Amber Selvey knows a grief most will never comprehend. She is part of an incredibly rare group – one of only 180 people worldwide living with Alagille syndrome, and a mother who has lost a child to its devastating effects. Her family carries a particularly heavy burden, with four members directly impacted by this little-known genetic condition.
Alagille syndrome attacks the body’s vital systems, beginning with the bile ducts responsible for digesting fats. Without functioning ducts, toxic acids build up, slowly poisoning the liver and creating dangerous vitamin deficiencies. But the damage doesn’t stop there; the syndrome also constricts blood vessels in the heart, lungs, brain, and spinal cord, creating a cascade of potential health crises.
Amber’s son, Daniel, was diagnosed after experiencing breathing difficulties at birth. His struggles prompted genetic testing, a path Amber relentlessly pursued after initial dismissals from medical professionals who attributed his symptoms to mere “bad luck.” The diagnosis revealed a heartbreaking truth – Daniel, like his father, Jason, carried the gene for Alagille syndrome.
Jason, a locksmith, only discovered his own condition following Daniel’s diagnosis. A post-mortem examination revealed underdeveloped ventricles in his heart, the chambers responsible for pumping life-sustaining blood. Amber was stunned, as she’d been repeatedly told the syndrome primarily affected the kidneys.
The pain of losing a child is almost unimaginable, but Amber endured the unthinkable – losing Daniel just two years after successfully resuscitating him from a cardiac arrest. His autopsy revealed another heartbreaking detail: a single valve in his heart instead of the usual three, a condition known as unicuspid.
Despite her profound loss, Amber found strength in her training as a paediatric nurse, returning to work after Jason’s death. She channeled her grief into action, recognizing a desperate need for support among other parents navigating similar tragedies.
Driven by this need, Amber established a support group in Whitstable, offering a lifeline to grieving parents and guardians. She understood the isolating nature of child loss, the struggle to find purpose and motivation in the face of unimaginable pain. “We all need connections,” she says, “We all need a reason to get up and carry on.”
The group meets regularly at a local café, providing a safe space for shared experiences and mutual understanding. Amber’s initiative, inspired by her studies in counselling, coaching, and mentoring, is a testament to her unwavering compassion and dedication.
Amber is now a passionate advocate for increased awareness of Alagille syndrome, determined to ensure that other families don’t face the same initial hurdles and dismissals she encountered. She believes that greater understanding of this rare condition is crucial for early diagnosis and improved care.
Her work extends beyond personal support, aiming to bring national attention to a syndrome that affects so few, yet carries such devastating consequences. For Amber, it’s a deeply personal mission, fueled by love, loss, and a fierce determination to make a difference.
