Patients with ultra-rare mutations present unique challenges to health care systems around the world because of the rarity of the mutations and the fact that these mutations can affect any organ. Fortunately, the plight of these patients has recently been recognized thanks to advances in genomics that have shown that, while each patient may be unique, there are millions of these individuals. Tragically, most of these patients progress and succumb to their disease without ever having an accurate diagnosis. For the fortunate few who are referred to a tertiary care institute specializing in personalized medicines, the journey is long and perilous. Though each patient is unique, they share severe symptoms, rapid progression of diseases, and terrible desperation and isolation.
It is time for all stakeholders to come together to develop solutions that help as many people as possible immediately, while developing longer term holistic healthcare solutions to meet the needs ...
