Resilient, relentless, and rare: A family’s journey through medical uncertainty
Athan Landman was 7 months old when his parents first noticed something was wrong. Doctors in their home state of Alabama discovered a rapidly growing mass on his liver. Initially believed to be a large hepatic hemangioma, the lesion behaved unpredictably and continued to grow. Athan ultimately needed a liver transplant before his second birthday.
The transplant brought lifesaving care, but not clarity. As Athan grew, his mom Cassidy began noticing additional physical differences — limb-length discrepancies, a birthmark running down the right side of his body, and symptoms that did not fit neatly into a single diagnosis. Genetic testing offered no clear answers, and new medical concerns continued to emerge. Then, the family had the opportunity to move to Minnesota, home to M Health Fairview Masonic Children’s Hospital, a NORD Rare Disease Center of Excellence. Here, the family found their resilience was not only recognized but mirrored by a team of dedicated specialists determined to help them find the answers they needed.
A rare disease that has no name
When our teams first began searching for answers, an MRI uncovered new areas of brain damage that were not there months prior – evidence Athan had suffered several strokes. An angiogram confirmed several of his cerebral blood vessels were extremely narrowed, restricting blood flow and depriving his brain of oxygen and nutrients. Based on these findings, they diagnosed him with Moyamoya disease and moved quickly to perform brain surgery.
“It saved his life,” Cassidy said. “Not many surgeons are comfortable even performing that surgery. We are just so grateful for this team who is taking care of him.”
Unfortunately, Moyamoya does not account for the full constellation of Athan’s symptoms. “Athan is the perfect example of someone living with a rare disease,” said Nishitha Pillai, MD, a pediatric geneticist with M Health Fairview and an assistant professor at University of Minnesota Medical School.
For many families like the Landmans, a definitive diagnosis never comes. “It’s definitely very frustrating,” Pillai said. “You have this sweet kid in front of you, but so much of his body is affected by this.”
Athan also has multiple hemangiomas, bone lesions, and asymmetric growths affecting predominantly the right side of his body. This pattern strongly suggests a genetic cause but one has not been identified through standard testing. Despite the lack of answers, our teams of specialists including geneticists, neurosurgeons, orthopedic surgeons, and oncologists continue to collaborate closely with the family and each other to provide Athan the best care available.
“We are going to continue to fight for him,” Pillai added.
Searching for answers while treating Athan
According to Pillai, Athan’s condition is consistent with a somatic genetic change — a mutation present only in certain parts of the body rather than every cell. These types of conditions are especially difficult to detect. Standard genetic tests using blood or saliva and even some bone biopsies, may miss the mutation entirely. Negative results, she explains, don’t rule out a genetic cause; they reflect the limits of current technology.
Over the years, Athan has undergone extensive clinical and research-based genetic testing, including exploration of a possible PIK3CArelated pathway. While testing has not confirmed a unifying diagnosis, his care team has continued to manage symptoms as they arise — from neurological monitoring to orthopedic surgeries addressing bone lesions and limb differences. During an upcoming procedure to remove the plates in his legs, doctors plan to obtain another bone biopsy, hopeful that advancing science may finally provide answers.
“It’s right in front of us,” Dr. Pillai said. “We just don’t have the tools yet to identify it.” Still, the search continues — the team is not giving up.
The power of trust and teamwork
For Cassidy, one of the most meaningful aspects of Athan’s care has been the collaboration among specialists. “We didn’t really have that before moving here,” she said. “The oncologists, the liver transplant team, neurologists, they all communicate to discuss Athan’s case. It is very reassuring and helpful, and maybe one day we will have an answer.”
This teamwork helped build trust for the Landmans, something Pillai has also noted as one of the most essential elements in rare disease care. “Despite the uncertainty and length of this journey, Athan’s parents have remained engaged, hopeful, and trusting of the care team here. It’s an important part of this process. They are really inspirational.”
More than a diagnosis
Now 8 years old, Athan continues to navigate chronic pain, recovery from surgeries, nutrition challenges that requires a feeding tube, and developmental challenges, including autism. He uses a wheelchair for long distances due to fatigue but remains an active boy where it counts. “He loves what most kids love,” Cassidy said. “He loves building with Legos, playing with cars, and watching Paw Patrol, especially Marshall. He loves Marshall.”
For his family, Rare Disease Day is not just about awareness — it’s about recognizing the resilience of children like Athan and the reality that not every rare disease comes with a clear name or prognosis.
The goal is not only to treat symptoms, Pillai shared, but to shorten the diagnostic odyssey for Athan and for countless others still searching for answers.
