Overcoming fear after an Angelman syndrome diagnosis

At 11:12 a.m. on Christmas Eve last year, I sent a text.

Our son, Jude, had just turned 1, and over the past four months we’d become increasingly worried that he wasn’t meeting his developmental milestones. He was a month away from being assessed for cerebral palsy (a common misdiagnosis for Angelman syndrome) and three months away from seeing a developmental pediatrician.

“Hello,” I typed. “I was wondering what your availability is like in January for driving lessons?”

I had a driver’s license but hadn’t sat in the driver’s seat for about 15 years. I had an irrational fear of driving, my deeply embarrassing fun fact that only those closest to me knew.

I decided to take action because my fear of driving had been surpassed by another: a sickening feeling that something wasn’t quite right with Jude. I was afraid that although I had a delightful and loving child, his needs were greater than I’d expected. An uneasy gut feeling told me that the number of appointments we were traveling to meet would continue to increase. I resolved to start from scratch, one driving lesson at a time, for the sake of my son.

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Fear of the unknown

The fear of the unknown has been described as a “fundamental fear” and “an individual’s propensity to experience fear caused by the perceived absence of information at any level of consciousness or point of processing.”

I was completely clueless when we received Jude’s diagnosis of Angelman syndrome. It took a while for the penny to drop, and I’ll never live down the fact that I asked his geneticist, “Sorry, can I just ask: Does this mean Jude won’t finish year 10?”

In an instant, our understanding of what our family life would be had changed. There’s no manual on raising a child, let alone a child with such exacting and lifelong needs. I agonized over one question: Are we and Jude going to be OK?

Knowledge is power

In 2016, 19 families in Western Australia who were caring for someone living with Angelman syndrome or Prader-Willi syndrome participated in a study on stress and coping. The results, published in the journal Disability and Rehabilitation, noted that “the initial diagnosis was the single most stressful situation.” Coping responses to the diagnosis included seeking social or instrumental support, reframing and adjusting goals, planning, and suppression.

I employed every one of these strategies, although I got more help by seeking instrumental support to learn more and talking to other families in a similar situation.

The study quoted two parents of children living with Angelman syndrome: “I guess once we got some knowledge, that became …  a bit of a weapon against the stress,” one parent said. “It was such a relief to be able to know the knowledge and the background of it, and that I think settles you a bit more,” said another.

I raised my 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. However, nothing left me more encouraged than the real-life experiences I had with strangers whose lives were touched by Angelman syndrome and other disabilities.

It’ll be OK

Meeting the experts at the Angelman Syndrome Clinic at the Sydney Children’s Hospital, Randwick — including a geneticist, pediatrician, sleep physician, and clinical nurse — left us reassured and hopeful.

We visited two local public schools that catered to students with a range of moderate to severe disabilities so we could see firsthand how Jude might be supported, included, and encouraged to be independent.

Finally, I spoke with four other families across Australia who had children living with Angelman syndrome. (I even met one in person.) Each of them understood every single emotion I was experiencing. They shared their own challenges, yet stressed to me that everything would be OK and that their children were happy.

I now drive almost every day of the week and almost always with my son. I’m still not the most confident driver and have made many mistakes. However, much like overcoming the fear of the unknown in caring for a child with Angelman syndrome, I know it will be OK.

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.