A mother from Kent has endured the unimaginable grief of losing both her husband and her son to the same incredibly rare genetic disorder, a condition that affects only about one in every 70,000 people.
A Family's Tragic Loss
Amber Selvey, a 51-year-old children's nurse from Whitstable, is now channelling her heartbreak into a campaign for greater awareness after the deaths of her husband, Jason, and their son, Daniel. Jason was 47 when he died in 2017, and their son Daniel tragically passed away at just 24 years old in 2023, both from complications linked to Alagille Syndrome.
The uncommon genetic disorder is caused by mutations in a specific gene and leads to a reduction in bile ducts, primarily affecting the liver and heart. It can also cause distinctive facial features and issues with other vital organs. Common signs include jaundice, heart murmurs, and a characteristically broad forehead.
The Fight for a Diagnosis
Amber's journey to understanding the condition that would claim two of her loved ones was fraught with difficulty. Her husband, Jason, an auto locksmith who was sporty and seemingly fit, was only diagnosed after their first two children were born with significant heart complications.
"When my second son was born with cardiac problems I thought 'once is bad luck, twice there is more probably going on'," Amber explained. "Medical professionals initially told me I was being paranoid and that it was likely just coincidence." She persevered and pushed for genetic testing, which ultimately confirmed that both her sons had inherited Alagille Syndrome from their father.
At the time of their diagnosis, fewer than 180 people in the UK were known to have the condition. Astonishingly, four of them were in Amber's own family. Her two other children with the syndrome have undergone major heart operations but are currently living relatively normal lives.
Sudden and Devastating Outcomes
The true devastation of the condition struck without warning. In 2017, Jason developed mild, cold-like symptoms before suffering a fatal cardiac arrest in his sleep. In a cruel twist of fate, six years later, his son Daniel—who had been working alongside him—died in exactly the same way.
"Obviously my husband wasn't aware that he had any cardiac issues," Amber said. "He had just been suffering symptoms of a cough and cold, nothing that seemed too severe... It was quite out of the blue and certainly not expected."
The loss of her son was particularly shattering. "It was always in the back of my mind that once it had happened once it could happen again, but you still don't expect to lose a child before you," she shared. "It is not the natural order of the world. Children should outlive their parents."
Building a Life Around Grief and Raising Awareness
As a mother of five, Amber says her other children gave her the strength to carry on. "Grief is always there, but you have got to learn to build a life around it," she stated, describing herself as a positive person who faces each day for her family.
Now, she is determined to prevent other families from experiencing similar tragedy through ignorance. Amber has joined the Alagille society in America and helps run a bereavement support group. She emphasises that the syndrome presents a wide spectrum of severity, making it hard to diagnose, and believes many more people may be living with it undetected.
"I do think awareness is important because there are probably a lot more people out there that do have the syndrome and aren't aware," Amber urged. Her campaign highlights the critical need for better recognition of rare genetic conditions and the importance of listening to parental concerns in the medical system.
