Sun emerges following boy's diagnosis of Angelman syndrome

In a heartfelt column titled "Here Comes the Sun," 33-year-old Sydney lawyer, Joelene Wand, shares her family's journey since receiving a diagnosis of Angelman syndrome for her 1.5-year-old son, Jude.

Joelene and her husband, Tom, have connected with families worldwide whose lives are touched by this rare neurogenetic disorder, present in approximately 1 in 12,000 people. Jude, an adventurous eater with a particular fondness for the pool, was diagnosed with Angelman syndrome at 16 months, on April 5.

The condition is caused by the absence or malfunction of the UBE3A gene on chromosome 15. In Jude's case, he's missing his mother's copy of the UBE3A gene.

Despite the challenges, Jude, with his bright smile and infectious laughter, is a testament to the resilience of those living with Angelman syndrome. His least enjoyable pastime, physiotherapy, is met with commendable determination and persistence.

Jude's days are filled with therapy sessions, including physiotherapy, occupational therapy, and speech therapy, all aimed at improving his quality of life and independence. Every person living with Angelman syndrome is unique, but characteristic features include intellectual disability, difficulty with balance and movement, and little to no speech.

The column aims to connect with and provide support and encouragement to caregivers worldwide dealing with Angelman syndrome. It's a reminder that if a loved one has recently received an Angelman diagnosis, they are not alone. Most important, they'll one day enjoy their bright smile again.

While there's currently no cure for Angelman syndrome, clinical trials are being conducted to restore the function of the UBE3A gene. The column serves as a beacon of hope for families affected by this condition, reminding them that they are not alone in their journey.

It's important to note that the column is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or qualified health provider with any questions regarding a medical condition.

Joelene, Tom, and Jude have found solace in connecting with other families whose lives are touched by Angelman syndrome and other rare diseases. Their journey serves as a testament to the power of community and the resilience of the human spirit.

As Jude becomes a "dragon" if dinner is not ready by 5:30 p.m., one thing is certain: he's a beacon of joy in their lives, always reminding them to find the sunshine in every situation.