Dana Maier’s search for answers began before her son was even born.
During pregnancy, an abnormal finding on an ultrasound led to more scans, specialist visits, and questions about her baby’s kidneys and heart. Despite extensive testing, the full picture remained unclear until doctors confirmed that her son had situs inversus, a rare condition in which the internal organs are positioned opposite their usual locations.
When Dana left that appointment late one evening, she was alone, overwhelmed, and searching for information she could trust. A quick search on her phone offered little reassurance: outdated anatomical images, decades-old case studies, and information that captured only fragments of what her family might face.
“I remember sitting in my car trying to find answers, and everything I saw felt outdated or focused on the worst-case scenario,” Dana recalled. “I loved my son from the moment I knew I was pregnant. I just wanted to understand what this diagnosis could actually mean for him.”
That uncertainty followed the family through pregnancy and into their son’s first year, which became a near-constant rotation of specialist visits, testing, and medical appointments. Some providers had never treated a patient with situs inversus. Even routine care required Dana to remind doctors that her son’s heart was on the right side of his body or that an EKG needed modified lead placement.
As a nurse practitioner, Dana understood the healthcare system, but that knowledge often made its gaps more visible. Again and again, Dana and her husband had to explain their son’s anatomy, ask about associated conditions, and piece together information across specialties.
Dana found a new path forward at a National Organization for Rare Disorders conference, where a pediatric cancer researcher introduced her to the Gabriella Miller Kids First Data Resource Center (Kids First DRC) portal.
She initially assumed the resource would be limited to researchers or require an institutional affiliation. Instead, she found it easy to explore. A search for situs inversus returned data from 51 participants, a meaningful number for an exceptionally rare condition.
For the first time, Dana could see a broader picture of the conditions that appeared alongside situs inversus, including spleen abnormalities, skeletal differences, and specific cardiac conditions. The most striking finding involved the heart. In the group she reviewed, cardiac defects appeared in 78% of participants, compared with the 10% figure commonly cited in published literature.
“For a common condition, 51 patients might not sound like much. For a rare disease parent, it felt like hitting the jackpot,” Dana said. “It gave me information I could bring into appointments and helped me feel more confident about what questions to ask.”
Dana shared the findings with her son’s medical team. The data did not replace clinical guidance, but it helped her advocate for appropriate follow-up and explain to other families why connecting with a cardiologist may be important.
That instinct to make the path easier for others had already begun taking shape. Dana’s maternity leave had been consumed by appointments, testing, insurance calls, and the repeated work of telling their story. As she prepared to return to work, she kept returning to the belief that what her family experienced was not normal, and it was not okay.
She founded the Situs Foundation to provide support for other families that they had struggled to find. Today, the organization connects families through a virtual support group, distributes medical ID bracelets, develops education on right-sided EKGs, and works with a volunteer medical advisory board.
Dana also wrote The Mirror Within You, a children’s book that helps young patients understand their anatomy and medical care in an age-appropriate way. Her son, now two, can point to the right side when asked where his heart is.
At NIH Rare Disease Day 2026, Dana presented a poster informed by Kids First DRC data. For her, the experience underscored a larger idea: data equity is part of health equity.
When rare disease data is connected and accessible, families can do more than search for answers. They can enter care conversations with better questions, build resources for their communities, and help turn one family’s hard-won knowledge into a clearer path for the next.
Explore the Kids First DRC Portal.
Bluesky