We Can All Make a Difference

By: Ana Downey

Trust me, before I even had kids, I always asked myself what would be my purpose in life. I believe all of us have this question at some point. Purpose doesn't need to be big, but it needs to fulfill us. I never dreamed about being a mom and I decided I was ready when I was almost 38 years old. First comes my boy, Luka. Two years later, Luna was born. I am a happy mom, I found my purpose. I love to take care of them. I am constantly asking myself what I can do to improve their chances of a great life. After all, I believe this is what we want for our kids. 

When we become parents, we are all learning how to raise a kid and for the most part, we have our parents' experiences, our own experiences growing up as a model. Luna’s diagnosis was a curveball. What does she need? What will school be like for her? What about the future? Jobs? Many questions with unknown answers.

I saw myself back as a student trying to learn as much as I could about DYRK1A, genetics, therapies,... it was exhausting. I realized as part of the “rare diseases”, there is almost no information or research around DYRK1A Syndrome. And yet, rare diseases are not as rare as we think. Approximately 10% of the global population or 400 million people are affected by a “rare” condition. Given that 80% of these diseases have genetic causes (meaning that people tend to be born with a rare disease), sufferers are highly likely to be children, with 30% of them dying before they reach their fifth birthday – often without a diagnosis.

As an engineer, I thought I came from a completely different background. I work with technology to connect devices and people, not the medical field. My purpose as a mom was growing and I realized those fields are more interconnected than I realized. Technology is in every field now. Machine Learning and  Artificial Intelligence, combined with the power of data is accelerating every single discovery. 

Data is one of the most important assets nowadays. We can see that the most powerful companies are the ones that leverage data on their business: Amazon, Google, Facebook,... This is because we have enough technology to analyze big amounts of data.

Our DYRK1A community grew a lot in the past few years and we are over 500 families worldwide now. It's our chance to take advantage of technology and invest in research. I will keep studying more and I will keep sharing what I learn.

 As we approach the rare diseases day, I challenge each of you to make a difference:

Hope for a great 2022