January 2024: Cheers to New Beginnings!
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 Foundation as part of our end of year efforts. We simply could not keep our efforts going without your support.
I am particularly grateful to those who asked their friends and families on our behalf to give! When we spread the word about this disease, we can continue to do more work on behalf of patients, and may even find some new ones along the way! There is more you can do in the coming weeks!
Speaking of the coming weeks, please take a moment to reflect on your DADA2 journey – managing it yourself or helping another navigate it – and how you might commemorate it on Rare Disease Day 2024, which takes place this leap year on the rarest of rare days, February 29th! We will have many resources to help you in next month’s newsletter; but for now, consider the ideas below that take a bit more planning!
Lastly, you may notice a change to our newsletter format. This year, we are highlighting the practical ways that this community is living our mission to CONVENE and COLLABORATE so that we can COMMUNICATE about DADA2 and eventually CURE it! There is nothing better that we can do than always live at the very core of our mission, and we are thrilled to bring you these stories. If you ever have an idea of something we should share with this community, tell us!
Chip Chambers, M.D.
Founder and President, DADA2 Foundation
DADA2 POSTER SESSIONS ARE LIVE
The DADA2 Poster Sessions from the 4th International Conference are live on our website! Check out every poster that was shared at the Conference. For scientists, these will be intriguing bodies of work that represent the latest thinking on the disease. We are more than happy to connect you to any of these researchers to discuss their work.
For some clinicians, and especially for patients and families, this work is technical and scientific, and it is important to remember that it is in very early stages of understanding, so it is not necessarily part of medical care. Click the image above to see all of the talks!
SHARING OUR STORIES WITH ONE VOICE
We’d love to help you take a moment to honor your journey with DADA2 – whether you’re a patient, family member, physician or researcher – this Rare Disease Day. Because it’s a leap year, we will mark the day truly on the rarest day of the year – February 29!
Here are three ways you can participate that need a little more planning. We’ll also share MANY MORE ideas and resources in February to commemorate the day:
- Let us know at email@example.com if you would like a fundraising page! See Kevin’s story below on how he raised funds for the DADA2 Foundation at the end of last year. We had several families opt in to this way to raise funds!
- See if your local city will light up a building or a bridge in honor of Rare Disease Day. Use your favorite search engine to search your city and a well known building that you may have seen lit up for a sports team or another holiday. Then use this toolkit to follow instructions to request the day. We have Nashville’s pedestrian bridge lighting up on February 28th!
- Do you live near New York City or even have a desire to travel? On February 29, 2024, Rare Disease advocates will be joining the TODAY Show on NBC in the United States LIVE on the plaza where the show airs live. If you are interested in going, sign up with NORD (National Organization for Rare Disorders), which is organizing the event, here. You can come from 6:30am to 9:00am to Rockefeller Plaza, 35 West 48th Street (between 5th and 6th Avenues). We will have more info on this opportunity in the next newsletter.
Your story matters, and we’re thrilled to help you share it. Stay tuned next month for more!
SPOTLIGHT ON FUNDRAISING
Kevin Friesen is a DADA2 patient in Canada and chose to share his journey with his community in December 2023.
Using our web options, Kevin built a webpage with his story and a goal to raise funds for the DADA2 Foundation. He’s already more than $1,500 toward a $10,000 goal for the year.
Says Kevin: “Most people are diagnosed when they are young; but for me, I was only diagnosed when I was 25 – just a few years ago. By that time, I had already had several strokes due to DADA2. Thankfully, I have a treatment but there is no cure today. It has been a very, very, very long journey, but there are some extremely great people that I am so grateful for. There’s many ups, and many downs, but at the same time, I’ve learned some things along the way.”
Want to join Kevin and fundraise in honor of Rare Disease Day? Let us know today at firstname.lastname@example.org.
YOUR CARE TEAM MATTERS: Ella’s Story
“OK. This is probably going to be the most interesting patient we see today,” said Ella’s primary care doctor to the medical resident following him that day. “Have you ever heard of DADA2?”
“Yes!” said the med student. “We just had a test question last week on a patient with DADA2.” Stunned is how the room felt, especially for mom Jessica and DADA2 patient Ella. The two have journeyed to diagnosis for 17 years. Ella has been sick since she was two years old and finally received genetic testing to confirm a diagnosis in 2021.
To hear a brand new almost-doctor acknowledge DADA2 was a first for the Akin family. Ella is finally in the care of the team at the National Institutes of Health in Bethesda, Maryland, USA (pictured here).
Home, though, is Anchorage, Alaska, USA, so Ella has a primary care physician close to her hometown, and also sees specialists in Seattle, Washington. Like so many who do not live close to a DADA2 expert, this medical travel is the norm.
“Ella has always been in pain, since she was a little girl,” says her mom, Jessica. “From the age of two, it was progressive symptoms and misdiagnoses. Like any mom of an undiagnosed child, I Googled and assumed and made my own conjectures of what was wrong. I know every doctor we saw investigated her symptoms thoroughly, but we just never found the answer until now. So it was extra sweet to finally hear someone proactively know about our disease.”
BUILD A CARE TEAM, NO MATTER WHERE YOU ARE…
If you are not close to a DADA2 expert but need care, it is still possible to build the right team. And if you are a clinician treating a patient, be sure your patient knows options for all of the necessary team, noted here.
Our website, www.dada2.org, offers an explanation of how each can help you manage your care. Visit today and make sure your care is ready for 2024.
LATEST RESEARCH ROUND UP
Check out the latest papers published about DADA2. You can always view a running list and links at our Google Scholar feed.
Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI. Journal of Clinical Immunology; 22 December 2023. Volume 44, article number 25, (2024).
Optimization of a method for the evaluation of ROS in leukocytes of patients with ADA2 deficiency via flow cytometry. Università degli studi di Genova. 12 December 23. T15:23:26Z.
Infliximab as successful treatment option in a case of adenosine deaminase 2 deficiency. Reumatismo 75.4 (2023): 225-228.
Childhood Vasculitis. Indian J Pediatr. 15 December 2023.
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