Rare Disease Day, which takes place every year on the last day of February, is a global movement aimed at raising awareness of the 7,000+ rare diseases and more than 300 million people worldwide who live with a rare disease.

With our deep experience in the rare disease space for more than 25 years and commitment to two key therapeutic areas – neurology and metabolic disorders – we’re proud to support the rare disease community on Rare Disease Day and every day, because at PTC, we’re in it together.

“We strive to ensure the patient’s voice is incorporated in all aspects of drug development,” says Frank Quintieri, VP, Patient Relations, North America. “We connect with rare disease communities early in our developmental processes and throughout commercialization, collaborate on shared educational opportunities and connect community members to resources that can help them in times of need.”

For example, the U.S. Patient Engagement (PE) team provides resources and support to patients and their families throughout their rare disease journey through collaboration, compassion and partnership. These resources, made available through the Insightful Moments initiative, aim to help support patients and their families – whether they are just starting on their rare disease journey or already well into it. New resources, a part of the “Discovering Wellness” series, were recently released this month.

To help the Spanish-speaking rare disease community in the U.S., PTC offers educational materials in Spanish through the Momentos de Claridad platform. Read more about the U.S. PE team’s support of the Spanish-speaking rare disease community here.

Our PE team for Europe, the Middle East and Africa (EMEA) engages and collaborates with more than 100 patient advocacy organizations (PAOs) across 45+ countries and a diverse range of cultures.

It’s a privilege to work so closely with the rare disease community. Through our work, we can create opportunities that contribute to making a positive difference for people living with rare disease and their families.
Sian O’ Neill Senior Director, Patient Engagement EMEA

In Latin America (also referred to as LATAM), the PE team manages relationships with more than 70 associations and works on many training, awareness and engagement projects. LATAM is a vast region with almost 600 million people – and therefore, many people there are impacted by rare diseases.

“In a country of continental proportions like Brazil, we face challenges to ensure that knowledge about rare diseases goes beyond the big cities and reaches smaller towns and municipalities far from the capital. This work requires us to be flexible, agile and daring,” says José Anchieta, Senior Manager of Government Relations and Patient Support at PTC in Brazil.

With great determination, we map cities, identify needs and opportunities to improve the lives of those living with rare diseases. We're in the big urban centers and the tiny ones. We involve public authorities, discuss public policies, train and guide health professionals. In other words, we promote effective changes in the lives of people in these communities.
José Anchieta Senior Manager of Government Relations and Patient Support, PTC Brazil

It is the dedication and commitment to the rare disease community that sets the PE team apart.  

“PTC’s PE team is made up of individuals who have many unique traits, but above all else, they are driven to help people,” says Frank. “The team works with many people in the rare disease community, and we are most proud when we can help to make connections that benefit those in need.”

My favorite part about working with the rare disease community is the opportunity to get to know many amazing people who, when faced with adversity, have chosen to rise up to find the good in life and their journey.
Frank Quintieri VP, Patient Relations, North America

Stephania Cuellar, Senior Specialist Patient Relations for SAM Region, agrees. “I believe that day by day it is the patients, their stories of overcoming and strength that have transformed my life,” she says. “Words are not enough to say how grateful I am to work on behalf of patients with rare diseases, and to see that our work makes a genuine contribution. In my experience, I have realized the positive impact we have on patients and their families: from the moment they receive their diagnosis, they face difficult moments (fear, loneliness, guilt), and we become a support network that allows them to face this diagnosis and their life with less difficulty.”

Learn more about our Patient Engagement team