Only 180 people in the world share a rare genetic condition, and within that tiny number, four are members of Amber Selvey’s family. It’s a reality that has shaped her life, marked by profound loss and an unwavering determination to understand the invisible illness that stole her son and husband.
The condition, Alagille syndrome, attacks the body in insidious ways, beginning with the bile ducts vital for digesting fats. Without them, toxic acids build up, slowly damaging the liver and creating a cascade of deficiencies. But the damage doesn’t stop there; it extends to the heart, lungs, brain, and spinal cord, constricting vital blood vessels.
Amber’s son, Daniel, initially appeared healthy, but subtle breathing difficulties soon emerged. These concerns were initially dismissed as misfortune, a frustrating experience that prompted Amber to relentlessly advocate for genetic testing. The results confirmed her fears: Daniel had Alagille syndrome.
The diagnosis unlocked a hidden truth about Daniel’s father, Jason. A post-mortem examination revealed underdeveloped ventricles in his heart, a direct consequence of the syndrome. Doctors had previously assured Amber the condition primarily affected the kidneys, a misdirection that underscored the need for greater awareness.
Tragedy struck twice. Daniel suffered a cardiac arrest in 2021, but Amber, a trained paediatric nurse, managed to resuscitate him. Two years later, he succumbed to the same fate as his father, a devastating echo of loss that shattered her world.
“With child loss, it’s a very difficult one,” Amber reflects. “It’s not something our society readily acknowledges because it carries the terrifying possibility of happening to anyone. It defies the natural order; children should not outlive their parents.”
Driven by grief and a fierce desire to prevent others from experiencing the same pain, Amber returned to work as a paediatric nurse, finding strength in caring for other children. She also embarked on a counselling degree, seeking ways to support those navigating unimaginable loss.
Recognizing the isolating nature of grief, Amber founded a support group for parents and guardians in Whitstable. Meeting every third Wednesday, the group offers a vital connection, a space to share experiences and find motivation in the face of profound sorrow.
“People who’ve experienced loss often feel incredibly isolated,” Amber explains. “It can be hard to find a reason to get up each day, and we all need connections, a reason to carry on.”
Amber’s efforts extend beyond the local support group. She is now passionately campaigning for increased national attention to Alagille syndrome, hoping to improve diagnosis and care for the 180 individuals worldwide who live with this challenging condition – four of whom are deeply connected to her own story.
Her dedication, fueled by personal tragedy, is a testament to the enduring power of the human spirit and a beacon of hope for families grappling with the complexities of Alagille syndrome.
