NOVEMBER 29, 2022
XLA patients require early diagnosis and treatment. It has been shown that quality of life is improved when patients have a lower age of diagnosis. However, XLA is not on the Recommended Uniform Screening Panel (RUSP) in the United States. In fact, it is in very few screening panels worldwide. If we are to improve the quality of life for future generations of XLA-ers, we must work to get XLA on newborn screening panels.
STOP XLA, based out of Leiden University Medical Center in the Netherlands, is conducting research into the potential benefits of newborn screening for XLA, and the best method of screening. This group has had success introducing newborn screening for SCID in the Netherlands. Now they're seeking to contribute to the XLA community across the globe... but they need our help!
Watch the exclusive XLA Life Fireside Chat with the amazing researchers leading the STOP XLA project.
Adding a new condition to newborn screening in the USA requires substantial evidence of improved quality of life, benefits, and a proven-method of screening. STOP XLA's work will seek to prove these benefits. They are looking for 350 XLA patients to join their protocol and help add XLA to newborn screening programs. Let's help them get XLA on newborn screening programs across the globe!
How you can help:
Contact Dr. Maartje Blom from the Leiden University Medical Center for a questionnaire via email@example.com
Fill out the questionnaire, it takes 10-20 minutes!
(Optional) Reach out to your doctor to provide clinical info
Spread the word to other XLA families!