Jason Marchetti’s son, Anthony, was diagnosed with NF1 before he was 2 years old.  Fortunately, Anthony has not been severely affected; he has not needed surgeries or chemotherapy and has suffered no physical disfigurement.  Despite this, Jason and his wife, Colleen, anxiously face the prospect that any of these challenges could still emerge in his future.  They are also reminded daily of the learning difficulties, attention deficit, and other behavioral-cognitive problems common for NF children that force them to struggle through each school year.

Early on in Anthony’s life, Jason and Colleen became involved with the Texas Neurofibromatosis Foundation (TNFF).  Jason has served for several years on their medical advisory board, reviewing research grant applications submitted annually to the foundation.  Jason, a physician, practices musculoskeletal and pain medicine, allowing him multiple viewpoints on research and treatments for NF.  He credits the wonderful work of TNFF in their state with a staff presence at every NF clinic in Texas.  The TNFF also offers patient advocacy and support programs and awards $40,000 to $90,000 annually for small NF-related research projects.  Some of these initial pilot studies have led to larger studies that have been funded by the CDMRP Neurofibromatosis Research Program (NFRP). 

Jason first learned of the NFRP though the TNFF, which has often nominated consumer participants for the CDMRP.  He found that reviewing scientific articles and grant applications comes with a learning curve, but the NFRP minimized this with the help of mentors.  In addition to participating as a consumer reviewer, Jason and Colleen have participated in lobbying efforts in Washington, DC to advocate for continued funding of the NFRP.  Jason found that this too was a wonderfully insightful experience, not just with regard to the exposure to NF-related information, but the entire process of federal government operations and lobbying in general. 

Over the years, Jason and Colleen have had the opportunity to attend some meetings of the Children's Tumor Foundation, which sponsors annual scientific conferences attended by NF clinicians and researchers from across the globe.  They have been amazed at the dedication that all of the scientists display regarding treatment of NF and learning about the many facets of this disease.

When asked if there was anything that he would like to share with the consumer community, Jason stated, “Participating in the consumer review program is an excellent and enlightening way to learn more about the scientific endeavors related to NF, and more importantly, to have some voice in the future direction of research efforts.”

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