When in Rome: Fight for Real Progress

As the international research conversations about fibrous dysplasia and McCune-Albright syndrome (FD/MAS) treatment continue to build, patients need to be at the center of that dialogue. “As a kid and teenager, I only talked about my MAS when I was at the doctor’s office. That was it,” said FDF Board member and MAS patient, Lauren Ruotolo, “Patients need to be able to learn from each other and maintain a dialogue with researchers in order to move our priorities forward.

March 17th and 18th the international conversations continued at a patient conference hosted by EAMAS, an Italian FD/MAS patient association in Arezzo Italy. While at the conference, patients learned from prominent researchers. Some researchers presented the latest information about how to treat FD/MAS, while others presented  advanced, cutting-edge research on the biology of FD/MAS. The researchers also learned from patients, listening to testimonies from their clinical management histories, and other experiences.

The FDF was represented by Ruotolo whose presentation to the conference focused on progress from the FD/MAS Patient Registry launched last October. Italian patients and researchers were very interested in the possibilities the FD/MAS Patient Registry creates for research and collaboration. The registry recently reached 400 participants and is believed to be the largest study of FD/MAS ever. It represents a clear way patients can engage in advancing research.

While at the conference, Ruotolo met a group of young women who were all FD/MAS patients as well. Although their English was limited, Ruotolo quickly connected with these women because of their shared MAS experiences. “We talked about mental health issues and what it was like to be fully developed by age 8, or even younger. Women with MAS want to know when we’ll hit menopause. We want to talk about what we should expect in the future,” said Ruotolo. The registry is an outgrowth of these conversations and a platform that allows researchers to study and answer patient questions in a scientific method. “The Registry is significant for patients because it focuses on the conversations that we really need to have, but don’t always have a platform to start,” said Ruotolo.

Kassim Javiad, Alison Boyce, Lauren Ruotolo, Daniele Tessaris, and Mara Riminucci. All of whom have been and remain active in the FDMAS consortium.

One of the researchers who presented was two-time Million Dollar Bike Ride grant winner, Dr. Mara Riminucci of Sapienza University of Rome. Dr. Riminucci’s presentation included updates from her grant sponsored work, some of the most advanced scientific developments in FD to date. The goal of her project is to test brand new treatment approaches that could slow or stop FD bone growth. Riminucci’s work is directly supported by patients, and Ruotolo has been one of the main fundraisers for that work. “Meeting Lauren [Ruotolo] has made me realize that genetic rare diseases are a challenge that researchers can only face together with the patients,” said Riminucci, “Patients like Lauren are much more than the target of our research, they are the engine that makes our work go on.”   

In addition to the Million Dollar Bike Ride partnership, the EAMAS conference continued many FDF international collaborative efforts. “We’re helping the Italian patient group to design their own research study, and we’re contributing to a UK-led project to update international patient treatment guidelines,” said FDF Executive Director Deanna Portero. “When any country, group or researcher makes advancements in FD/MAS treatment and quality of life, patients from every country benefit. Working together is our best option, and it’s our only option if we want to see real advances in FD/MAS care.”

After the conference, Ruotolo was both more inspired and more specific about FD/MAS action steps. “We need to be where the conversation is happening,” said Ruotolo, “The molecular science is exciting, but as patients, we also want to know the impact on our everyday lives. Patients need to organize around the advances that we want to see.” As the FD/MAS community becomes more active, improvements will reach patients faster. The FDF plans to attend future international research and clinical meetings to advocate for patient concerns and beat FD/MAS.