April 14, 2025
Mukti Reddy’s journey began with what seemed like a typical autism diagnosis for her son, Kautik . However, as time passed, she felt something wasn’t right. Kautik ’s developmental delays and behaviors didn’t align with a standard autism diagnosis, and Mukti knew there was more to the story. Her instincts told her that his symptoms were part of a bigger, underlying issue.
Overcoming Barriers to Genetic Testing
Despite her concerns, finding answers was not easy. She encountered numerous barriers in the healthcare system, and accessing genetic testing proved to be a challenge. Doctors initially focused on Kautik ’s autism diagnosis and were slow to consider other possibilities. But Mukti refused to give up. She continued advocating for her son, determined to uncover the full picture.
A Life-Changing Diagnosis
Her persistence finally led to the genetic testing she had long pursued—revealing that Kautik had ASH1L syndrome, a rare neurodevelopmental disorder.
Finding Community and Support
Through this journey, Mukti discovered firsthand the importance of genetic testing, especially when conventional diagnoses don’t seem to fit. She eventually connected with Simons Searchlight, a platform for families affected by rare diseases, where she found support and a community willing to share their experiences.
Turning Challenges into Advocacy
This experience not only highlighted the gap in rare disease awareness but also fueled Mukti’s passion for advocacy. In 2020, she co-founded Care4ASH1L, an organization dedicated to supporting families affected by ASH1L syndrome. The idea was sparked when she and another mother—both searching for answers for their children—heard a CBC podcast about another rare disease family. That moment set them on a path to build a resource for others navigating the same challenges.
A Mission to Help Other Families
Today, Mukti serves as the Chair of the Board & President of Care4ASH1L, working to raise awareness, advance research, and ensure that families like hers don’t have to walk this journey alone.
🔗 Learn more about Care4ASH1L: www.care4ash1l.com/aboutus
