh tumor tissue. We keep researchers connected and focused on a cure for NF2 and share the tools and data needed for impactful results. However, we still have a lot of work ahead of us.


Gene replacement therapy and other emerging therapies have had a lot of success in other types of genetic mutations. We plan to replicate this success and jump-start gene therapy research for NF2. We will continue to bring together groups of researchers, doctors, patients, and advocates, combining our minds and experiences to make advances and leave no NF2 patient behind. But we need as much support as we can get to fund the research that will determine how to develop a cure.


While my focus is leading NF2 BioSolutions and finding a cure for A.J., I struggle balancing it with my busy life here in West Chester, Pennsylvania. I am an anesthesiologist at Premier Surgery Center of Exton, a mom to A.J. and his big sister Brooke too. I know my time with A.J. is precious, and I try to spend as much as I can with him. We enjoy planning fun adventures around Chester County and beyond knowing one day he may not see or hear as well as he does today. We recently visited Fenway Park in Boston and the Eiffel Tower in Paris. Next on our list are trips to see Niagara Falls and the Grand Canyon.


My fellow Chester County physicians, my call to action is to please help me find every NF2 patient and make them aware of our efforts and help us find this much-needed work. Also, if you have a few hours a year or each month, there are many ways to become involved in NF2 BioSolutions and help find a cure for this debilitating disease.

Visit the Take Action page on our website nf2biosolutions.org to see how you can help or send me a message at nicole@nf2biosolutions.org. Visit our Donate page if you would like to support research with a tax-deductible financial gift.


Working together as a team, we can put an end to NF2 suffering.


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