Amber Selvey lost her husband Jason in 2017 and their son Daniel in 2023, six years apart, to Alagille Syndrome, a genetic disorder that can damage the liver, heart and other organs.
At a Glance
- Amber Selvey’s husband Jason died at 47; son Daniel died at 24, both from complications of Alagille Syndrome
- Three of Amber’s five children, including Daniel, tested positive for the same condition after family-wide genetic screening
- No family history was known before testing revealed Jason carried the gene
- Why it matters: Amber says wider awareness could speed diagnosis, link seemingly random symptoms and prevent fatal heart events
Amber told News Of Los Angeles there had been “no known family history of Alagille syndrome” until Jason’s death prompted testing. The Cleveland Clinic lists the condition as a multisystem disorder that often begins with subtle liver or heart abnormalities.
A Hidden Pattern Emerges
Jason, described by Amber as “fit and well,” had been born with a single undeveloped eye. The defect, treated as an isolated birth anomaly, is now recognised as a possible Alagille marker. During adulthood he faced repeated bouts of pneumonia and developed gout linked to declining liver function.
After Jason died, a post-mortem identified pulmonary artery hypoplasia and under-developed heart ventricles consistent with hypoplastic heart syndrome. The findings convinced Amber to seek genetic answers for their children.
Daniel’s first major symptoms appeared during infancy when breathing difficulties led doctors to diagnose aortic valve stenosis. In 2021 he suffered heart failure; Amber resuscitated him. Two years later he went to bed with a cough and cold and never woke up, dying days before turning 25.
Pushing for Genetic Answers
“When my third child was born and became the second of our children to be diagnosed with a cardiac condition, I was not satisfied with the explanation that it was simply unfortunate,” Amber told News Of Los Angeles. Working as a paediatric nurse and a mother, she requested whole-family genetic screening.
Results showed:
- Three children, including Daniel, carry Alagille Syndrome
- Two children tested negative
- Jason was confirmed as the gene carrier
- His late father likely had the same undocumented illness
Amber explained that even within one family the spectrum of severity is wide. Some members show only mild liver-enzyme abnormalities; others face life-threatening heart malformations.
The Challenge of Diagnosis
“Alagille syndrome can be very difficult to recognize because symptoms vary widely and often appear in isolation rather than as one clear condition,” Amber said. Liver problems caused by bile-duct abnormalities are common, yet they can masquerade as routine childhood issues such as prolonged jaundice, poor growth or easy bruising.
Heart complications may include:
- Pulmonary stenosis
- Heart murmurs
- Tetralogy of Fallot
- Aortic valve defects
Daniel’s autopsy revealed a unicuspid aortic valve, an exceptionally rare variation that had been misidentified as bicuspid.
Other overlooked features, Amber noted, are “distinctive facial features, ocular involvement, butterfly vertebrae, kidney disease or brain blood-vessel abnormalities.” Because symptoms fluctuate and can seem unrelated, she believes clinicians need “a joined-up, whole-person approach.”
A Gap in Adult Care
Amber told News Of Los Angeles that no standardised adult care pathway exists in the UK. Historically hepatologists have led follow-up, yet adults whose primary risk is cardiac may fall through the cracks.
“At present, there are no established medical guidelines for standardised adult Alagille syndrome care, which leads to wide variation in monitoring, treatment, and long-term planning,” she said.
Fragmented oversight contributed to Daniel’s repeated collapses and seizure-like episodes during 2021-22. Multiple investigations found no confirmed cause before his sudden death.
Turning Loss into Action
Amber is now completing a university degree with tuition support from The Evie Dove Foundation. She works with the Alagille Syndrome Alliance to fund research and support families. Locally she co-facilitates Together In Grief, a peer-led bereavement group run under the charities East Kent Mind and Revival for parents who have lost a child of any age.
“If sharing our story helps even one family receive an earlier diagnosis, better monitoring, or more joined-up care, then something meaningful can come from our loss,” she told News Of Los Angeles.
Amber urged both medical professionals and parents to “look deeper, ask questions, and listen carefully when concerns are raised,” especially when seemingly minor issues such as pale stools, dark urine or persistent itching cluster together.
Key Takeaways
- Alagille Syndrome can hide across generations when no family history is known
- Symptoms range from subtle liver-function changes to severe, sometimes fatal, heart defects
- Amber Selvey advocates routine genetic screening when multiple family members show cardiac or liver abnormalities
- She calls for national adult-care guidelines to replace the current fragmented system
