The Global Science Summit by FAST underscores the potency of optimism in science
In the heart of Florida, a family's world was turned upside down when their 16-month-old son, Jude, was diagnosed with Angelman syndrome. This rare neurogenetic disorder, without a cure, brought a wave of uncertainty and fear. But hope remains a constant force in their daily progress.
The writer's hope for Jude is not just about ensuring he feels happy, safe, and loved. It extends to helping him build motor skills that will allow him to play golf with his dad and help prepare dinner. The writer sees these actions as steps towards future independence, a dream that initially seemed unattainable upon learning that Jude would require constant lifelong care and would never live independently.
The family's journey intertwines with the global efforts to combat Angelman syndrome. Organisations like the Foundation for Angelman Syndrome Therapeutics (FAST) are at the forefront of these efforts. FAST is a patient advocacy organisation dedicated to curing Angelman syndrome. They fund scientific research, create projects that support drug development, and educate the community about clinical trials.
One such breakthrough could be GTX-102, a potential treatment that may help improve cognition in children and teens with Angelman syndrome. John Marshall, PhD, a professor of medical science at Brown University in Rhode Island, spoke about the scientific community being on the cusp of major breakthroughs in understanding Angelman syndrome.
The FAST community gathers at various events worldwide. The Global Science Summit, the largest science and drug development event devoted to Angelman syndrome, is where researchers, clinicians, and pharmaceutical companies present their findings. The FAST's 18th Global Science Summit is scheduled for November 7-8 in Orlando, while the FAST Australia's 2nd Congress is set for September 19-20 in Sydney. FAST Italy's 1st Science Summit will take place on February 14-15 in Milan.
A parent at a FAST summit shared a philosophy of assuming their child with Angelman syndrome is competent. This philosophy resonates with the writer, who helps Jude practice standing and eating from a spork, viewing these actions as steps towards his independence.
The writer dreams of one day hearing Jude use his communication device to share his thoughts or tell them he's had enough of people singing "Hey Jude." But hope is not just about dreams for the future. It is an active, present force in their daily progress with Jude.
For families interested in research or clinical trials related to Angelman syndrome, the talks from the November summit can be watched online. Attending a FAST-affiliated Science Summit in 2025 is another opportunity to learn more and contribute to the ongoing fight against this disorder.
Through it all, hope remains a beacon of light in the journey with Angelman syndrome. It is a testament to the resilience of the human spirit and a reminder that with every step forward, we move closer to a brighter future for children like Jude.
