The Rare Moments

I am proud and excited to work alongside my rare disease warriors who push hard every day to drive progress. The focus on developing therapies for rare diseases is more than just scientific progress — it’s a movement that gives a voice to those without the numbers. It brings hope to patients, families, and entire communities, turning advocacy into action. By driving diagnosis and treatment for conditions that often go overlooked, we are not just addressing unmet needs; we are reshaping the future for the few who deserve the same urgency and innovation as the many.

A rare moment is more like a rare lifetime. My first-born daughter screened positive for PKU. That brought with it monthly specialist appointments, a huge learning curve, and crazy conversations with family members on identifying which long-gone relatives could possibly have had PKU but not identified since there was no screening at the time. Luckily, my daughter is a “mild-hyperphene” and did not need meal supplements. As a baby and young child, we used to describe her as having a prickly personality.

Fast forward to adolescence – when the normal PKU range was lowered, and she became eligible to start oral sapropterin. In less than a day, she was like a different kid – no longer prickly since things didn’t irritate her as they used to. Somewhere in young adulthood, she realized that taking sapropterin makes her feel better. As a parent, I sit back and thank the research world for creating the screening test back in the 1960s and for finding a treatment for PKU. We have a long way to go to find ways that positively impact everyone with this genetic defect, but the scientific community continues to work toward treatment, and this makes a mother’s heart happy.

I have seen so many families without hope losing children (young and adults) to rare diseases despite the investment of time/money, and emotions. One of the most fulfilling days for me was when one such family was able to watch their child markedly improve about 8 months after treatment!

I am happy to be a part of the Worldwide Clinical Trials Rare Disease team. I love knowing my work and efforts can make a difference for an underserved population.

This Rare Disease Day, I am thinking about how phenomenal it is to see how rare oncology patients have benefitted from the 6 CAR T treatments now available! It is exciting to watch how continued advancements have turned CAR T into a new development paradigm for autoimmune diseases – looking forward to seeing these additional patient communities benefit from cell therapy!

With extensive commercialization expertise and deep knowledge of rare diseases, Trinity Life Sciences has supported the launches of some of the most impactful drugs and therapies globally. We remain committed to helping our clients overcome unique commercialization challenges faced by specialized treatments and strive to create a better future for those living with rare diseases.

With approval of the first treatment to use gene editing to address a genetic rare disease, plus all the very recent innovations in base editing, prime editing, and lipid nanoparticle delivery, I’m hopeful we’ll see an ever-increasing number of gene editing programs in development for patient communities with genetically driven rare diseases. Kudos to the pioneers with development programs for rare cardiovascular diseases, rare blood cancers, rare hemoglobinopathies, rare bleeding disorders, rare metabolic disorders, rare neuromuscular diseases, and rare inherited retinal diseases!

So incredibly touched to receive this book from our friends at Ultragenyx. Dr. Emil Kakkis has been at the forefront of rare disease research throughout his entire career. I’m looking forward to reading this book throughout Rare Disease Week!

The Orphan Drug Act (ODA) of 1983 made the development of desperately needed new treatments for rare disease patient communities a possibility in ways it truly had not been before. Over the 40 years of the ODA, 6,340 orphan drug designations were granted, representing drug development for 1,079 rare diseases. Additionally, 882 of those designations resulted in at least one FDA approval for use in 392 rare diseases. While having an approved treatment option for 5% of rare disease communities is progress, we’ve seen time and again how partnering with patient communities increases efficiency. Let’s all do more of that!

I’ve worked in this industry approaching 25 years. When I first started, most clinical trials focused on treating disease symptoms so patients could feel better and live fuller lives. Today, though, we’re treating the underlying pathophysiology of diseases, and we’ve only just begun to do amazing science. I’m proud of the work our global teams are doing in Precision Medicine and Personalized Medicines, hopefully leading to a brighter future for rare disease patients everywhere.