Community Health and Child AdvocacyPatient Stories Beyond Severe Combined Immunodeficiency (SCID): Aria’s Story

Shauna recalls the moment vividly: "Aria was born on her due date, and it was the most perfect birth. She was healthy and happy." Aria was less than a week old when the pediatrician called to inform them that Aria's newborn screen indicated Severe Combined Immunodeficiency (SCID). When Shauna inquired about the condition, the pediatrician explained, "This is a condition when kids get sick, they just get sicker." Shortly thereafter, Shauna received a second call from Debra Ellis, NBS, RN, program manager of the Connecticut Newborn Screening Network, located within Connecticut Children's Office for Community Child Health.

What is newborn screening?

Newborn screening, conducted approximately 30 hours after birth, involves a few drops of blood and a simple hearing test. This public health service identifies babies at increased risk for certain conditions before symptoms appear, allowing for early treatment. It is not a diagnostic test but indicates if further testing is needed. In Connecticut, every newborn undergoes this screening.

>Related: Newborn screening tests are crucial. Here's why, and what you should be asking.

The Road to Diagnosis: What is SCID?

SCID is a rare genetic disorder causing life-threatening immune system issues. Children with SCID appear healthy but are highly susceptible to severe infections. The condition is fatal, typically within the first year or two of life, unless treated with immune-restoring therapies.

Shauna was connected with Dr. Hassan El Chebib, a physician in Connecticut Children's Division of Infectious Disease and Immunology, who explained SCID and the next steps. After a series of blood tests within a week, the Barretts' worst fears were confirmed: Aria had SCID and needed a bone marrow transplant from a regional hospital.

Dr. El Chebib provided human leukocyte antigen (HLA) testing kits to identify a donor match for Aria. Remarkably, Aria's three-year-old brother, Bodhi, was a perfect match. "That was my lottery," Shauna says, "Our family was so lucky."

Then, on April 14, 2022, Aria and Bodhi were ready for battle and the transplant was highly successful.

Aria now requires only one annual check-up with her transplant team. And she has a whole team at Connecticut Children's in her corner for regularly scheduled follow-up appointments. For the family, this is a full-circle moment, from newborn screening to being under the care of experts 100% dedicated to kids.

"My Daughter is Alive Because of Newborn Screening"

"My daughter is alive because of newborn screening," Shauna shared. "It means everything to me. I have my daughter because of it." Shauna is a strong advocate for newborn screening, understanding firsthand how it saves lives.

Aria Today

Now two years old, Aria is independent, smart, a great dancer and singer, a fast friend-maker, and the epitome of life. She attends daycare five days a week and has successfully fought off various germs and illnesses. Shauna remarks on the bond between Bodhi and Aria: "They are connected beyond just a sibling bond. It's a beautiful thing."

My daughter is alive because of newborn screening. It means everything to me. I have my daughter because of it.

The Barretts consider themselves part of the "Connecticut Children's family" and are forever grateful for the care they received from Natalie Bezler, MD and the nursing staff in Connecticut Children's Hematology/Oncology department. This dedicated team performed lab tests and administered any necessary infusions. Shauna recalls, "Dr. Bezler was fantastic, as was the entire nursing staff within the department. They are truly special people, those who choose to work with this population of kids. I will never forget their compassion and pure kindness."

While there are unknowns about long-term outcomes, they are thankful for the experts at Connecticut Children's. Shauna shares emotionally, "I will never forget Dr. El Chebib. He was such a comfort and so full of knowledge. He provided friendship and comfort in a time when we felt totally alone."

The Connecticut Newborn Screening Network addresses all flagged newborn screens with a team of board-certified physicians, genetic counselors, registered nurses, and a nurse analyst. Since its launch in May 2018, the Network has improved newborn screening by reducing diagnostic wait times, linking families with providers, and ensuring long-term follow-up care. By identifying disorders early, the Network facilitates interventions to prevent most health problems identified on the screening panel and coordinates with primary care providers to manage diagnostic work-ups, support families, and track outcomes from birth to age 21.