51: Amy Draper: Waiting Over a Year For A Diagnosis of Aarskog-Scott Syndrome

Amy Draper is my guest this week talking about her 18 month old son Donnie. Amy was told at 13 weeks pregnant there was a high chance her baby had Down syndrome but when he was born it was clear it was something else. After waiting a year for full genetics results Donnie was diagnosed with the very rare Aarskog-Scott syndrome. We talk about how it felt to be expecting one diagnosis only to receive a different one, the lack of support and information when dealing with such a rare syndrome, and why Amy feels in limbo without a clear medical plan to move forwards with. The charity Amy mentions in this episode is here:www.aarskogsyndromefoundation.co.uk Trigger warning: we discuss baby loss in the episode so please listen with care