Advice for parents new to an Angelman syndrome diagnosis
The wisdom that's helped in the year since my son Jude's diagnosis
It’s been a year since our son, Jude, was diagnosed with Angelman syndrome (deletion of the UBE3A gene) at 16 months old. The past year has been a roller coaster of appointments, endless research, and overwhelming emotions.
For the first few months after his diagnosis, I’d stay up late going down internet rabbit holes. I learned about the seizures, gastrointestinal and sleep issues, and swallowing difficulties that many people with Angelman syndrome experience.
On some days, I was anxious about socializing, afraid of talking to someone who was unaware of Jude’s diagnosis and would ask me how he was. Other days I needed time alone, exhausted from explaining the condition over and over again to friends, family, or strangers.
I’m grateful to have met dozens of people living with Angelman syndrome and their families over the past year. Following are a few pieces of wisdom that helped our family find strength when we needed it the most.
Plan for only the next 3-6 months
Receiving Jude’s diagnosis required us to confront significant and life-changing decisions. He is unlikely to ever live independently, so who will ensure he’s well looked after when my husband and I are gone? How will Jude’s current and future care requirements affect our financial situation? Is our home accessible, or will we have to move?
These issues are important, but they didn’t need to be resolved overnight. In fact, they’re still unresolved. Rather than looking decades ahead, I focused on what I needed to do in the short term, such as getting Jude’s medical team up to speed on his diagnosis and figuring out health insurance. We’re now thinking about home modifications because Jude is growing up.
Breaking down issues into short-term goals was much less overwhelming and easier to accomplish.
Assume competence
Raising a child with Angelman syndrome involves reading countless reports and opinions about their capacity, such as “Jude achieved below the 5th percentile of motor development for his age group” or “Jude’s cognitive skills are functioning within the extremely low range for his age group.” It’s heartbreaking, but these reports are necessary to ensure that Jude is able to access the support he requires.
I previously shared that a fellow parent’s ethos was to always assume their child was competent, as the world presents enough obstacles to people living with Angelman syndrome. They didn’t need to add to that by doubting their child’s potential.
I’m guilty of doubting Jude’s capabilities every now and again, but I know that he’ll learn with practice and time, and when he’s ready. Although Jude is nonverbal, I give him choices, model augmentative and alternative communication, and trust in his ability to learn, hopeful that he’ll tell us his thoughts in the future.
His name isn’t Angelman syndrome
The Wikipedia page on Angelman syndrome was one of the first sites I visited after receiving Jude’s diagnosis. Jude fit all of the hallmark characteristics perfectly, such as having a happy and easily excitable personality and a fascination with water.
Jude lives with Angelman syndrome, but Angelman syndrome doesn’t define him. He is joyful, determined, mischievous, and loving. He is not a diagnosis; he is a boy who recognizes the song we always play during bath time and loves handing out high-fives. He’s my child first, and that perspective keeps me grounded.
Now, a year on, the fear has lessened and the joy has multiplied. The advice I received carried me through, and I hope that if you’re reading this in the early days of your journey, it can offer you some comfort, too.
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.
About the Author
Nicholette Anand
Good article! My Angel is 24 now, and I have some perspective looking back to the days of early diagnosis. You make such an important point that you have to relegate long-term planning to the back burner and focus on the “now.” Otherwise, it all becomes overwhelming. Getting to know other Angelman families is always great as well. Another thing I learned was that the perfect solution (to school or whatever) at age 7 might be very different a few years later, and you just have to stay flexible.