by Peter Ciszewski | Apr 13, 2021
Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and Board Member of the FSHD Society, advises patients to get involved with FSHD patient advocacy groups. FSHD is a rare, progressive musculoskeletal disease in which persons initially lose...
by Peter Ciszewski | Apr 13, 2021
Stacy Pokorny, a mother of a young girl with spinal muscular atrophy (SMA), gives advice to parents of children who have recently been diagnosed with the disease. SMA is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor...
by Peter Ciszewski | Apr 12, 2021
Jonathan Hill, a patient with hemophilia A, talks about the many challenges faced by the hemophilia community during the last part of the twentieth century. Hemophilia A is a genetic disorder caused by missing or defective clotting protein, factor VIII....
by Peter Ciszewski | Apr 9, 2021
Florence Wong, MD, Hepatologist at Toronto General Hospital discusses terlipressin, a potent vasopressin analogue being investigated for the treatment of hepatorenal syndrome type 1 (HRS-1). In the first part of the interview, Dr. Wong describes the...
by Peter Ciszewski | Apr 9, 2021
Deborah Marsden, MD, Global Medical Expert, Medical Affairs, Ultragenyx, gives an overview of mucopolysaccharidosis type VII (MPS VII). MPS VII is a rare progressive metabolic condition that affects most tissues and organs. The disease is also known as Sly...
