ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration

G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 means Dravet syndrome. All three designations became official on Oct. 1, 2018, joining some 70,000 other diseases listed in the latest iteration of the International Classification of Disease (ICD). Known…

‘A Disease May Be Rare, Hope Should Never Be,’ Says Boy with SMARD at Connecticut Rare Disease Day Event

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…