Nurse's Double Tragedy: Husband and Son Die from Rare Alagille Syndrome
In a devastating sequence of events, nurse and mother-of-five Amber Selvey has endured the unimaginable loss of both her husband and her son to the same extremely rare genetic disorder. What began as a common cold for her husband Jason in 2017 escalated into a fatal heart condition, with her son Daniel succumbing to the same invisible killer just six years later.
A Family's Heartbreaking Loss
Amber Selvey described the initial loss of her husband Jason, aged 47, as a massive shock. Jason, a fit and healthy locksmith, went to bed with what seemed like a minor cough and cold but tragically passed away quickly after waking up with breathing difficulties. When my husband passed away, it was a massive shock – really unexpected, Amber recalled. When you essentially have somebody who's fit and well and not experiencing any problems, it's not what you expect in life.
Despite her grief, Amber found strength in caring for their five children and continuing her work as a children's nurse. However, tragedy struck again when her son Daniel, just days before his 25th birthday, died in his sleep in 2023 after suffering sudden heart failure. Daniel had collapsed at home in 2021, with Amber managing to resuscitate him, but his health deteriorated with chest pains and seizures during the pandemic.
The Hidden Danger: Alagille Syndrome
Following Daniel's cardiac arrest, Amber pushed for genetic testing, which revealed that both Jason and Daniel had Alagille Syndrome, a rare multi-organ condition that often goes undiagnosed. Primary symptoms include cardiac issues and narrow bile ducts leading to liver problems. Amber explained, It's a multi-organ condition. It can be quite mild liver involvement, jaundice, to needing a liver transplant. The other main issue is cardiac.
Shockingly, Amber discovered that only about 180 people in the UK have Alagille Syndrome, with four of them in her own family. Jason was initially told the disorder only mildly affected his liver, but his post-mortem revealed underdeveloped ventricles and cardiac failure. Daniel, known to have a heart defect thought to be a bicuspid valve, was found to have a unicuspid valve with only one valve instead of three.
Living with Fear and Raising Awareness
Amber now lives with the constant dread that her other children could face the same fate. It was always in the back of my mind that once it had happened once it could happen again, she said. But you still don't expect to lose a child before you. It is not the natural order of the world. Children should outlive their parents.
Her children have required operations to widen arteries and seal heart gaps, but they are generally thriving. Signs of Alagille Syndrome in children can vary widely, including:
- Brittle bones and bone growth problems
- Vitamin deficiencies
- Difficulty hearing
- Distinct facial features like a wide brow and narrow chin
Determined to turn her pain into purpose, Amber is campaigning for greater understanding of Alagille Syndrome. She has become involved with the Alagille society in America and set up a bereavement support group in Whitstable to help other parents navigate child loss. 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, she emphasized.
A Legacy of Compassion
Howard Dove, trustee at The Evie Dove Foundation, praised Amber's efforts, stating, Amber's compassion and expertise have a profound impact on children and their families. By funding specialist training for talented paediatric healthcare professionals, like Amber, we can spread Evie's sparkle and help keep compassion at the heart of paediatric care.
Amber's story highlights the critical need for increased awareness and diagnosis of rare genetic conditions, offering a beacon of hope and support for others facing similar challenges.
