When Audrey and T.J. Duggan visited the pediatrician’s office with their five-day-old baby, Dean, for a weight check in October of 2018, they noticed the nurse was wearing a mask.
“She had a mask on and I thought, ‘That’s terrible. What is she doing here if she is sick?’ And then our pediatrician came in with a mask,” said Audrey.
At that point, the couple realized the doctor and nurse wore masks as a precautionary measure to keep Dean safe.
“The pediatrician kept it very vague. She said ‘Just so you guys know, one of the newborn screening tests came back abnormal with very low T cells, so I need to get more blood work done so we can perform confirmatory testing,” recalls Audrey.
“In the meantime, I want you to stop breastfeeding until we can verify it is safe, and don’t go anywhere or have any visitors.”
Later that same evening, Audrey Googled, “What newborn screening test involves T cells?” and quickly found reference to severe combined immunodeficiency (SCID). SCID is a life-threatening primary immunodeficiency in which a baby is born with no immune system. Babies with SCID need treatment within the first year of life as any type of infection could be fatal.
“I knew right then that he was going to need a bone marrow transplant,” said Audrey.
Audrey also discovered the Immune Deficiency Foundation (IDF) during her research.
“On that very first day, when I Googled, I found IDF. It then became the source of information recommended to me by doctors to share with family and friends as they all had questions about what we were facing,” said Audrey.
After a brief period of isolation at home, the low T cells were confirmed, and the Duggans took Dean to Rady Children’s Hospital in San Diego where doctors told them Dean’s most common diagnoses could be SCID, DiGeorge Syndrome, or HIV.
They spent the next 10 days in the neonatal intensive care unit as doctors sequenced Dean’s genome, tested Dean’s heart, performed a CT scan on his thymus, and swabbed his cheek for an HLA typing to help determine a match for his bone marrow transplant, also known as a hematopoietic stem cell transplant (HSCT). Doctors also started Dean on a regimen of antibiotics, antifungals, and antivirals. As the test results started to come back, it became clear that Dean most likely had SCID.
Meanwhile, Dean’s grandparents helped deep-clean their house, assumed care of their dogs, and ordered hospital-grade air purifiers to reduce germs in the home and minimize the risk of infection to Dean.
On Nov. 23, after being sent home once again in isolation, the couple learned that Audrey’s intuition and research proved correct. Dean did, in fact, have X-linked SCID.
The Duggans remained in isolation, wore masks, used hand sanitizer, washed their hands constantly, and even had to boil Dean’s bath water, all while simultaneously managing a medication schedule and a newborn.
After considering both an HSCT, and gene therapy as treatments, the Duggans opted for an HSCT clinical trial at Children’s Hospital Los Angeles.
Dean entered CHLA on January 2, 2019. Doctors placed a central intravenous line in Dean’s chest and began performing all of the pre-transplant testing required to be cleared for treatment.
Eventually, Dean was given antithymocyte globulin, and a low dose of chemotherapy for seven days to prepare his body to accept the donor stem cells. Dean experienced nausea, vomiting, rash, and fever. He even needed oxygen support from the medications but continued to eat well and smile through it all.
“All of these bad symptoms Dean experienced were not from SCID, but the treatment for SCID” remarked Audrey. “It is a hard thing to wrap your head around at first, since no babies with SCID initially appear sick.”
On January 22, 2019, Dean received the lifesaving transplant, and then came the waiting.
“The time after transplant and until engraftment was the absolute worst. We were riding a daily rollercoaster of blood results,” said Audrey.
A major turning point in HSCT is engraftment, which is the process of the donated blood-forming cells making new healthy cells. These new cells provide an immune system.
As Audrey and T.J. stayed by Dean’s side in isolation at the hospital, they made sure their baby didn’t fall behind developmentally. They read stories to Dean, gave him tummy time, and stayed on top of the occupational and physical therapy exercises.
“We needed to make a conscious effort to work on these things,” said Audrey. “We wanted to be intentional with our time with him, and still have as much fun as we could.”
Finally, 24 days after the transplant, Dean’s results showed engraftment, and soon after, Dean was able to be discharged to a rental house nearby in LA.
Each week, Dean would return to the CHLA clinic for check-ins with the HSCT team and bloodwork. On day 100 post-transplant, their time away from home finally came to a close when doctors allowed them to return to San Diego.
“We celebrated every victory, even the small steps – making it to admission day infection free, making it through conditioning, making it back home,” said Audrey. “We tried to acknowledge every step along the way because each one was closer to a healthy Dean. We tried not to look too far ahead because this is a long journey.”
By late summer of 2019, Dean slowly started taking trips out of isolation to open air places and got to meet family and friends. Dean’s favorite outing was his trip to the San Diego Zoo Safari Park to celebrate his first Life Day in January of 2020.
Also in January, the Duggans got an email from the transplant coordinator giving them Dean’s donor’s contact information.
So far, they’ve only made phone contact with 26-year-old South Carolina resident Kyle, Dean’s donor, but they’ve developed a fast friendship and exchanged gifts. The Duggans sent Kyle a care package which included a photo of Dean wearing an “I Found My Match” t-shirt; a “Dean Team” t-shirt; a card with Dean’s handprint on it; and other cards and letters of thanks from family members. Kyle sent Dean a soccer ball and a book, both of which became favorites for Dean.
“Kyle feels very close to Dean, that’s for sure. The bond between them is so special, and we can’t wait for them to meet one day,” said Audrey. “Kyle is forever a part of our family.”
Dean is now 19 months old. His latest blood work indicates that his immunoglobulin is increasing without infusions and he’s been able to begin vaccines.
“We celebrated that this weekend. This process involves so much waiting, and it feels so incredible to not be waiting on anything anymore,” said Audrey. “Dean has finally reached his final immune recovery milestone.”
Audrey said that while having to be in isolation and not see family and friends due to the pandemic is difficult, Dean can still enjoy running and playing outside.
“Dean has the most beautiful spirit. He is so loving, calm, and eager to learn. Watching him explore and his enjoyment for the outdoors has been amazing to watch, especially after spending the first six months of his life indoors,” said Audrey. “We are so grateful to be his parents – SCID is just a small part of his story.”
Through it all, IDF has proven a valuable resource for the Duggans.
“IDF has played a critical role in our journey by providing a reliable source of information and support in our darkest times,” said Audrey.