FAST’s Global Science Summit reminded us of the power of hope

The beginning of a new year is a hopeful and optimistic time. It’s symbolic of a fresh start, providing an opportunity to reflect on the past and embrace the future.

Hope can be challenging to let in when caring for a person with Angelman syndrome, a rare neurogenetic disorder without a cure. After our son, Jude, was diagnosed with Angelman syndrome (deletion of the UBE3A gene) last April at 16 months old, the hopes we had for him and our family vanished. When we learned Jude would never live independently and would require constant lifelong care, prior expectations of family road trips or seeing Jude graduate from the university where my husband, Tom, and I met felt distant and irrelevant.

Since attending the Foundation for Angelman Syndrome Therapeutics’ (FAST) 17th Annual Global Science Summit and Gala on Nov. 8-9 in Orlando, Florida, I’ve learned that hope gives us purpose, but it doesn’t always look the way we expect. Instead, it can be found in moments that show us we’re moving forward, even when progress isn’t obvious.

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What is FAST and the summit?

FAST is a patient advocacy organization focused on curing Angelman syndrome. It funds scientific research, creates projects that support drug development (such as the Global Angelman Syndrome Registry), and educates the community about clinical trials.

The Global Science Summit is the largest science and drug development event devoted to Angelman syndrome. Researchers, clinicians, and pharmaceutical companies present their findings and engage with families. Over one incredible weekend, families from all over the world connect and unite with the shared hope of creating a brighter future for our children.

Families and friends unite at the 2024 FAST Gala. Back row, from left: Joelene Wand, Tom Wand, Lisa Ekrem, Michelle Chong, Vivian Tam, Jesse Edberg, and Meghan Edberg; front row, from left: Stephanie Ho and Meagan Cross. (Photo by Reese Moore Photography, courtesy of FAST)

At the summit, I had the privilege of hearing scientists and clinicians explain how they were working to understand the complexities of Angelman syndrome and develop treatments that could one day improve quality of life for our loved ones.

I felt immense gratitude, especially upon hearing their messages of hope and encouragement to the community. John Marshall, PhD, a professor of medical science at Brown University in Rhode Island who conducts research related to Angelman syndrome, spoke about no longer needing to hope or dream, as the scientific community is on the cusp of major breakthroughs.

As the parent of a newly diagnosed child, I’m grateful for the efforts and generosity of caregivers and donors who have paved the way for progress in our understanding of Angelman syndrome. I highly encourage any families interested in research or clinical trials to watch the talks from the November summit online, or attend a FAST-affiliated Science Summit, three of which have been confirmed for 2025:

• FAST Italy’s 1st Science Summit on Feb. 14-15 in Milan
• FAST Australia’s 2nd Congress on Sept. 19-20 in Sydney
• FAST’s 18th Global Science Summit on Nov. 7-8 in Orlando.

The contagious power of hope

Before attending the summit, I was afraid of feeling disappointed or naive. Providers at our Angelman clinic told us we could expect a treatment to become available in Jude’s lifetime, which would improve his quality of life, and we believed them. I cried when I heard a patient said “mama” for the first time while participating in an Ionis clinical trial, but I avoided getting my hopes up that the same would happen for Jude one day.

Instead, I focused on getting through each day — driving Jude to therapy, carrying him because he isn’t yet mobile, and ensuring he’s well cared for. I assumed this would be my life forever.

In my last column, I mentioned that I’d been asked what our hopes and dreams were for Jude. The question was posed to attendees at the FAST summit, and my answer was simple: that Jude would always feel happy, safe, and loved.

I met a fellow parent at the summit whose approach made a lasting impression on me. His philosophy was to always assume his child was competent. He explained that the world presented enough obstacles to people living with Angelman syndrome, and he didn’t need to add to that by doubting his child’s potential.

I still hope Jude always feels happy, safe, and loved, but I also have great hopes for his future. Jude’s playful and warmhearted nature fills me with confidence about his desire to learn, explore, and build a deeper connection with his community.

Hope gives us purpose. As I help Jude practice standing or eating from a spork, I dream of the day he has the motor skills to play golf with his dad or help me prepare dinner. Tom and I are also committed to modeling to Jude how to use his communication device, hoping to one day hear him share his thoughts or perhaps even tell us that he’s had enough of people singing “Hey Jude.”

Hope isn’t a distant goal — it’s alive and present in our everyday progress. And that’s what keeps us moving forward.

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.