February 2024: Take Action to Honor our Journeys on Rare Disease Day
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!
Here’s a few stats that I find fascinating, and invigorating!
- There as many as 9,000 rare diseases identified in the world today, affecting 300 million people.
- Nearly three-quarters of them are genetic, 70% of those beginning in childhood (similar to DADA2).
- We know of 600+ DADA2 patients, but studies say 35,000 could be undiagnosed!
This is the challenge before us: let’s find these patients soon, so they can end their diagnostic journey! Our focus is on awareness this Rare Disease Day so that more doctors can diagnose and more patients can get the care they need.
There are many opportunities to support this work and we invite you to take ONE action today. My personal favorite is the new DADA2 Store! Purchase and wear any of these great items as a conversation starter! A percentage of each purchase is donated to the Foundation.
I am so grateful for this community – it’s something many rare diseases don’t have, as is highlighted in comments from our amazing researchers below. Thanks for all you do!
Cheers,
Chip Chambers, MD
Founder & President, DADA2 Foundation
Follow Us!
Are you following our LinkedIn page?
This page will become increasingly important as we share news of future projects where we’ll need the input of many in this community. Your #RareDiseaseDay Action Item: Take a quick minute to find us and each other on LinkedIn. As always, feel free to share posts or comment! We love the discussions and outreach.
Make sure to follow us on all of our properties for more news.
In the Words of a Researcher:
The Benefits of Collaboration
Gathered during our 2023 Scientific Conference
“It’s perfect for us to get together, to get new ideas of how to collaborate on some of these projects.” Dr. Ivona Aksentijevich, USA
“I think that this is an example of how things should be done, that the patients together with the physicians should discuss the disease, should understand the needs of the patients. It’s very important.” Dr. Yackov Berkun, Israel
“The important aspect is, again, the intense collaboration between the basic scientists, medical doctors, experts in developing trials. All of these people have to collaborate all together with the Foundation to really be of help for the patients.” Dr. Marco Gattorno, Italy
“My hope for the future is that we can continue to leverage the collaborations and the fantastic relationship we have among the researchers and also, the patients and their families, to really to be able to solve this puzzle, and it’s a big puzzle.” Dr. Pui Lee, USA
Join Andy & Share Your Story or Fundraise!
It’s time to share your journey with DADA2 with the world … or even those most important to you in your community.
We have made an easy one-stop-shop webpage so you can take one #RareDiseaseDay action today:
- Create social media posts to share your story.
- Launch your own fundraising page.
- Get info on events happening in local communities, as well as how to get your news station interested in your story on Rare Disease Day!
Have another idea to raise awareness but need help? Let us know! We are always up for discussing ideas!
Latest Published Articles on DADA2
Update on Ocular Manifestations of the Main Monogenic and Polygenic Autoinflammatory Diseases
Front. Ophthalmol., Sec. Inflammatory Eye Diseases, Vol. 4 – 2024
Adenosine deaminase 2 deficiency- An under-recognized cause for recurrent stroke in childhood
Journal of Pediatric Neurosciences ():10.4103/jpn.JPN_28_22, January 30, 2023. | DOI: 10.4103/jpn.JPN_28_22
Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2
Pre-Print: bioRxiv 2023.10.25.564037; doi: https://doi.org/10.1101/2023.10.25.564037
TAKE ACTION WITH A DONATION
TO HONOR RARE DISEASE DAY
Learn more about how you can give a gift to honor Rare Disease Day,
and how your investment can be put to use!