The World’s Only Known Case, But Still Thriving
River was born at a nearby hospital in January 2019. Shortly after his birth, his parents, Lauren and Rick, noticed some unusual bruising on his back. Doctors couldn’t immediately identify the cause. At his first pediatrician visit the morning after he was discharged, the physician agreed something was wrong and promptly referred River to the Hematology Department at UPMC Children’s.
Doctors quickly began testing for a range of bleeding disorders. Just one day later, pediatric hematologist Frederico Xavier, MD, called with a diagnosis: River had factor VII deficiency, a rare genetic disorder that affects the blood’s ability to clot. It occurs in only about one in 500,000 people worldwide.
But that was only the beginning.
Literally One-of-a-Kind
Despite the diagnosis, River continued to suffer from frequent, spontaneous nosebleeds and gastrointestinal bleeding. His hematology team ordered more tests, and at just 9 months old, River was diagnosed with a second rare bleeding disorder: Glanzmann thrombasthenia (GT). GT affects only one in one million people around the world.
To have even one of these disorders is incredibly rare, but to be born with both is medically unheard of. In fact, River is believed to be the only known person in the world diagnosed with both factor VII deficiency and GT.
Treating the Unknown
With no roadmap for such an unprecedented case, doctors at UPMC Children’s faced the daunting task of designing a treatment plan for 4-year-old River. As his condition became increasingly life-threatening, his parents decided that River would undergo a bone marrow transplant (BMT) with Paul Szabolcs, MD, and his team, who are leading figures in the field of transplanting for non-malignant conditions. BMT is a procedure that replaces diseased bone marrow with healthy bone marrow, and it is the only known curative option for GT. “Dr. Paul and his team hold a special place in our hearts,” Lauren shares.
Although the transplant was successful in curing River’s GT, he still had mild factor VII deficiency, as transplantation does not address this medical condition. At approximately four months post–bone marrow transplant, River developed a complication known as warm autoimmune hemolytic anemia (wAIHA), which can be difficult to treat. His journey continued with countless hospital visits and prolonged admissions, multiple infections, pulmonary emboli, and frequent blood transfusions — sometimes two or more transfusions per day just to keep him alive.
River spent his 5th birthday in the pediatric intensive care unit. Lauren and Rick say they were constantly terrified of losing their youngest child.
A Village of Support at UPMC Children’s
Through every twist and turn, the team at UPMC Children’s became more than just caregivers. “The amount of support we received — and continue to receive — from every single person and department at UPMC Children’s is like no other,” Lauren says. “All the nurses and doctors on the hematology unit became like family to us.”
Philanthropy-funded services like music therapy and art therapy gave River moments of joy and normalcy throughout his long and challenging treatment. Lauren recalls how Paige from the Child Life Department made sure River had fun almost every day. “He even went to his first prom while he was hospitalized — he was so excited to pick out and wear his gold tuxedo! He had the best time!”
Hope on the Horizon
In the summer of 2024, to treat his wAIHA — which had failed multiple first-, second-, and third-line therapies — doctors decided to start River on an experimental drug treatment plan. To the family’s immense relief, it worked. River received his last blood transfusion on August 12, 2024. He is currently in remission from wAIHA!
River is now 6 and thriving. Although he still takes multiple medications every day, he visits UPMC Children’s only for outpatient care. His parents say he is back to being a regular kid. “River loves RC cars, video games, riding his four-wheeler, and hanging out with his older brother, Kaison, and their friends. He’s finally enjoying life outside the hospital.”
Looking Forward
Lauren and Rick say they’re filled with gratitude and hope as they watch River regain his childhood. “He tells us he wants to be a doctor someday,” his mom shares. “Maybe he’ll use everything he’s been through to help another little boy or girl overcome their own medical challenges.”
River’s journey is a testament to the power of perseverance, expert care, and the unwavering love of family. Against all odds, he continues to forge his own extraordinary story. One filled with courage, resilience, and hope.
Ease Their Hardest Days
“We want to thank every single donor who supported us. Without your help, we wouldn’t have been able to stay by our son’s side in the hospital or keep up with our bills. We wouldn’t have had the peace of mind of knowing our next meal was covered. We are so deeply grateful for your generosity and selflessness.”
– Lauren and Rick, River’s parents