[Rare World]

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. 

From 2018 to 2022, I jumped in where needed with the Association for Creatine Deficiencies. I led the Scientific and Medical Advisory Board, helped land the CZI Rare As One grant, kicked off the the Coriell biosample collection for open research, secured a PCORI capacity-building grant, and got a new patient registry off the ground through NORD. I also recruited new board members so the work could keep going. I pushed hard, burned out a bit, and got a fast education in nonprofit operations and people leadership. I came out of it with friends for life.

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