Welcome to SODRE Foundation

A rare disease is a condition that affects a small percentage of the population. In the United States, a disease is considered rare if it affects fewer than 200,000 people. While each individual disease may be uncommon, rare diseases are actually more common than many people realize. There are over 10,000 known rare diseases, and together they affect more than 300 million people worldwide.

For our family, “rare” has never just meant statistics. It means navigating uncertainty, learning along the way, and finding community in places we never expected. Behind every diagnosis is a person, a family, and a story that deserves to be seen and understood.

 DDX3X syndrome is a rare genetic condition caused by a mutation in the DDX3X gene. Most cases occur spontaneously at conception, though in some cases it can be inherited. The syndrome was first identified in the United States in 2014 and primarily affects girls because the gene is located on the X chromosome, though boys can be affected as well.

Although only a little over 1,000 individuals have been identified worldwide, researchers believe DDX3X syndrome may account for 1–3% of unexplained intellectual disabilities in females.

DDX3X syndrome is often initially misdiagnosed as autism spectrum disorder, cerebral palsy, Rett syndrome, Dandy-Walker syndrome, or simply labeled as developmental delay. It can be associated with intellectual disabilities, autism, seizures, low muscle tone, differences in brain development, and delayed physical milestones.

One of the most important things to understand about DDX3X syndrome is that it exists on a very broad spectrum. Some individuals are able to speak in full sentences, while others are nonverbal. Some are able to walk, run, and participate in sports, while others require more significant physical support.

For our family, DDX3X is part of Sophia’s story, but it does not define who she is. Sophia is joyful, determined, expressive, and deeply loved. Through her, we’ve learned the importance of inclusion, patience, advocacy, and seeing value in every individual exactly as they are.

 Awareness creates understanding. Many rare diseases are so uncommon that families often spend years searching for answers before receiving a diagnosis. Greater awareness can help lead to earlier diagnoses, stronger support systems, more research, and a more compassionate world for families navigating the unknown. Awareness also helps make rare diseases feel less invisible. Even a single conversation, shared story, or moment of representation can help someone feel seen and less alone.

 Representation matters because everyone deserves to feel seen. People with disabilities and rare diseases are often underrepresented in media, storytelling, fashion, education, and everyday spaces. When representation is missing, it can make families feel isolated or overlooked. Seeing people with disabilities included and celebrated helps challenge stereotypes and reminds people that differences should not be hidden. Representation creates visibility, understanding, and belonging, especially for children growing up rarely seeing themselves reflected in the world around them.

 To us, inclusion means creating spaces where people feel genuinely welcomed, valued, and able to participate as themselves. It’s more than simply being invited into a room — it’s about belonging once you’re there. Some of the most meaningful experiences in our lives have come from communities that chose patience, kindness, and understanding first. Inclusion can look like adaptive sports, accessible events, supportive classrooms, or simply taking the time to understand someone’s perspective. Small moments of inclusion can make a lasting impact.

 One of the biggest things people can do is simply take the time to learn and care. Rare diseases can often feel isolating, especially when so few people understand them. Sharing stories, spreading awareness, supporting advocacy organizations, and creating inclusive spaces can make a real difference. You don’t have to do something huge to help. Sometimes even a conversation, a shared post, or making someone feel included can have a lasting impact.