Quarterly

Patient Perspective: Raising Awareness About Rare Disease in Puerto Rico

Angélica N. García Romero

In 2012, I was diagnosed with pemphigus foliaceus (PF). I was 21 years old and finishing an internship to earn my bachelor’s degree in social work. At that age, it felt like a curse to experience the ugliness of this condition. How was it possible that my own body was attacking itself? Why now? Lots of my questions were answered over time, but some are still, and could forever be, unknown to me.

I was started on prednisone at the moment the biopsy came back positive. Since the very beginning, I sought information and guidance for possible treatments and palliative care options to ease the pain the medication produced. I experienced symptoms of early depression and generalized anxiety, mostly induced by the prednisone and my new diagnosis. We are likely all familiar with these feelings.

In 2013, my doctors talked to me about Rituxan®. They told me it benefited patients with pemphigus vulgaris (PV). I did my research and opted to take the medication. As I navigated the approval process, I didn’t want to get my hopes up in case it was denied by my health insurance coverage. After a long process of justifying the treatment with academic papers and other evidence, my insurance company approved my treatment, and I only had to pay for hospital visits. The approval process concerned me. What if I needed the medication again and my insurance wouldn’t cover it because it was not approved for my PF? How could other patients work this out?

I wanted to do more. In 2015, I saw the application for Rare Disease Week on Capitol Hill, an event conducted by Rare Disease Legislative Advocates. I applied and received notice that I was one of the selected patients to receive their stipend. It was both amazing and saddening that I was the only person from Puerto Rico that year. Our political status as a Commonwealth of the United States of America grants us some rights, but it also demands more responsibilities than the benefits we receive. Our political system establishes that a congressional representative is elected by the citizens to represent Puerto Rico. This is the Resident Commissioner in Washington, DC. They don’t have a right to vote, but can be involved in lobbying activities and express Puerto Rico’s concerns. Also, they can identify federal and state funding to promote wellness in our archipelago.

After the amazing experience of attending Rare Disease Week, I had to take a break because of a new job. Four years passed, and the COVID-19 pandemic became our new reality. I had the opportunity to advocate virtually during Rare Disease Week on Capitol Hill. I was very fortunate to share this moment with another Puerto Rican who advocates for his son’s condition of Laminopathy-related Congenital Muscular Dystrophy (L-CMD) and disability. He directs a nonprofit organization called the Eli Foundation. Over the past few years, the organization has worked very hard to meet with our Representatives in Puerto Rico and conduct press tours to share the stories of people with rare diseases.

On July 29, 2021, the Puerto Rican Senate approved legislation to promote education and sensibility toward people with rare diseases, and to acknowledge and recognize Rare Disease Day in Puerto Rico as the last day of February every year. On February 28, 2022, the Commonwealth of Puerto Rico recognized Rare Disease Day for the first time.

Right now, we are keeping up the momentum. We have scheduled meetings with Puerto Rico’s Department of Health; legislators; and the Resident Commissioner, Congresswoman Jenniffer González. If the national bills we are supporting get approved, there will be more work to do in Puerto Rico to receive the benefits. But, we are building a community to stand as a united front and to continue advocating for rare disease patients.

Angélica N. García Romero is a pemphigus foliaceus patient and advocate. She is 31 years old. Her academic preparation is in social work, and her practice is in nonprofit management. She was born and raised in Puerto Rico, where she lives today with her partner.

Journal of the International Pemphigus & Pemphigoid Foundation