Amber Selvey’s husband and son had a condition which only affects around one in 70,000 newborns
Amber Selvey with her son Daniel(Image: )
A heartbroken mum lost both her husband and her son to the same rare, one-in-70,000 liver condition – just a few years apart. Amber Selvey, 51, is campaigning for more awareness about Alagille Syndrome following the deaths of Jason, 47, and Daniel, 24, within six years.
The rare genetic condition is caused by mutations in the Jagged1 gene, which leads to the development of fewer bile ducts affecting the liver and heart among other organs. Symptoms can include jaundice, heart murmurs, and distinctive facial features such as a slightly triangular structure.
The mum-of-five from Whitstable, Kent, says her husband had always been very athletic and healthy, and was only diagnosed after their first two children were born with heart issues. Amber says she had to push for genetic testing to be done, as doctors told her that it was just a coincidence her children had cardiac problems.
Blood tests later revealed that both her sons had Alagille Syndrome and that it had been passed down from Jason. The condition affects around one in 70,000 newborns, according to John Hopkins Medicine.
She said: “When my second son was born with cardiac problems I thought ‘once is bad luck, twice there is more probably going on.’ They told me that I was a bit paranoid and it was probably just bad luck. In the end I did push for genetic testing.
“It was shocking but because I had done my own research it wasn’t a complete shock, I had my suspicions. Diagnosis in some ways is helpful because at least you know what you are dealing with. The unknown is always harder to deal with.”
In 2017 Jason, who was an auto locksmith, began experiencing some mild cold symptoms and went into cardiac failure in the night, passing away suddenly. Six years later, his son Daniel, who worked with him, suffered an identical death, experiencing a cough and then having cardiac failure in his sleep.
Amber, who is a children’s nurse, says their deaths felt completely out of the blue, and have had a heartbreaking impact on her family. She said: “Obviously my husband wasn’t aware that he had any cardiac issues. He had just been suffering symptoms of a cough and cold, nothing that seemed too severe.
“He went to bed as normal and the next morning he was convulsing and not breathing properly. He was essentially fit and well, a working man with a normal life. It was quite out of the blue and certainly not expected.
“When you have got young children it is a complete shock. I was lucky that I had a lot of friends and family for support. Having children made me get up and carry on with life.
“I tend to try and be quite a positive person. Obviously, you are always going to have the days where you don’t want to get up and carry on but you do because you have to. Grief is always there, but you have got to learn to build a life around it.”
Amber has two more children who were born with the genetic disorder, and have varying symptoms- mostly related to their hearts. At the time they were diagnosed there were only 180 people in the UK with the condition – four of which were in her own family.
Her kids have needed surgery to stretch their arteries and close the holes in their hearts, but she says that mostly they are doing well and living normal lives. However, the mum still lives in constant fear that her children might relive the same fate as Jason and Daniel.
She added: “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. It is not the natural order of the world. Children should outlive their parents.”
Now, Amber is pushing for more awareness around the condition to help others, joining the Alagille society in America and running a bereavement group for parents. She said: “Like all syndromes it can be quite mild for some people and quite severe for others. It doesn’t make it easy to diagnose. You may just have one symptom.
“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.”
