A North Wales mother has shared the emotional journey of her daughter who was born with rare “fairy” features and devastating genetic disorders. Jayne Hughes, originally from New Brighton, now residing in North Wales, gave birth to Amy at just 28 weeks in 1991. Despite initial dismissal from medical professionals, Jayne’s intuition about her daughter’s rare genetic condition proved to be accurate.
Jayne noticed that Amy, who was not developing like other children, was consistently told not to worry by doctors. Amy, who was tiny and did not gain weight or grow at a typical rate, was repeatedly taken back to the GP, with the explanation given that her slow development was due to her premature birth.
By the age of one, Amy displayed distinct facial features, described as “pixy-looking”, with a pointy chin, different from other children. These unique characteristics were attributed to her rare genetic disorders, which eventually were identified as a combination of two DNA repair disorders, including Cockayne syndrome. This syndrome is known for causing abnormal head size, stunted growth, and progressive symptoms.
Amy faced numerous life-threatening challenges, including a brain tumour that required surgery and later developed thyroid cancer. Jayne recalled the devastating impact Cockayne syndrome had on Amy’s life, as she struggled with feeding tubes and a weakening body over time.
Despite the immense challenges, Amy lived a meaningful life, even founding the charity ‘Amy and Friends’ in 2007 to raise awareness about rare conditions. Remarkably, Amy lived until the age of 28, passing away on New Year’s Day in 2020. A significant highlight in her life was meeting Nick Jaminet, who shared her condition, and having a wedding blessing in 2010.
Jayne fondly remembered Amy’s positivity and sense of humour, emphasizing how she always found joy in life despite her difficulties. The ‘Amy and Friends’ charity continues to support families facing rare illnesses, offering a lifeline to those in need of assistance and connection.
Amy’s legacy lives on through the charity’s impactful work, providing support and resources to families worldwide. Jayne’s other children, Jonathan, Ben, and Laura, have followed in their mother’s footsteps, dedicating themselves to the medical field to help others.
The charity’s upcoming annual meeting, set to bring together individuals with rare diseases and experts, highlights the ongoing commitment to supporting those facing similar challenges. Through the enduring work of ‘Amy and Friends’, Amy’s memory and impact endure, offering hope and assistance to families in need.