Peighton’s Journey with Alagille Syndrome

“A Supportive Medical Team Makes All the Difference, and we know this first hand,” Peighton’s parents.

“When Peighton was born, genetic testing revealed a microdeletion in Peighton’s JAG1 gene. She was diagnosed with Alagille Syndrome at six weeks old. The rare genetic condition impacts the liver, heart, kidneys, skeletal system, growth, and induces an uncontrollable itch.

Since her diagnosis, Peighton has been receiving medical care from an exceptional multidisciplinary team consisting of gastroenterologists, transplant teams, cardiologists, nephrologists, neurologists, dieticians, medical imaging specialists, and outpatients. She undergoes numerous tests and check-ins regularly, including blood tests, ultrasounds, x-rays, ECHOs, ECGs, MRI scans, CT scans, liver biopsies, and general support for her daily life.

Despite the numerous medical appointments, tests, and check-ins, Peighton feels welcomed, comfortable, and confident in the care provided by The Royal Children’s Hospital team. Throughout this journey, their exceptional services and support have not only helped our family navigate the medical hurdles, but also provided valuable parent education. We are grateful for their guidance and care.

Peighton will require continual medical appointments at RCH, we are confident in her medical team and care we receive. No matter the uncertainty of her condition, we are met with a team of knowledge, experience and compassion.