Perth babies with rare congenital abnormalities to benefit from new research project

Mia Cahill and Colton Eldridge are members of a very rare club. Both were born with gastroschisis, a rare congenital condition where a baby’s intestines and other organs develop outside of the body through a hole in the abdominal wall. And, while four-week-old Colton doesn’t know it yet, he and 23-year-old Ms Cahill are both also giving a voice to families like theirs whose babies are born fighting for life. Ms Cahill, a University of WA master’s of public health student, is helping lead research alongside Perth Children’s Hospital specialists to improve outcomes for babies who undergo major surgery, and their families. The “focused research priorities to improve outcomes and guide care” (FROG) program will see researchers partner with patients, families and healthcare workers to develop a top 10 list of research priorities for newborns requiring major surgery at birth or shortly after. Ms Cahill said the FROG project was born following a discussion with her colleagues about her challenging start to life. “It was divine intervention, it turned into this big serendipitous amalgamation that I had to choose my dissertation topic and it all feels right that this is where I’m meant to be,” she said. Ms Cahill’s parents, who lived in Ireland at the time, discovered their unborn child had gastroschisis at their 20-week scan. When their daughter was born she was immediately whisked away to be fitted with a silo, a plastic pouch which protects the protruding intestines. She underwent several surgeries and it would be a week before her mother, Niamh O’Connor, got to see her first-born for the first time, and 100 days before she got to take her baby home. Ms Cahill said meeting gastroschisis families and their newborns, including little Colton, in her role at PCH gave her a sense of what her own parents endured. “My parents fought endlessly for me to get to where I am today and while I’m fortunate to live a normal life now, many babies born with conditions requiring major surgery aren’t as lucky,” Ms Cahill said. “It’s quite special when I do interact with gastroschisis families, I’ve become more empathetic and more in awe of what (my parents) went through to get me here.” Wellard parents Hayley Carroll and Daimon Eldridge are navigating their own challenging journey after baby Colton was born with gastroschisis on February 12. The couple found out their son had the congenital abnormality at 12 weeks and were referred to King Edward Memorial Hospital for the remainder of the pregnancy. When Colton was born at 34 weeks, Ms Carroll was only allowed to hold him for 30 seconds before he was transferred to the neonatal intensive care unit at KEMH and fitted with a silo. Colton underwent surgery to repair the defect at eight days old and faces several more weeks in intensive care at PCH. “The medical team have been amazing, we have regular nurses so we always have a friendly face around us to answer our questions, and the surgeons, they have been great for Colton, and us,” Ms Carroll said. Dr Rebecca Thomas, a consultant neonatologist at PCH who is one of the project leaders, said because the cohort of babies with severe congenital abnormalities was rare, the area was under-researched. Each year about 280 surgeries are performed on 180 babies at the PCH neonatal unit, with severe congenital abnormalities accounting for about 85 patients. Dr Thomas said it was these families in particular, researchers wanted to hear from. “Traditionally this group of patients has not received the same amount of attention or research put into them as some of the other groups of patients that we have,” Dr Thomas said. “They have some very unique challenges, so we’re looking to find out what those challenges are and what we can look at to improve their experience and their outcomes.” Professor Britta Regli-von Ungern-Sternberg, chair of paediatric anaesthesia at UWA and PCH, said the list would ensure future studies focus on what matters most to those affected. “These babies have unique needs and challenges that deserve focused research attention, and we want to ensure their families’ voices continue to be heard and help shape future research directions,” Professor Regli-von Ungern-Sternberg said. PCH consultant surgeon Michael Collin said the project would ensure both doctors’ and parents’ goals were aligned when it came to research priorities. “The biggest factor we have with those families is trust, you build that trust by knowing you’re doing the right thing by that baby and that family,” Dr Collin said. “What this comes down to is using that trust to drag out some goals for us as clinicians to make sure we keep going forward with doing the right things for these babies . . . to drive gold standard care.” The project is seeking input from healthcare professionals caring for newborns requiring major surgery and families, including parents, siblings and extended family members, who have cared for these babies. Researchers also hope former patients who are now adults will take part. “The journey doesn’t end at Neonatal Intensive Care Unit (NICU) discharge,” Dr Thomas said. The initial survey is open until March 31, with results to be refined through community workshops later this year to establish the top 10 research priorities. For more information visit this link.