Rare disease, a family’s story and the power of social media

Seth Mnookin published a great story in the New Yorker about the Mighty family and their quest to understand their son’s unusual medical condition. In addition to highlighting the role genome sequencing can play in finding a diagnosis and informing medical treatment – still a frustratingly rare occurrence for families who are seeking answers – Mnookin also tackles a number of thorny issues, such as how publication practices can impact patient access to information.  He also highlights the ways in which the Mighty family and others have used social media to connect with and empower families in similar situations.

One of a kind: What do you do if your children has a condition that is new to science?