Consumer reviewers play a critical role in the review process of the Congressionally Directed Medical Research Programs (CDMRP). While reading and evaluating research proposals alongside scientists and clinicians, they also bring to the forefront of discussion the unique perspective of the patient. It was this perspective that Jocelyn Cenna – having observed her brother's challenges with Tuberous Sclerosis Complex (TSC) from youth through adulthood, now spanning more than six decades – was excited to bring to the Tuberous Sclerosis Complex Research Program (TSCRP) when offered the chance.

Frank Cenna was a college student in 1975 when he underwent brain surgery to remove a TSC-related tuber. The diagnosis of TSC followed the surgery. Frank and Jocelyn’s sister, Andrea, became his primary caretaker until she passed away in 2011. Jocelyn then took on this role.

In 2010, the TSCRP funded a clinical trial to study the safety and efficacy of topical rapamycin to treat facial angiofibromas in TSC patients. Frank participated in two phases of clinical trials, which led to the recent U.S. Food and Drug Administration (FDA)-approved Hyftor (sirolimus topical gel). This benefitted Frank and other TSC patients of all ages.

Through her own reading and personal experience, Jocelyn learned that people with TSC deal with a variety of medical and psychological issues, starting from infancy throughout adulthood, with different manifestations developed at different stages. For adults with TSC, doctors observe the brain, kidney, lung, and heart carefully for tumor growths; they monitor skin, eyes, and teeth closely for anomalies; and they also manage issues associated with TSC-Associated Neuropsychiatric Disorders (TAND) (i.e., anxiety, depression, memory, and sleep problems).

Jocelyn became an active advocate for TSC patients following Frank’s TSC diagnosis. Over the past 25 years, Jocelyn has participated in many fundraising events with the TSC Alliance, the leading advocacy group for improving the lives of TSC patients. These events include the Annual Step Forward to Cure TSC DC walks, the TSC World Conferences in Washington, D.C., and Dallas, Texas, Maryland Awareness and Advocacy events, as well as the Virtual March on Capitol Hill. In 2014, Jocelyn became a TSC Ambassador for Johns Hopkins Kennedy Krieger Institute, and in 2019, she served as a TSC Ambassador for the Inspire collaboration website. In 2020, she was the Off-Site Volunteer TSC Ambassador for the Adult TSC Center of Excellence at the University of Maryland Medical Center.

On serving as a consumer reviewer for the TSCRP, Jocelyn said, “It was an honor and a great privilege to be nominated by the TSC Alliance to serve alongside such a talented and knowledgeable group of scientific and medical experts reviewing these cutting-edge proposals. It was a very challenging task with a steep learning curve for me, as I do not have a scientific or medical background, but we all shared a common goal to evaluate the research proposals and add value to the review panel. The program is well run with a great buddy partnership (novice and mentor), many training videos, clear instructional process steps, and a great handbook for referral.”

While participating on the peer review panel, Jocelyn gained firsthand knowledge of the scientific community’s dedication to understanding the pathogenesis and manifestations of TSC to improve the lives of those dealing with the disease.

“The proposed projects will have a significant impact on overarching challenges, or possibly lead to a breakthrough scientific advancement,” she said. "The future hope to find a cure for this rare disease is so promising, after learning so much about the TSCRP and having a chance to provide a real TSC perspective!”

The TSCRP and entire CDMRP team thank Jocelyn for her service and extend their gratitude to Frank for all they both have done for the TSC community.

The views, opinions, and/or findings contained in this paper are those of the author(s) and should not be construed as an official Department of the Army position, policy or decision.