ACTION ALERT: Costs of Caring for Children with Rare Disease Survey
Shivani B. Nazareth, RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc, is conducting an anonymous survey to better understand the financial cost of caring for a child with a rare genetic disease. By participating in this survey, you will contribute to a research paper that will quantify the financial burdens endured by parents of [...]
Costs of Caring for Children with Rare Disease: Online Survey
The daily routines of those who care for children with rare genetic diseases are challenging. In his new book, “The Boy in the Moon,” Ian Brown describes his personal struggle to cope with his son’s diagnosis of cardiofaciocutaneous syndrome. Brown details how he learned to communicate with his son, who is unable to speak, and how [...]
The Cost of Care – Online Survey
The daily routines of those who care for children with rare genetic diseases are challenging. In his new book, “The Boy in the Moon,” Ian Brown describes his personal struggle to cope with his son’s diagnosis of cardiofaciocutaneous syndrome. Brown details how he learned to communicate with his son, who is unable to speak, and [...]
Carrier Screening in the Era of Genomic Medicine
“It’s not so bad to find out that you are a carrier…[but] finding out that you are a carrier of SMA [spinal muscular atrophy] from your child dying is the wrong way to do it.” -Deborah Heine, executive director of the Claire Altman Heine Foundation Like many parents of children with rare genetic diseases, Deborah [...]