Knowing of the Diagnosis

What is it like for someone to discover they are a Rare Carrier? The recognition of carrier status is a distinct experience. No story is exactly the same. Detection is often a result of an unforeseen circumstance. Each revelation is unique, but always transformative. In this session, we discussed the unique paths carriers might take to determine their status as a Rare Carrier, and how it changed their life.

There are so many ways to discover carrier status. Some siblings or children might know from a young age, while others might uncover their status through prenatal planning or when they receive unexpected results from a newborn screening test. Some might experience symptoms of their own, while others never do.

In this session, we discussed how participants discovered their carrier status, what motivated them to get tested, what it was like to find out, how they processed the information, how their life changed (or didn’t change), and how they feel about being a Rare Carrier now.