Father and son both die after what seemed like a cold... What is ‘Alagille syndrome’? [Health Talk]

[The Financial News] In the United Kingdom, a case has been reported of a father and son who showed mild cold symptoms such as a cough and then died in their sleep. Their cause of death was identified as the rare genetic disorder Alagille syndrome, highlighting the importance of early diagnosis.
According to the Daily Mirror and other foreign media, Amber Selby, a pediatric nurse living in Seasalter near Whitstable in Kent, recently shared how she lost both her husband and eldest son to the same condition. She is said to have gone public with her experience to raise awareness of Alagille syndrome and to support bereaved families.

Selby’s husband Jason, 47, had no underlying health problems and was generally healthy, but the day before he died he developed mild cold symptoms, went to bed, and never woke up. Shortly after getting up he showed signs of breathing difficulty, and his condition rapidly deteriorated until he passed away. "He looked perfectly fine from the outside," Selby recalled, adding, "I never imagined something like this could happen."
Her eldest son Daniel, 24, suffered a cardiac arrest at home in 2021 but survived thanks to his mother’s emergency first aid. Despite regular follow-up afterwards, he died in his sleep two years later, in 2023.
Both father and son were found to have died from Alagille syndrome. This rare genetic disorder affects multiple organs, including the liver, heart, and blood vessels. Because its symptoms vary widely and are often mild, it is known to be difficult to diagnose early.
According to Selby, Jason was not diagnosed with the condition until after their eldest son was born. Congenital heart abnormalities were discovered in Daniel, and similar symptoms appeared in another child, but doctors initially treated each case as an isolated issue. "No one ever told us the problems might be connected," she said. "Instead, they kept saying I was worrying too much."
After Selby repeatedly requested further testing, genetic analysis confirmed that Alagille syndrome was present in the family. The disorder is known to be characterized mainly by liver disease caused by bile duct narrowing and by congenital heart defects.

While Jason had been told during his lifetime that only his liver was mildly affected, a post-mortem examination revealed that heart failure caused by underdevelopment of a ventricle was the actual cause of death. In Daniel’s case, an autopsy showed that he had a unicuspid valve, contrary to the earlier diagnosis of a bicuspid valve. He was reported to have led an active, healthy life up until shortly before his death.
Selby said she was deeply shocked to learn that, at the time her children were diagnosed, there were only about 180 registered patients with Alagille syndrome in the United Kingdom, and four of them were members of her own family.
Selby is now working with a U.S.-based Alagille syndrome organization to support research and promote awareness. She also runs a bereavement support group for parents who have lost children, with a particular focus on fathers and other male family members. She stressed the need for a space where people of any gender can share the pain of loss.
Alagille syndrome is an autosomal dominant genetic disorder caused by gene mutations. Even within the same family, the severity of symptoms and the organs affected can differ greatly. Globally, it is estimated to occur in roughly 1 out of every 30,000 to 100,000 people, and in South Korea it is classified as an ultra-rare disease, with about 136 registered patients as of 2021.
Major symptoms include jaundice, itching, and growth retardation due to abnormal bile duct formation. Some patients progress to cirrhosis or liver failure and may eventually require a liver transplant.
There is currently no fundamental cure, and treatment focuses mainly on managing symptoms. Medical experts advise that early diagnosis and multidisciplinary long-term follow-up are crucial for better outcomes. They add that when there is a family history or repeated unexplained organ abnormalities, the possibility of a genetic disorder should be carefully considered.
hsg@fnnews.com Han Seung-gon Reporter