February 28 is Rare Disease Day. It’s a day that we honor – globally – the bravery, persistence, and curiosity of everyone whose life is touched by a rare disease.

DADA2 is fortunate to be one disease that is not a common diagnosis but is supported by a huge community of researchers around the globe who are dedicated to learning more about it. It is core to our mission that we collaborate with these labs – like Dr. Kelly Brown’s lab that we featured this week – and connect with as many as possible to continue to find treatments and cures.

Another part of our mission is to connect with patients, and I was thrilled to do that a few weeks ago when 20+ patients from eight countries gathered online to hear an update on the Foundation and an update from Dr. Pui Lee of Boston Children’s Hospital, who treats many DADA2 patients. A recap of our time together is included in this newsletter so that you can catch up on the latest. Most importantly, I just have to say how much I enjoyed our time together, and I look forward to meeting more frequently.

Ten years. For some, that’s how long you suffered with DADA2 symptoms before receiving a diagnosis. Decades of searching and treatment trials is certainly the case for my family.

BUT, ten years is also the milestone the Foundation has reached since our founding. Just two years after DADA2 was officially named a disease, the Foundation formed and held our first conference in 2016 and I cannot begin to tell you all that we have accomplished – together – as we move toward a cure.

As we head into the new year, we are hopeful that new scientific discoveries and increased support for newly diagnosed patients and their physicians will ultimately improve the lives of patients and help identify the undiagnosed. We invite you to be a part of this important mission with a one-time or monthly gift. Your generous contribution of any size is critical to continue all of the work you see below.

Are you READY to join us?

Every time I connect with members of our DADA2 community, I’m reminded that this journey is shared. Each family’s story of searching for answers, finding the right care, and learning to adapt helps guide the work we do together.

As we enter the heart of summer, I’m excited to share some important updates from the DADA2 Foundation. This season’s newsletter highlights the incredible momentum we’re seeing across the global DADA2 community — from growing international partnerships and new treatment possibilities, to cutting-edge research expanding our understanding of the ADA2 enzyme.

April has given me a chance to reflect on the growth of what I often call my youngest “child”—the DADA2 Foundation. Like any parent watching their children come into their own, there comes a time when you realize they no longer need constant guidance; they begin to find their own path, form new connections, and make an impact beyond your immediate reach.

That’s exactly how I felt while reviewing all the DADA2-related content presented at this month’s ISSAID conference in Paris.

Spring has arrived in the southern United States, bringing its signature unpredictability—one moment warm and glorious, the next stormy and cold. In many ways, this mirrors the uncertainty in the political landscape, where funding for rare disease research remains in flux. The Foundation is closely monitoring developments and advocating for continued support. While it’s still too early to determine the full impact on current and future grant funding, we remain steadfast in our mission.

As we approach Rare Disease Day 2025, I find myself reflecting on how far we’ve come. It was just 11 years ago this month that DADA2 was officially recognized as a rare disease. While we are all too familiar with the challenges faced by rare disease families, Rare Disease Day is also a time to acknowledge the strength, progress, and sense of community that have emerged from our shared journeys. To borrow the words of a new member of our community, visual artist Ellie Pritts, these past 11 years have truly been “a journey of adaptation and resilience.”

Happy New Year! I hope everyone had a joyful and relaxing holiday season. The start of a new year is always an opportunity to reflect on past accomplishments and set goals for the future. With that in mind, I want to extend a heartfelt THANK YOU to everyone who contributed so generously to our end-of-year giving campaign. Thanks to your support, the Foundation met our fundraising goal, and we begin 2025 with renewed confidence to continue our vital work

I am breaking with our standard newsletter format to share an incredible development in our 10 years of DADA2 research.

2024 marks ten years since researchers in Israel and the National Institutes of Health (NIH) in Bethesda, MD, first identified the genetic basis of Deficiency of Adenosine Deaminase 2 (DADA2). For many of us, however, that breakthrough in February 2014 was simply giving a name and genetic origin to a disease we had been living with for years.

The heat of Nashville’s summer has given way to the cooler temperatures of fall. Fall is always a time for me to reflect on where we have been and start thinking about where we are going. When I started the Foundation, it was with one goal in mind: to find a cure. The Foundation has successfully built an engaged network of patients, families, physicians and researchers, pushing our understanding of the disease forward in leaps and bounds. What do we need now? To be blunt, money. We will need to raise money – big and small amounts – to reach our goal.

The communities we build around us are powerful. This month, we’re sharing stories about how we’ve come together as a community to make life better for patients through research, as well as quick and thorough clinical care. I would also love to hear your thoughts on what we should highlight in future newsletters or on social media that furthers our mission to convene, collaborate and communicate to find a cure.

Take a look at the sheer volume of effort displayed this month to cure DADA2. There are talks given around the world every month and multiple monthly publications in journals that are widely read and respected. To each of you who is taking the time to invest in the research, presenting, and publishing, thank you!

When is the last time you told your DADA2 story to someone new? Maybe it was your diagnosis story to a new friend, or your career path to the lab work that is focused on DADA2? We all have a story to tell.

This month, we told our story far and wide, to the greatest leaders and to our everyday communities. Dr. Pui Lee traveled to Tunisia in East Africa this month to share about DADA2 with a large Pediatric Rheumatology Congress.

I’ll keep my intro this month short and sweet: Collaboration is Key. Below are a number of updates that illustrate this long known truth that we know changes lives.

In particular, I want to emphasize the incredibly important role that physicians play in collaboration today and especially in the future. It is YOUR interactions with patients that will help fuel the next wave of discovery for DADA2.

Dear DADA2 Community:

It is Rare Disease Day next week. This is THE time to honor each of our journeys – hard fought and challenging, but unique and inspiring!

Dear DADA2 Community, Welcome to this new year! As I mentioned at the end of last year, 2024 will be momentous. We have so much in the works that we are excited to share in due time. For now, I want to say thank you to every one of you who donated to the DADA2…

Dear DADA2 Community,

This may well be the most intellectually stimulating, time consuming, and absolutely fascinating newsletter we may ever send – that is, until the physicians and researchers meet again in 2025 for the 5th International Conference on DADA2.

Dear DADA2 Community,

What happens when you get nearly 100 scientists and clinicians in a room for 36 hours to share their latest findings and questions on DADA2?

Well, you get 30+ talks updating on the science and clinical news. You get 10+ posters that generate hours of discussion among scientists and doctors alike. You get side conversations and pages of notes and agreements to follow up, join efforts, and continue to pursue treatments and a cure.

Highlights of this month’s newsletter include:

• What Can You Do to Celebrate Rare Disease Day?
• Patient Registry Sneak Peek
• Feature on DADA2 Patient, Andy Grundstad
• Global Reach: Who’s Engaged in DADA2?