Here comes the sun after our son’s Angelman syndrome diagnosis

Nothing can prepare you for the beautiful and chaotic roller coaster of raising a child. For a brief moment, we felt as though the path we’d expected to follow went completely off course when we learned our one and only child would live a life of significant disadvantage.

My name is Joelene Wand, and I’m a 33-year-old lawyer from Sydney. My husband, Tom, and I have a charming 1.5-year-old boy named Jude, who was diagnosed with Angelman syndrome at 16 months, on April 5.

Angelman syndrome is a rare neurogenetic disorder present in approximately 1 in 12,000 people. It’s caused by the absence or malfunction of the UBE3A gene on chromosome 15. In Jude’s case, he’s missing my copy of the gene.

Every person living with Angelman syndrome is unique; however, characteristic features include frequent smiling and laughter, intellectual disability, difficulty with balance and movement, and little to no speech. There’s currently no cure, but brilliant minds worldwide are conducting clinical trials, hoping to restore the function of the UBE3A gene.

Those with Angelman work hard during therapy (such as physiotherapy, occupational therapy, and speech therapy) to improve their quality of life and independence.

(Graphic by Joelene Wand)

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A new chapter begins with Jude’s diagnosis

Before Jude’s diagnosis, my husband and I struggled to understand why he was delayed in meeting his milestones, such as sitting up or babbling. As a first-time parent lacking in self-confidence, I believed Jude was behind because I’d failed him. I doubted myself constantly and was convinced Jude would catch up if I tried harder.

Perhaps it’d be best if I worked less and instead invested my time in his therapy, I thought. How much more key-word signing and pointing could I do? If I did situps on the floor in front of him more often, he would do them, too, right?

A mixture of overwhelming feelings consumed us when we received Jude’s Angelman syndrome diagnosis. Our hearts ached to know that our boy would face challenges that even his parents could never truly comprehend. We grieved for the life we’d imagined that we’d have as a family here in Australia. We feared the diagnosis had cruelly taken Jude’s cheeky smile from us and that we’d never be able to enjoy it again.

This column is titled “Here Comes the Sun,” symbolizing the journey my husband and I (and Jude’s other caregivers, including his grandparents, aunts, uncles, and friends) have traveled since receiving his diagnosis. A new chapter of our lives started when we learned Jude had Angelman syndrome.

Tom’s dreams of coaching Jude’s cricket team and my hopes of spending hours playing board games with Jude may never eventuate, but I know now that our family life will still be wonderful, meaningful, and fulfilling. The goal posts moved once we understood why Jude was the way he was, and now we’re finally able to see him for all of his strengths, and not simply what makes him different from his peers.

Jude is a sweet boy who loves cuddles. His eyes light up as soon as he’s in the pool. He’s an adventurous eater, but he’ll turn into a dragon if dinner is not ready by 5:30 p.m. Physiotherapy is by far his least enjoyable pastime, but I’m so proud of his determination and persistence.

Since receiving Jude’s diagnosis, we’ve been fortunate to connect with families worldwide whose lives are touched by Angelman syndrome and other rare diseases. The long, cold, lonely winter is passing, and I’m nervous yet excited to commence my column. I hope to connect with and provide support and encouragement to caregivers worldwide with the same compassion and understanding that other families have generously afforded to us.

If your loved one has recently received an Angelman diagnosis, know that you’re not alone. Being a caregiver of a person living with this condition is challenging, but you’ve undoubtedly reached this point because of your tireless efforts to advocate for your loved one. Most important, you’ll one day enjoy their bright smile again. It’ll never beam brighter than when they’re with you.

Note: Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Angelman Syndrome News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Angelman syndrome.