The Pompe disease community is anticipating the pivotal FDA decision for AT-GAA, a combination therapy for late-onset Pompe disease (LOPD) that has the potential to expand the armamentarium of physicians.
Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.
In the first episode of a 2-part Rare Disease Report, Whitney Mitchell, mother and caregiver to her 5 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah’s CDKL5 deficiency disorder diagnosis.
Expert Dr. Mikkael Sekeres treats patients with bone marrow diseases and in this episode he talks about treatment methods, clinical trial obstacles and the importance of reliable sources when it comes to rare conditions like MDS and AML.
This episode features a conversation with Dr. Amelle Shillington and Jacob and Ashley Wiley after Shillington diagnosed the extremely rare genetic disease that's afflicted Aislynn Wiley, and only 69 other documented cases worldwide.