JUNE 2024: Patient Quality of Life Survey, Heaps of Activity
Dear DADA2 Community:
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!
Without your work, it would not be possible to have patient success stories like the one you’ll see below. Healing for this patient came years ago, and he’s celebrating years of living life fully. I hope you find that encouraging if you are in the middle of managing tough symptoms – whether as the patient, as a caregiver, or as a dedicated clinician.
Speaking of quality of life, if you are a patient, this is one of the most important newsletters we will send for a while. One of our trusted researchers, Dr. Isabelle Meyts of Belgium, is conducting a survey of patient quality of life. The more patients who participate, the better her data will be, and the more we can determine how to care best for every patient. So please take the survey today. We need dozens more participants to make the data excellent. Carriers are welcome to take the survey, too.
We are all in this together, and I am so grateful for this network.
Cheers,
Chip Chambers, M.D.
Founder & President, DADA2 Foundation
Here, there and everywhere!
Since we last wrote, this network has come out of the woodwork sharing where they are talking about DADA2. Check out the talks below and let us know if we can connect you to any of these clinicians and researchers!
Dr. Yakov Berkun, head of Immunology at Hadassah-Hebrew University Medical Center in Jerusalem, Israel, shared a lecture in Armenia, on May 10 to approximately 400 attendees of the “National Days of Genetic Diseases in Armenia”. During the conference, which is dedicated to autoinflammatory and other rare diseases and drew doctors and researchers from Armenia and neighboring countries, Dr. Berkun gave a lecture on DADA2 summarizing the experience of doctors from all medical centers in Israel. This group is among the first to identify DADA2 more than 30 years ago. Some of their patients were the first in the world to receive TNF inhibitors and have been receiving this life-saving treatment since infancy, for more than two decades.
Dr. Yael Shinar, Department of Biological Chemistry Institute of Life Sciences, The Hebrew University of Jerusalem, presented a poster on May 23 to the annual meeting of the Israeli Society of Medical Genetics. The poster, pictured here (you can click to download), summarizes 10 new DADA2 diagnoses made at the Genetic Institute at the Sheba Medical Center, according to their genotype, phenotype, and treatment status. Says Dr. Shinar: “Sharing is contributing to efforts taken for a good cause, and getting involved.”
Dr. Bodo Grimbacher, Scientific Director, Center for Chronic Immunodeficiency, Medical Center – University of Freiburg, Germany, presented “Genetic predisposition to Autoimmunity and Autoinflammation” to the 14th International Congress on Autoimmunity Program in Slovenia in May. The conference focused on the newest therapeutic techniques and diagnostic tools, and research and novel therapies of autoimmune diseases.
Patient Survey: Did you submit a response?
Are you a patient or parent of a patient who wants to share your quality of life with a scientific study? Then add your survey response today to an international research project out of Belgium. Dr. Isabelle Meyts is collecting answers to a specific set of questions about what it’s like to live with DADA2. There is no other survey in the world exactly like this one, but it does represent researchers’ growing interest globally on how patients feel day to day. Patients, carriers and their caregivers only, please! Responses are anonymous and participation is absolutely voluntary.
The more responses we get, the better the data is to inform researchers, so submit your form today!
When treatment changes lives…
Tomas Evans, of Wales, United Kingdom, might be 8 years out from his bone marrow transplant, but his gratitude for his health is still as enthusiastic as it was when he started feeling better as a young adult. For Tom’s type of DADA2, a bone marrow transplant was the difference between a childhood of illness and a thriving young adult life. Whether you’re one of the few who needs a BMT or one of the many whose lives are changed by taking TNF inhibitors, it’s always worth celebrating the stories of treatment leading to life! Watch Tom’s story here.
Latest Published Articles on DADA2
Deficiency of adenosine deaminase 2 leading to recurrent Hodgkin lymphoma: A case report
SAGE Open Medical Case Reports 12 (2024): 2050313X241260148.
Annals of Medicine and Surgery (2024): 10-1097.
Annals of Rheumatic Diseases (2024): 1240-1241.
AB0021 Expanding Spectrum of ADA2 Deficiency in South Asia: A case series from North India.
Annals of Rheumatic Diseases (2024): 1235-1236.
Annals of Rheumatic Diseases. (2024): 1113-1114.
Deficiency of adenosine deaminase 2 (DADA2) presenting with diffuse skeletal muscle vasculitis
Journal of Paediatrics and Child Health (2024).
In the NYC/New Jersey/Philadelphia, USA, area?
Join Mary Wagner and her family as they tee off to support finding a cure for DADA2. Mary’s family has been champions for every DADA2 patient as they have raised funds to support many efforts.
Many thanks to Mary and her family for all they do as an aligned organization to support patients!
More info at: www.newviewforPAN.org.
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