Brothers Jerrick and Evian are three years apart – Jerrick is 5 years old and also the twin of their sister, Jelena. Evian is the baby of the family, a bubbly and energetic 2-year-old. Although years apart, they share a very special bond: Both were diagnosed with and treated for a rare, life-threatening genetic disease called X-linked chronic granulomatous disease (CGD).

“After a family barbecue one day, I was about to give Jerrick a bath and I noticed a huge bump on his chest,” explains the boys’ mom, Jessica. “I assumed a ball hit him because he was playing soccer and basketball that day, but all he told me was that ‘it hurt.’ Automatically I thought the worst, so I ended up taking him straight to the Emergency Center.”

It was a massive abscess caused by a common fungus, Aspergillus, that formed in his lungs and spread to his chest. After a surgery and treatment from a few local hospitals, the Daytona Beach family was referred to see Jennifer Leiding, M.D., an immunologist and allergy specialist for the University of South Florida at the Pediatric Allergy/Immunology Program at Johns Hopkins All Children’s Hospital and USF Morsani College of Medicine. Jerrick underwent another, more extensive surgery where two ribs and a large portion of his right lung were removed, and he received a skin graft.

“After the surgery, I think that was my lowest point when I just saw him lying there lifeless, but I felt like it was so amazing because within a couple of hours he was sitting up, willing to sit on a chair,” Jessica says. “Dr. Leiding ultimately told us it was CGD. She pretty much knew right away with all of the symptoms in the past with pneumonia because Jerrick actually got a couple of pneumonias every year.”

While a child with CGD may go without symptoms for a while, inevitably they will become very sick. Repeat cases of pneumonia are a key indicator of the disease. CGD can cause blood-borne infections, so common places for infection include the lymph nodes, lungs, liver and central nervous system.

“X-linked CGD is one of the most common, but most severe forms of CGD,” Leiding says. “Kids typically present within the first five years of life with either a life-threatening infection or some auto-immune complication from the disease.”

CGD Explained

CGD is a disorder that affects certain types of immune cells, which makes a person more susceptible to bacterial and fungal infections. X-linked means one of the genes in the X-chromosomes is mutated. Females have two X chromosomes and males have both an X and a Y. In Jessica’s case, she has one healthy X chromosome that does the job of the mutated X, which is why she doesn’t have the disease, but instead is a carrier. Carriers have a 50 percent chance of passing it along to their children — for sons, that means a 50 percent of actually getting the disease, and for daughters, becoming a carrier — in very rare cases does a female get this particular disease. About one in every 200,000 live births results in CGD.

“It was definitely a huge shock,” Jessica says. “It’s a condition I had never heard of throughout my entire life. My first thought is, ‘Is my son going to die from this? What are our options? Treatments?’”

Treatment for CGD

Johns Hopkins All Children’s Hospital has a Conjoint Immunology/Bone Marrow Transplant Clinic to treat specific transplantable immunodeficiencies like CGD. The only way to cure CGD is by a bone marrow transplant (BMT). Leiding works closely with Deepak Chellapandian, M.D., in treating CGD patients referred from all over Florida. Chellapandian is an assistant professor in the Johns Hopkins University School of Medicine and a Blood and Marrow Transplant Specialist at Johns Hopkins All Children’s Hospital who specializes in transplantation for nonmalignant blood disorders.

“The cure is, we need to get rid of this defective bone marrow producing those abnormal immune cells and need to replace them with healthy stem cells from the donor,” Chellapandian says. “The best match for any transplant is finding a sibling donor without the same disease.”

For Jerrick, his twin sibling Jelena turned out to be his perfect match. While testing Evian, Jerrick’s younger sibling, the team found out that he, too, has CGD. “He did not have any symptoms at all. We just incidentally found out through routine screening that he had the same genetic mutation,” Chellapandian says.

But it would have only been a matter of time before Evian would get sick, too, and he would also need a BMT. Fortunately, a non-family member donor match was identified for Evian, and both brothers had transplants within a few months of each other.

“Finding a donor for rare populations is always difficult,” Chellapandian says. “Anyone can register to be a donor, so I strongly encourage every adult, especially of rare ethnicity, to join the Be The Match registry.”

It was nearly two years of treatment, hospital stays, appointments, tests and traveling to and from Daytona Beach for Jessica and her boys.

“My mind was always racing when it came to do the doctor appointments, I had to be strong for them,” Jessica says. “The doctors were my support system.”

The BMTs were successful and now Jerrick and Evian are healthy, energetic, and most important, clear of CGD. They continue to have follow up appointments, which decrease with time.

“They are cured,” Jessica says. “Now is a time where I can actually allow them to be free, allow them to be the kids that they deserve to be.” 

Deeper Studies into CGD and Immune Deficiency at Johns Hopkins All Children’s Hospital

Leiding and Chellapandian serve in a national group called the Primary Immune Deficiency Treatment Consortium (PIDTC). It is a National Institutes of Health-funded consortium that studies treatment outcomes of patients with immune deficiency, and Johns Hopkins All Children’s is the only center in the state of Florida involved with PIDTC.

Leiding specifically leads PIDTC protocol #6908 that investigates disease manifestations and treatment outcomes of CGD, while Chellapandian is developing a clinical trial to treat children with CGD and other rare immune deficiency disorders using a novel transplantation technique where he uses a half matched (haploidentical) family member as donor.

Jennifer Leiding, M.D., is on the medical staff of Johns Hopkins All Children’s Hospital, Inc. (“JHACH”), but is an independent practitioner who is not an employee or agent of JHACH.