[Rare World]

[Or How I got into Patient Advocacy]

On June 13th 2017, we found out why my adorable kiddo was showing global developmental delays, had barely started walking at two and half, and had no words even though he was so eager to communicate and engage socially. Rohan has a rare genetic disease called Creatine Transporter Deficiency (CTD) due to a mutation on gene SLC6A8. CTD is one of three Cerebral Creatine Deficiency Syndromes and the one that does not have a treatment. All three diseases are massively under-diagnosed and lead to severe speech and intellectual disabilities. Since June 2018, I've served as the Director of Research for the Association for Creatine Deficiencies where my mission is to enable research into creatine deficiencies. I also lead the interactions with our Scientific and Medical Advisory Board and sometimes get invited to give talks on the work we do at the ACD.

Patient Leader for the CZI Rare as One Project

Talk @ World Orphan Drugs Conference
One organization, three diseases - bringing together common Cerebral Creatine Deficiency Syndromes to build a platform for research