Catriona, Harry, Ronald
Vito and Rebecca

Neurofibromatosis (NF) is a unique and challenging disease. Most people are unaffected by it and, therefore, are unaware of how it impacts patients and their families. This disease has had a dramatic life-changing impact on our family. It is extremely difficult to witness our daughter Rebecca's struggle with NF; the endless medical appointments, surgeries, recovery, scans, and tests are a constant reminder of the disease and its serious consequences. We are continually looking for clinicians with NF knowledge and experience. We live in a suburb of Albany, NY, and although we have several reputable medical centers in the area, there are no clinicians with significant experience with NF nearby. For example, my daughter has had multiple surgeries to remove brain tumors; as a result of these surgeries, she has lost her hearing and has an auditory brainstem implant (ABI) to allow her to "hear" sound. We have not been able to find an audiologist or other hearing specialist in our area to provide the ongoing training and adjustments necessary to maximize the benefit of having an ABI. So we travel over 3 hours to Boston for our daughter's medical appointments and care at Massachusetts General Hospital and Massachusetts Eye and Ear Institute. The great distance makes it difficult for Rebecca to maintain her work schedule and has severely limited her ability to get the training and support she needs to enhance the value of her ABI. The emotional impact has been severe, and I cannot imagine how threatened she feels by the disease. I strongly recommend that people with NF or with a loved one who has NF become active in an NF advocacy organization to benefit from association with others who are dealing with this disease and its life-changing impact.

I enjoy my advocacy for NF research and believe the work occurring is very important. However, I am frustrated by the pace of progress and the paucity of funding for medical research generally and for neurofibromatosis 2 (NF2) research in particular. The current pipeline of moving basic and translational research into treatments to be developed by the private sector, especially with rare diseases such as NF2, needs to be rethought. I am on the board of NF2 Biosolutions, which was created in 2018 on Facebook. In March 2019, NF2 Biosolutions hosted a conference that brought leading NF scientists, clinicians, and geneticists together to discuss the current state of NF2 research and the potential of genetic therapies to benefit NF patients. That conference produced several collaborations that we hope will enhance and expedite NF2 research and development of trials using gene and immune therapy. I also participate in NF Northeast (NFNE) and the NF Network and follow the work being done by the Children's Tumor Foundation. It was NFNE that encouraged me to apply to be a consumer reviewer for CDMRP’s Neurofibromatosis Research Program (NFRP).

The NFRP consumer reviewer process has been easy; ample resources and assistance have been available throughout to inform and educate me about what is involved and what is expected. The exposure to NF research that my role as a consumer reviewer has given me has been very helpful in maintaining my hope for improvements in treatment options for my daughter and has also alerted me to the great potential of NF-related research to also benefit other research involving treatment of tumors. My general impression is that many scientists, especially those who are also clinicians, are deeply and personally committed to research because they recognize the importance to patients and are motivated by the desire to find treatments that are effective. Being a consumer reviewer is an important and rewarding role, and the perspective of consumers is vital in the process of evaluating research for the purpose of awarding grants.

(from left to right) Matt St. Pierre, Rebecca Grasso, Susan Grasso, and Vito Grasso
(from left to right) Matt St. Pierre, Rebecca Grasso, Susan Grasso, and Vito Grasso

Last updated Thursday, May 26, 2022