QLD girl’s donated brain helping research into Angelman syndrome
A Queensland family is helping pioneer research into a rare genetic condition that claimed the life of their young daughter. Blair Snelgar died of complications from Angelman syndrome. Her brain is now at a research facility in the US, in the hope it can lead to medical breakthroughs in treatment.
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00:00 Emma and Ryan Snellgar treasure their memories of daughter Blair.
00:06 She did this funny little scrunch nose face we called it.
00:10 The smiley, happy three-year-old died on Queensland's Sunshine Coast last April from a likely seizure.
00:17 Very sudden, very unexpected.
00:19 You know, she went to bed perfectly healthy the night before and didn't wake up.
00:23 Blair was diagnosed with Angelman's Syndrome as a baby, a rare genetic condition affecting one in 15,000 births.
00:31 It causes feeding and sleep issues, developmental delays and seizures.
00:36 It came as a complete shock to us when Blair passed away.
00:40 All of the literature and resources out there about Angelman's Syndrome say that it's not life limiting.
00:48 The Snellgars made the decision to donate Blair's brain to neuroscientists at UC Davis in California.
00:55 We really can't wait to find out what her brain can tell us about Angelman's Syndrome and just to find out more and to help other families.
01:06 Emma has joined the foundation of Angelman's Syndrome Therapeutics.
01:10 It's building the first global registry of patients and has funded new clinical nurse coordinators.
01:17 In three different clinics, Melbourne, Sydney and Brisbane, with the eventual goal to make sure that we can reach every child in Australia, every child and adult.
01:25 Buildings across the globe, including here at City Hall on the Sunshine Coast, will light up in blue today in recognition of International Angelman Day,
01:36 an early birthday gift for Blair, who would have turned four this Saturday.
01:41 If we can continue to raise awareness and give a voice to it so that she is never forgotten, that's really important to us.
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