Sept. 24, 2024
"Navigating the healthcare system can be overwhelming, no matter who you are, but this can be particularly challenging for families with very sick children," says Amie E. Jones, M.D., chair of the Department of Pediatrics and Adolescent Medicine and medical director of the pediatric Complex Care Clinic at Mayo Clinic in Rochester, Minnesota.
Whether a patient is undiagnosed and still searching or has recently learned that their constellation of symptoms has a name, the pediatric Complex Care Clinic at Mayo Clinic Children's Center offers a coordinated home base for families searching for answers.
"Our integrated complex care clinic allows us to take a holistic view of a child's health and work closely with our speciality colleagues to help solve the toughest cases. Our medical teams are experts at what they do, and patients benefit from Mayo Clinic's advanced diagnostic and imaging capabilities — getting these families closer to an answer."
Aaron's story
In the spring of 2023, 2-year-old Aaron arrived at the pediatric Complex Care Clinic with his family. "Aaron was referred to us with a combination of symptoms that didn't have a unifying diagnosis," says Alexander E. Gurfinkel, M.D., a pediatrician at Mayo Clinic in Rochester, Minnesota.
Aaron was healthy at birth, but his parents soon started to notice a variety of symptoms. By his first birthday, he was severely underweight, his growth had stalled, and he was failing to thrive.
"He had received a diagnosis of eosinophilic gastrointestinal disease prior to coming to us, but we wanted to expedite further evaluation to determine what else might be going on," says Dr. Gurfinkel. "Within the first week that he was at Mayo Clinic, we organized a comprehensive assessment with seven more specialists, which led to the correct diagnosis."
After thorough imaging, lab testing and comprehensive evaluations by his multidisciplinary team, Aaron was diagnosed with X-linked chronic granulomatous disease (CGD). CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory responses resulting in granuloma formation and other inflammatory disorders.
He was started on immunosuppressants and prophylactic antibiotics. Within three weeks, he started to gain weight, and his energy level increased exponentially.
"The only curative option for Aaron's chronic granulomatous disease is hematopoietic cell transplantation," says Mira A. Kohorst, M.D., a pediatric hematologist-oncologist at Mayo Clinic in Rochester, Minnesota. "Aaron is lucky in the sense that he has a fully matched sibling donor."
"To prepare Aaron's body to receive the new stem cells, he had to undergo a chemotherapy conditioning regimen and stay in the hospital until the new cells engrafted," says Dr. Kohorst. "Of course, there are many risks involved in this procedure, but Aaron weathered all of them well."
"His engraftment was successful, and we are happy to report that Aaron's condition has been cured," says Dr. Kohorst. "Though he is not entirely out of the woods, there is certainly hope for a bright future ahead."
"Aaron's story is very special," says Dr. Jones. "We are incredibly lucky to serve children like Aaron and his family in our pediatric Complex Care Clinic. We know how important it is for families to get the answers they need for their child as they navigate difficult medical journeys. We're honored to be a partner in helping to find a clearer path forward to health and healing, so kids can focus on being kids, not just patients."
For more information
Refer a patient to Mayo Clinic.