Miller’s second chance: A story of hope and healing through a life-saving bone marrow transplant

Garyn and Joshua Gamberi began their journey of parenthood with hopeful anticipation, unaware of the challenges that awaited them. The couple experienced immense joy and relief when their first child, Miller, arrived into the world as a healthy newborn, tipping the scales at an impressive 9 pounds.  

“From the moment Miller was born, he loved to eat,” said Garyn. “When he was around 6 months old, we noticed he wasn’t eating. It was very strange. At that point, we knew that something was wrong.” 

For a month, the Gamberis found themselves engaged in ongoing communication with their son’s pediatrician, desperately seeking answers to his persistent feeding difficulties. During a follow-up appointment, they noticed Miller’s unusually low oxygen levels and abnormal complexion. Subsequent tests revealed Miller had PJP pneumonia, a fungal lung infection that typically afflicts people with weakened immune systems. 

“From our pediatrician’s office, Miller was transported by ambulance to the closest ER in Covington,” recalled Garyn. “The doctors performed a chest X-ray to investigate the situation further because his symptoms didn’t seem indicative of pneumonia. The X-ray showed his lungs were filled with fluid. Our son was airlifted to Children’s Hospital New Orleans and admitted to the pediatric intensive care unit.” 

Miller endured a three-week stay in the PICU, spending two of those weeks intubated due to the severity of the pneumonia. He received Bactrim, a medication that gradually helped clear his lungs. Throughout his entire month-long hospitalization, Miller relied on a feeding tube for his feeds and medications. Once stabilized, he was transferred to another hospital floor, where his care team continued monitoring him.  

“His doctors didn’t want to discharge Miller until they reached a conclusive diagnosis for his perplexing condition,” said Garyn. “It took a ton of tests to finally figure out what was wrong with our son.” 

A confirmed diagnosis 

At 7 months old, Miller was diagnosed with MHC Class II deficiency, a rare genetic disorder that affects the immune system. The deficiency can make individuals more susceptible to recurrent and severe infections, including bacterial, viral and fungal infections, such as pneumonia that Miller experienced. 

Dr. Luke Wall, a pediatric allergist and immunologist at Children’s Hospital, diagnosed Miller’s condition which involved meticulous examination of Miller’s DNA. “Diagnosing MHC Class II deficiency involves a combination of clinical assessments, immunological tests and genetic analysis,” explained Dr. Wall. “Diagnostic methods include DNA sequencing to identify specific mutations within genes associated with MHC Class II molecules. Additionally, immunophenotyping evaluates surface markers on various immune cells to identify abnormalities in MHC Class II expression.” 

Dr. Wall continued, “At one point Miller sent us back to the drawing board. The initial labs of his immune system combined with his clinical presentation matched perfectly with a classic immunodeficiency called X-Linked Hyper-IgM. Our entire team was convinced of the diagnosis. We were quite surprised when we received the lab report which we expected to confirm the diagnosis, but in fact we were left with no answers. We continued to press forward and expand testing until we confirmed that Miller has MHC Class II Deficiency caused by an exceedingly rare molecular defect. His parents are incredible and were so patient through the entire process.”    

“Dr. Wall said the tests were akin to visiting a library and reading every single book in the library and checking for typos,” said Garyn. “That’s how deep they went into researching Miller. When discussing his illness, Dr. Wall said Miller had soldiers but they didn’t have weapons. His body had certain things to fight infection but it didn’t have all the weapons to fight it. As a result, his immune system was weak.” 

For the Gamberis, it was hard to learn about their son’s diagnosis. They described their experience as “terrifying” but the couple tried to remain positive for Miller and hoped for a promising outcome. 

Treating his rare condition 

To treat MHC Class II deficiency and strengthen his compromised immune system, Miller received intravenous immunoglobulin (IVIG) infusions, also known as immunoglobulin replacement therapy. Immunoglobulins are antibodies produced by the immune system to aid in fighting off infections. 

In addition to IVIG, Miller received a combination of antibiotics, antifungals and antivirals to combat infections. However, these measures were temporary as doctors emphasized a bone marrow transplant was essential for long-term improvement. While the treatments helped Miller improve his well-being, he had to remain isolated at home to minimize the risk of infection due to his immunocompromised state. 

“The goals were to keep him healthy until he was ready for a bone marrow transplant,” said Garyn. “We began seeing Dr. LeBlanc, who performed the bone marrow transplant once we got a donor match.”  
Dr. Zach LeBlanc is a pediatric hematologist and oncologist at Children’s Hospital New Orleans. 

The road to transplant 

In October 2022, Miller was put on the Be the Match Registry. His DNA and  human leukocyte antigen (HLA) typing, a protein found on most cells in the body including cells in the immune system, were compared to everybody else on the bone marrow registry. The closer the HLA match, the better chance a bone marrow transplant will be successful.  It took about three months before a donor match was found.  

“On January 18, 2023, the Gamberis received the best news of all: We have a match!” 

“We were hoping and praying that somebody would be a match, and whoever was called, the donor would say yes,” said Garyn. “And when that happened, it was the most incredible feeling in the world.” 

Before the transplant, Miller underwent an intensive conditioning regimen that involved chemotherapy. The purpose of this step was to eliminate the diseased or malfunctioning bone marrow, suppress his immune system, and create space within the bone marrow for the transplanted blood cells to grow. 

“We prescribed different chemotherapy drugs for one week prior to his transplant,” said Dr. LeBlanc. “We adjusted the dosage of the medication since he was young and very small. Once the conditioning regiment was complete, we infused the donor’s stem cells into Miller. The stem cells then travel to the bone marrow and start producing new blood cells. We essentially reprogrammed his immune system.” 

Miller had his first bone marrow transplant on February 14, 2023. However, a little over a month later, he needed  another bone marrow transplant because the first one wasn’t successful. “With the first one, he was put on remdesivir for COVID since he tested positive which can potentially lower white blood cell counts, and doctors thought that could have caused the first transplant failing. As soon as he stopped the remdesivir, his blood counts started going up. After the second transplant he had a better outcome.” 

“The fact that Miller’s first transplant was unsuccessful is not surprising in the setting of his specific immunologic defect,” added Dr. Wall. “The molecule that Miller was unable to express, MHC Class II, is vital for communication within the immune system. It is vital not only for presentation of foreign ‘invader’ proteins to the immune system in a way that allows the immune system to recognize or “see” the foreign proteins, but it also plays an essential role as new T cells, vital cells of the immune system, are developing in a central immunologic organ called the thymus. This impaired immunologic communication poses a threat to the transplant process of engraftment, or the establishment of the new immune system from the donor bone marrow cells. MHC Class II Deficiency is a very challenging immunodeficiency to treat with bone marrow transplant.” 

Since his bone marrow transplant two months ago, 1-year-old Miller is thriving. He’s active, happy and experiencing no complications. Currently on immunosuppressive drugs, his doctors plan to gradually reduce his medication intake and monitor his body’s response. The true success of the transplant will be determined when he receives vaccinations again. Dr. LeBlanc continues to oversee his follow-up care. 

The Gamberis are thankful to all the doctors and nurses who took great care of Miller. The couple have developed a newfound understanding of the challenges faced by other families in similar situations, an experience they never anticipated for themselves. Garyn shares, “Miller’s doctors were truly remarkable. They communicated his care and treatment in a manner that I could understand. The nurses became like an extension of our family. Throughout our journey, we stayed positive and advocated tirelessly for our son. We are eternally grateful to the bone marrow donor who granted our baby a second chance at life.” 

For more information about our Bone Marrow Transplant Program, click here to visit our website.