Brain of little ‘angel’ donated for research after 3yo dies from rare Angelman Syndrome
Blair Snelgar would have celebrated her fourth birthday this weekend.
Instead, her family is preparing to honour the memory of their happy little girl with the infectious laugh.
Her mum Emma Snelgar said the three-year-old died at their Sunshine Coast home on April 29 last year of complications from the rare genetic disorder, Angelman Syndrome.
“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,” Ms Snelgar said.
Ms Snelgar said Blair’s death came as a huge shock because Angelman Syndrome is not considered to be a life-limiting condition.
“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.
“But we suspect that she had a seizure.”
Ms Snelgar said Blair was diagnosed with the chromosomal deletion syndrome when she was eight months old.
Seizures are a common symptom of the condition.
By the age of three Blair had experienced only four mild seizures, which she was taking medication for.
“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.”
‘Little pioneer’ helping others
Emma and her husband, Ryan Snelgar, are determined to stop other Angelman families from experiencing the heart-wrenching grief that they have.
After Blair’s death, they made a big decision to donate her brain to international research efforts.
“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 Therapeautics) 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.”
Neuroscience researchers from UC Davis in California are working to better understand and treat disorders that impact the brain.
“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 UC Davis Health spokesperson told the ABC brain donation was a generous gift.
“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 is named after British paediatrician Harry Angelman who first investigated the symptoms in 1965. Symptoms include global developmental delay, impaired movement and balance, lack of speech, seizures, and feeding and sleep difficulties.
Ms Snelgar said people with Angelman Syndrome were often referred to as “angels”.
She said her angel Blair was a “little pioneer” for others.
“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.”
Difficult to diagnose
Ms Snelgar said it was not easy to get a diagnosis for Blair as a baby.
“We had been noticing a lot of differences and concerns about Blair in the way that she wasn’t reaching her milestones, she had a lot of feeding issues,” she said.
“So, it took quite a while to get to the point of diagnosis because the differences that we noticed were quite subtle.”
After spending a week at the Queensland Children’s Hospital and undergoing many tests, a paediatrician suggested Blair undergo another genetic test for Angelman Syndrome.
“I had never heard of Angelman Syndrome,” Ms Snelgar said.
“I googled it and I was just reading through the characteristics of it online, and just in my brain I went tick, tick, tick.”
Buildings light up for Blair
Today marks International Angelman Day, raising awareness of the neuro-genetic disorder that affects approximately 1 in 15,000 babies.
“It’s on that date because it’s the 15th chromosome affected and February is rare disease month,” Ms Snelgar said.
Tonight, Sunshine Coast Council’s City Hall will turn blue in honour of Blair and other Angelman Syndrome children.
“So we’re lighting up a number of landmarks on the Sunshine Coast and globally in blue — blue is the Angelman colour,” Ms Snelgar said.
“So it’s really a day to bring Angelman communities together to raise awareness and recognise people with Angelman Syndrome who have passed.”
Ms Snelgar said Blair’s birthday fell two days after the international event.
“So Blair’s birthday is on the 17th of February,” she said.
“I’ve always thought it’s a bit uncanny that her birthday was so closely related to Angelman Syndrome.”
Through pain comes purpose
Since losing Blair, Ms Snelgar has channelled her energy into supporting the Foundation for Angelman Syndrome Therapeautics, recently joining the board.
“I just feel connected to Blair when I’m doing this; I’m doing something meaningful and with purpose,” she said.
The Australian-based foundation, which is run by parents of children with the condition, has raised more than $1.5 million in the past decade for research and support.
Founding member Meagan Cross said some of that money had gone towards the establishment of a Global Angelman Registry — a database of people diagnosed with the condition around the world, which will help gain a clearer picture of its prevalence.
“Probably one of our main priorities is growing that … we’re in about 96 different countries,” Ms Cross said.
“With the NDIS data, we’re able to see that there’s around 70 per cent not diagnosed [with Angelman Syndrome] in this country.”
The group has also put money towards three Angelman clinical nurse coordinators in Brisbane, Sydney, and Melbourne.
“So that we can have clinics working together rather than in isolation to help manage care because it’s such a complex condition,” Ms Cross said.
“One clinician might have seen a set of symptoms before and we feel like if we can get them talking about it, and spreading information across a larger group, it’ll help our kids better.”
Ms Snelgar believed being involved in the work and sharing Blair’s story was what her little girl would have wanted.
“I feel like it is almost like my life’s purpose now to continue talking about Blair, raising awareness for Angelman Syndrome, finding treatments and a cure,” she said.
“So that no other family has to go through what we went through because Angelman Syndrome isn’t a syndrome that kids should be dying from.”
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