When a child is diagnosed with a rare condition, parents are often thrust into an unfamiliar world. For Dana Maier, a clinician and parent-advocate, the journey began when her child was diagnosed with situs inversus, a rare condition that reverses the location of organs in the body.
In her son’s first year of life, Dana and her husband visited 15 specialists and attended 68 doctors’ appointments. Like many parents facing a rare diagnosis with more questions than answers, she began searching for information to better understand her child’s condition. Due to the rarity of situs inversus, which affects one in 10,000 people, much of the available literature was outdated. Dana accessed the Kids First Data Portal, an open-access resource that provides robust genetic and clinical data for pediatric cancers and congenital conditions. For the first time, Dana uncovered relevant and child-specific data on situs inversus. The Kids First data portal offered information about population statistics, characteristics, and other conditions that occur with situs inversus.
In Dana’s experience, many of the risks described by providers were not well defined. By exploring Kids First datasets, she was able to identify the most common characteristics that children diagnosed with situs inversus experienced. When asked what the most meaningful or surprising aspect of the Kids First data was, Dana replied “I think it was the cardiac defects being so highly reported…a lot of the literature doesn’t reflect that. I think a lot of the patients in our community are not connected to a cardiologist despite having this rare diagnosis. We were able to give this information that we needed to encourage patients to be connected to those specialists.” Dana presented her situs inversus findings from the Kids First data portal at NIH Rare Disease Day 2026 to better inform the rare disease community.
While navigating this unique diagnosis, Dana founded the Situs Foundation, a nonprofit organization dedicated to supporting families affected by situs inversus. The Foundation has supported families and created a strong community of people across the country who have children with situs inversus. Dana and other members of the Situs Foundation developed a new doctor’s appointment checklist for parents based on information from the Kids First database.
For families navigating the rare disease world, information is a guiding light. Access to the latest research data is critical for making informed decisions. Through the Kids First Data Portal, parents can explore data on their child’s condition and turn knowledge into action.
