AdvocacyRSS2 days ago
A patient with AATD (alpha-1 antitrypsin deficiency) is raising awareness that doctors aren't talking enough with their patients about air trapping—a condition where air gets stuck in the lungs and doesn't come out properly. Air trapping is a common problem for people with AATD, but many patients don't understand what it is or how to manage it. Better patient education about this issue could help people with AATD breathe better and manage their condition more effectively.
WHY IT MATTERSPatients with AATD who understand air trapping can work with their doctors to use breathing techniques and medications that specifically target this problem, potentially improving their lung function and quality of life.
Clinical trialCLINICALTRIALSApr 14
Researchers are looking for young adults ages 15-25 with rare genetic disabilities to join a study about getting jobs and education. The study will follow 300 participants and examine the challenges these young people face when trying to go to school, get internships, or find work. Many young people with rare genetic diseases struggle with these opportunities because of their condition and lack of support.
WHY IT MATTERSThis trial directly addresses employment and education barriers that young adults with rare genetic disabilities face — areas where they typically have the fewest resources and support.
ResearchCONGRESSApr 1
Researchers studied how life circumstances like poverty, access to healthcare, and education affect children with developmental delays and intellectual disabilities. They also looked at how long it takes families to get a diagnosis and whether genetic testing helps. The study suggests that where you live and your resources matter a lot in getting answers for why a child has developmental challenges.
WHY IT MATTERSThis research highlights that children from disadvantaged backgrounds face longer diagnostic journeys for developmental delays—meaning families may wait years longer to understand their child's condition and access support services.