MAY 2024: Telling the DADA2 Story
Dear DADA2 Community:
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.
We also signed on to a letter with NORD (National Organization for Rare Disorders) to advocate for rare disease patients in the United States government. If you are in the US, please feel free to check out what NORD is doing on several very active bills – and if you are out of the US, check it out, too, for ideas on how you can advocate for increased access to the care you need. In fact, we supported an effort for TNF-inhibitors to be more accessible in the UK!
Now, we’re also asking you to tell your story of how we can help. Tell us what’s missing from the patient’s page on our website. What resources could we provide? While we can’t promise to take action on every idea, we’d love to hear your ideas!
Grateful, as always, for this community.
Cheers,
Chip Chambers, M.D.
Founder & President, DADA2 Foundation
Dr. Lee Goes to Africa
Many thanks to Dr. Pui Lee of Boston Children’s Hospital (US) for representing the DADA2 community as a keynote speaker at the PAFLAR conference (Pediatric Society of the African League Against Rheumatism). He delivered a talk called “Deficiency of Adenosine Deaminase 2: A Consensus Approach for Diagnostic Evaluation and Management” twice to more than 90 physicians, medical residents, pharmacists and patient advocates who attended from more than 25 countries. Dr. Lee’s presentation was mentioned several times as a favorite of the conference.
Says Dr. Lee of the experience: “It was a pleasure for me to visit Tunisia and give talks for both PAFLAR Congress and LITAR Congress. With over 600 known cases of DADA2 in the world, very few of the published cases are from Africa. The doctors in Africa are so amazing at what they do, yet often with much fewer resources than we have here in the US. As we know, DADA2 can present in many different ways. Access to ADA2 enzyme testing and genetic testing is a major limitation to finding cases in Africa. I hope that raising awareness of the condition and letting the audience know about different options of testing facilitated by the DADA2 Foundation will be a major step forward.”
Will you be attending a conference, meeting or presenting in rounds to share about DADA2 anytime soon? We’d love to know. Tell us the details by emailing us below.
Physician Collaboration, Inspiring Patient Action
For the Tavormina family (pictured above), getting a diagnosis for DADA2 took years, confusion, co-diagnoses, and countless doctor visits and tests. “It was like waking up to an episode of House every day,” says dad Matt, referencing the US television series centered on fictional medical mysteries.
But this was reality for the Tavorminas: two kids, symptoms showing years apart, and eventual genetic tests revealing ADA2 deficiency. One Tavormina child is a classic case of a different diagnosis before DADA2, due to the similar nature of symptoms of DADA2 and other diseases.
“Our doctors were amazing,” says Matt. “All of the doctors collaborated. Our son was a hot topic around UCLA, and all the doctors worked with their networks to figure it out.” This team of physicians at UCLA consulted with the NIH on how to care for the boys, and even guided the family to the DADA2 Foundation as a resource. “We felt included in the process,” says Matt.
Today, the Tavorminas are ready to do whatever they can to help other families avoid the dread and despair that comes with life-impacting symptoms that have little answer. For their kids, the right medication made all the difference of feeling unpredictably ill to being fairly consistently healthy and living a normal life. Recently, they offered to send blood samples to help the Foundation test a new point-of-care testing device that is in development.
We always say: It will take all of us to treat and cure DADA2. In the coming months, we’ll need more patient involvement and continued collaboration among physicians. We are grateful for this incredible spirit of shared mission to cure this disease!
Patient Page: What’s Missing?
Did you know we have a whole section on our website dedicated to helping patients? Here’s what you can find there:
- Tips on assembling your care team
- Access to the Patient & Families page on Facebook, where 100+ families are actively exchanging ideas
- Ways to make injections easier
We’d love to know: What’s Missing?
If you have ideas on resources we can develop that will help you navigate DADA2, we’d love to hear about it. Email us at info@dada2.org.
We cannot provide full medical advice; your doctor is ALWAYS the best resource for that. But we can provide pointers and ideas for you to discuss with your care team.
Latest Published Articles on DADA2
Deficiency of adenosine deaminase 2: a genetic autoinflammatory disorder mimicking childhood polyarteritis nodosa. BMJ Case Reports CP 2024;17:e258410
Early Bone Marrow Alterations in Patients with Adenosine Deaminase 2 Deficiency Across Disease Phenotypes and Severities. The Lancet. Pre-print. Posted 18 Apr 2024
Recurrent Mononeuropathy, Stroke and Deafness in a Teenage Boy: Correspondence. Indian J Pediatr (2024)
ADA2 regulates inflammation and hematopoietic stem cell emergence via the A2bR pathway in zebrafish Communications Biology volume 7, Article number: 615 (2024)
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