Mar 24, 2022, 1:19:25 PM CDT Aug 3, 2022, 7:09:26 AM CDT

Siblings with cystic fibrosis share a special bond

Diagnosed with the genetic condition shortly after birth, Bash and Sami find the specialized care they need at Children's Health.

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Bash and Sami posing for a picture Bash and Sami posing for a picture

Sebastian, or "Bash," as his family and friends call him, is an active young boy who makes friends easily, says what's on his mind and is the happiest when he's swimming or running around with friends. He recently joined the track team and was determined to do his absolute best – even if he was the smallest and youngest competitor in the field.

In fact, looking at him, there is no way one would suspect that he or his younger sister Sami, who was born with the same condition, have both been managing a chronic medical condition that can affect their digestive system and their ability to breathe.

An unexpected diagnosis leads a family to Children's Health

Janeth, Sebastian's mom, says her pregnancy with Sebastian was typical. She had no cause for concern, especially since his two older siblings didn't have any health issues and she was pleased to have a relatively uneventful labor and delivery. His newborn screening, however, revealed that Sebastian was a carrier for cystic fibrosis, an inherited genetic condition that affects the body's ability to produce mucus, which can cause breathing difficulties and issues throughout the digestive tract. Soon after, an additional test confirmed that Sebastian wasn't just a carrier, he had the full genetic markings for the disease, and he was immediately referred to the Claude Prestidge Cystic Fibrosis Center at Children's Health℠.

"Before that, Bash's father and I had never even heard of cystic fibrosis, nor did we know we might be carriers," Janeth says. "At this time, we had two older children who had not shown any signs."

Sebastian's family met with a team of pulmonary and gastroenterology specialists, including Meghana Sathe, M.D., Pediatric Gastroenterologist and Co-Director of the Claude Prestige Cystic Fibrosis Center at Children's Health and Associate Professor at UT Southwestern, and Prigi Varghese, APRN, Nurse Practitioner in Pulmonology at Children's Health, who explained how cystic fibrosis can affect the different systems throughout the body and developed a treatment plan for his early days. The team determined that his pancreatic enzyme levels were low, so he began taking enzyme medications with every meal and began breathing treatments by the time he was four months old.

"We had appointments every two weeks, and for the first year of his life, it felt like we lived at the doctor's office," Janeth says. "It felt like an endless experience honestly, but through it all, he was a very happy baby."

As time went on, Sebastian's doctors adjusted his care as needed. His parents provided chest physiotherapy by hand until he was big enough to wear a vest that inflates and vibrates rapidly to help clear his lungs. After a continuous struggle to gain weight, a gastrostomy tube (G-tube) was placed into his stomach by surgery when he was 17 months old. Though the decision wasn't easy, Janeth says it was a game-changer.

"He has been thriving ever since," she says.

Sebastian and his younger sister, Samantha, share a special bond

Over time, Sebastian grew stronger and has been able to wean off some of the medications he needed in his earlier years. Janeth has also noticed her own growth throughout her son's journey, evolving from an overwhelmed parent learning of her child's new diagnosis to one who feels comfortable advocating for the care that best fits Sebastian's needs as he gets older, starts school and has new experiences.

One of those new experiences included becoming a big brother – twice! Shortly after his youngest sister, Samantha was born in 2021, a genetic test confirmed that she too had been born with cystic fibrosis. She joined her brother under Dr. Sathe's care, and though Samantha didn't display any of the same symptoms that Sebastian did as a newborn, other than difficulty gaining weight, she began pancreatic enzymes following her diagnosis as well. Eventually, Samantha also began daily breathing treatments with manual chest percussion therapy, but Janeth says her overall development is right where she should be, and she is doing well.

Though Samantha is still too young to realize the special bond she shares with her big brother, Sebastian is proud to have a sibling just like him.

"At this point, Bash isn't involved in her care as most of the time they're doing treatments at the same time and they're in their own rooms, but we'll see how things are when they're older," Janeth says. "Bash is very independent and aware of what he needs to do for his care, and I hope he can teach Sami to do the same. We're still getting to know Sami, but she seems to display the same personality as Bash: determined and independent."

Sebastian and Samantha will remain under the watchful eyes of the cystic fibrosis team, who will tailor their care and treatments as needed. In the meantime, Sebastian will continue to try to make Samantha laugh whatever chance he gets and follow her as she crawls around the house, trying to figure out what her four big brothers are up to.

"While diagnosing cystic fibrosis in not just one but two siblings is difficult, the opportunity to partner with the family and modify a treatment plan where both kids grow and thrive is rewarding," Dr. Sathe says. "Both Bash and Sami will qualify for highly effective modulator therapy in the next few years. This innovative therapy has been a game-changer for many patients with CF, and it will be exciting to watch how Bash and Sami respond to this therapy."

Learn more

The Claude Prestidge Cystic Fibrosis Center at Children's Health focuses on both pulmonology and gastroenterology to give children with CF the most thorough treatment possible. Learn more about our cystic fibrosis program and services.

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cystic fibrosis, pulmonology, patient story, breathing

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