Navigating apprehension following the identification of Angelman Syndrome

Sabrina Johnson found herself in uncharted waters when her son, Jude, was diagnosed with Angelman syndrome last year. The initial diagnosis was the single most stressful situation for families caring for someone with Angelman syndrome or Prader-Willi syndrome, according to a study conducted in 2016 involving 19 families in Western Australia.

Sabrina, who hadn't driven in about 15 years due to an irrational fear of driving, was faced with a new fear: that Jude's needs might be greater than expected. This fear prompted her to take driving lessons to ensure she could manage the increasing number of appointments for Jude.

In her quest for knowledge and support, Sabrina subscribed to an Angelman Syndrome newsletter and reached out to other families across Australia who had children living with the condition. She spoke with four other families, sharing experiences and emotions, and found comfort in their shared struggles.

Sabrina also sought expert advice. She visited the Angelman Syndrome Clinic at the Sydney Children's Hospital, Randwick, where she met a geneticist, pediatrician, sleep physician, and clinical nurse. The meetings left her reassured and hopeful.

To better understand and care for Jude, Sabrina raised her skills by learning how to recognize and respond to a seizure, as well as the current standards of care and best practices for those living with Angelman syndrome.

Sabrina's experiences with strangers whose lives were touched by Angelman syndrome and other disabilities encouraged her. She visited two local public schools that catered to students with a range of moderate to severe disabilities to see how Jude might be supported, included, and encouraged to be independent.

Despite the initial fear and uncertainty, Sabrina's courage was evident. She agonized over the question: Are we and Jude going to be OK? But with each step she took, she found hope and a sense of community.

Today, Sabrina drives almost every day of the week and almost always with her son. She visits the developmental pediatrician three months later, armed with knowledge and a network of support.

It's important to note that Angelman Syndrome News is a news and information website about the disease, but does not provide medical advice, diagnosis, or treatment. Always consult with a healthcare professional for medical advice.

In the face of the unknown, Sabrina's story serves as a beacon of hope and resilience for families navigating the challenges of caring for a child with Angelman syndrome. Her journey is a testament to the power of knowledge, community, and the indomitable spirit of a mother's love.