Blair Snelgar, a three-year-old with Angelman syndrome, unexpectedly passed away in her sleep on April 29, 2023. Her family was deeply shocked by her death as the condition is not typically life-threatening.
Continuing to grieve their loss, Blair's family decided to donate her brain to an American research facility to understand Angelman syndrome further. Blair would have turned four this year. Instead, her family prepared to commemorate the memory of their joyful daughter.
Emma Snelgar, Blair's mother, shared that Blair passed away at their Sunshine Coast home due to complications arising from Angelman Syndrome, a rare genetic disorder. "It was just an ordinary night; I put Blair to sleep, as we usually do," Ms Snelgar said.
"There were no warning signs; it just happened in her sleep," she added. "We still don't actually have a formal cause of death at the moment, and I think it's going to take some time," Ms Snelgar said at the time. "But we suspect that she had a seizure."
A Family's Journey With Angelman Syndrome
Blair had only experienced four mild seizures by the age of three, for which she was receiving medication. "Even though our children with Angelman Syndrome are even more vulnerable, you still just never think that it could happen to you," Ms Snelgar said.
"It's really only now that I can reflect more on just how vulnerable and high-risk their existence is," she noted. After Blair's death, Emma and Ryan Snelgar, Blair's parents, were committed to preventing other Angelman families from enduring their profound sorrow.
The couple committed to donating Blair's brain to contribute to international research initiatives. "It was no easy feat doing that because, in Australia, there are no ethics protocols in place to allow that for a minor," Ms Snelgar said.
"So FAST (Foundation for Angelman Syndrome Therapeutics) and the Angelman Association in Australia worked really hard on our behalf to create a pathway for this to happen by sending it to America," she explained.
Neuroscience researchers at UC Davis in California are dedicated to enhancing understanding and developing treatments for brain disorders. "It is a top research facility there, and we can't wait to find out what her beautiful brain can tell us about Angelman Syndrome," Ms Snelgar said.
"And not just Angelman Syndrome, this could potentially open doorways for other rare diseases." A spokesperson from UC Davis Health expressed gratitude for the generous donation of Blair's brain.
"One donation can lead to dozens, sometimes hundreds, of studies," the spokesperson said. "All aimed at advancing knowledge and treatment of neurodevelopmental conditions like autism, fragile X syndrome, and Angelman Syndrome.
"UC Davis Health and the UC Davis MIND Institute are tremendously grateful to all families who make the selfless choice to donate the brain of a loved one to science."
Angelman Syndrome, first described by British paediatrician Harry Angelman in 1965, is characterised by global developmental delays, impaired movement and balance, absence of speech, seizures, and feeding and sleep disturbances.
People with Angelman Syndrome are often called "angels," Ms Snelgar said. She described their child as a "little pioneer" for others with the syndrome. "We just knew that it would be for the greater good; we didn't want her death to be in vain," she said.
"We just felt like there was so much more that Blair had to offer the world." Celebrity involvement has also brought attention to the challenges individuals with Angelman Syndrome face. Actor Colin Farrell recently established a foundation in honour of his son, who lives with the condition.
A Father's Mission
Actor Colin Farrell's home is a world away from the glamorous life often associated with Hollywood. The actor's hillside residence in Los Angeles is filled with the energy and joy of family life. At its heart is his son, James, a 20-year-old with Angelman syndrome. Despite the challenges posed by the rare neurogenetic disorder, James exudes an infectious and inspiring spirit.
The bond between Colin Farrell and his son, James, is a testament to the enduring power of parental love. James' infectious joy brings a unique light to Farrell's life, and the actor is determined to ensure that others see his son in the same positive light.
However, Farrell's heart aches as James approaches a significant milestone. The actor's concerns about his son's future serve as the catalyst for a new chapter in his life. As James approaches his 21st birthday, Farrell confronts the stark reality that many support systems for individuals with special needs disappear, leaving young adults like his son without adequate support.
"Once your child turns 21, they're kind of on their own," Farrell says. "All the safeguards that are put in place, special ed classes, that all goes away, so you're left with a young adult who should be an integrated part of our modern society and more often than not is left behind."
A New Chapter of Advocacy
To bridge the gap in support for adults with intellectual disabilities, Farrell is establishing the Colin Farrell Foundation. The organisation will focus on advocacy, education, and innovative programs to improve these individuals' lives.
"This is the first time I've spoken about it, and obviously, the only reason I'm speaking is I can't ask James if he wants to do this," he says. "I mean, I can. I speak to James as if he's 20 and has perfect fluency with the English language and age-appropriate cognitive ability.
"But I can't discern a particular answer from him as to whether he's comfortable with all this or not, so I have to make a call based on knowing James's spirit and what kind of young man he is and the goodness that he has in his heart."
Farrell has long desired to create a support system for families raising children with special needs. His foundation aims to provide comprehensive assistance, addressing the multifaceted challenges faced by these families.
He believes that if James could understand the impact of his father's efforts, he would wholeheartedly support the foundation. Driven by a deep love for his son, Farrell is determined to create a lasting legacy for James and countless others affected by intellectual disabilities.
The actor's journey is a testament to a parent's unwavering love and dedication. His foundation, inspired by his son James, joins efforts like Ms Snelgar's Blair's donation to highlight the needs of individuals with Angelman Syndrome.
Pediatric health is marked by a complex tapestry of conditions, ranging from the extremely rare to the more prevalent. On one end of the spectrum, conditions like Moebius Syndrome, which can severely limit facial expression, highlight the extraordinary challenges faced by some children.
On the other, ADHD, a more commonly diagnosed neurodevelopmental disorder, affects millions and underscores the importance of ongoing research and support. Advances in technology, such as the potential of AI in ADHD diagnosis, offer promising avenues for addressing these challenges and improving the lives of children everywhere.
