A parent's impossible choice: saving siblings with rare Sanfilippo syndrome | 60 Minutes Australia

a parent's love knows no bounds especially when a child is diagnosed with a deadly disease but what lengths would you go to if the disease was so rare but pharmaceutical companies saw no profit in developing a cure well more and more parents have desperately sick kids are taking matters into their own hands armed with passion and the power of the Internet they're bringing urgency to the usually glacial pace of drug discovery some are leading the way to a cure many are ruffling feathers in the conservative medical world either way it is the ultimate parent power and it's changing the face of pharmaceutical research [Music] I love Donnell and her brother Jude are sharing a birthday Pilar is 5 years old Jude has just turned 3 for their parents Megan and Alan today should be all about celebrating life's blessings I love very girly things fairies and to cheese and Jude runs a million miles an hour and climbs just about everything with me [Music] both of them very happy and they're good friends [Music] but emit the bubbles and birthday cake these seemingly healthy young siblings share a terrible condition called Sanfilippo syndrome a rare genetic disorder that without a cure will mean steady mental decline and ultimately a young and painful we had the perfect family you know Authority and all of a sudden I tell you that something wrong it's pretty acting attack you know [Music] the doctors are clear in the early on just kept saying to us but this is so rare but this is so rare but that doesn't matter it doesn't matter how rare it is to us because it happened to us now the Donalds have joined a global alliance of families who are changing the face of drug discovery they're raising millions to fund stalled research the donations that come in are going to fund this clinical trial and the driving scientific breakthroughs can you reverse the condition that's the big question Michael but with a cure now inside there are results it's totally amazing I mean absolutely groundbreaking there is a cool twist who will be chosen there are only 15 places in this trial that's right 15 places worldwide so you'll do anything won't you exactly you've got to make it happen mr. country unknowingly Megan and Alan each carry the particular defective gene that means Euler and Jude inherited Sanfilippo syndrome the deadly metabolic disorder is officially classified as ultra rare affecting one in 70 thousand births then the two of you come together and even then we only had a one in four chance of any child that we have having Sanfilippo and so for them both to have it you know we we won some sort of reverse lottery or something [Music] buddy one of the many cruelties of Sanfilippo is the children are born in seemingly perfect health and for the first years of their life they keep pace with the other kids but then progress stops steady decline begins and right now there is no proven cure the journey between being relatively healthy as our kids are now and the end is quite devastating I'll tell you shoes often even climb better huh Sanfilippo children black an enzyme required to break down complex materials in the cells as part of the metabolism process if nowhere to go who the material turns toxic and from the moment the child is born builds up in the central nervous system the result is slow but unstoppable brain damage that begins with mild delays and development we need to find some new shoes probably around the age of two and a half we were a little bit nervous or a bit worried about her speech she had a lot of single words but wasn't really joining them together into sentences like we saw her peers do the rarity of Sanfilippo syndrome means many doctors have never encountered it 18 months passed before isla was diagnosed couldn't believe it couldn't believe that but that morning our daughter was slightly delayed and that evening she was terminally ill then a month later more crushing news Megan and Alan learned that dude who'd shown no signs of developmental delay has also inherited Sanfilippo it was almost harder genes diagnosis because then we had nothing whereas when we thought that she'd was okay always going to be okay we knew that he would be the hope that kept us going and so I think when we got the diagnosis for him it was it just finished a seven it will be there when we get there as the Donalds were coming to grips with their new reality in the American state of South Carolina another family of four was confronting a remarkably similar nightly [Music] every dream that you had for your family and your child of growing up and doing things with her and helping her through school and dance practices and you know I mean it's just the normal stuff so we kind of take for granted that it's gonna happen and getting married and going to college and you know that it all goes right it goes through your mind immediately like you just see that life and you see it it's is that it's not not gonna be there Glenn and Cara O'Neill learned their daughter Eliza at Sanfilippo syndrome within weeks of the Donalds diagnosis in Australia they too were told by doctors there was no hope you know I mean you can't even think anything like this even exists you're telling me at your child's gonna be you know pretty much normal up to thirty three and a half and then everything's gonna go backwards Glenn and Cara knew they couldn't wait for a miracle so they set out to make their own finding a cure for this incurable disease against a looming deadline that just didn't bear thinking about it became really clear how quickly things go really really bad in this disease and you know five six things just start taking a big so it went from oh we've got eight years to we've got 18 help we've got no time Yeah right you are racing against the clock you are racing to try and find a cure and if the eight at the age she is now given the syndrome there's no telling if she'll be speaking in six months hmm a lot of children by age five or not and she'll be five in November in the earlier days there was no treatment not even thought of and the children just died but now there's a treatment that needs to be evaluated in trial that is an extrordinary building so how many laboratories here there are six things head of biochemical genetics that Adelaide's Women's and Children's Hospital Professor John Hawkwood has dedicated the past 40 years to finding a cure to Sanfilippo syndrome he's developed gene replacement therapy that cures mice the great hope is that it will work just as effectively on kids so you know in a mouse you can't stop it you've proven that yes if you start early in a mouse then you can prevent the condition from developing and from your thinking it's entirely possible that it may well work in human trials of course of course can you reverse the condition that's the big question Michael but the the earliest started the process of treatment the better chance you've got of slowing or reversing the condition in a very significant way there are results and it's totally amazing I mean absolutely groundbreaking it was just absolutely remarkable what this therapy was offering this was the holy grail for the O'Neill's and doníts a cure that was tantalizingly close but there was one major hurdle money for human trials because Sanfilippo is such a rare disease investing in a cure is not commercially attractive for pharmaceutical companies the money isn't necessarily there for the big pharmaceuticals and it's just not known so so people aren't screaming for it in the in the large volumes of population that they're doing some other diseases that's not your job just cream yeah a big voice so the Donnell's and the O'Neal's join the new driving force in the world of medical research parent power families pushing to find cures for neglected and rare diseases Megan quit her job as a management consultant and established the Sanfilippo Children's Foundation you know we Skype with scientists in in Britain we Skype with families in Poland in the in the US you know we we join online forums we have access to just about any academic paper that's been digitized you know the the level of information and the speed at which we can access it in the way that we can engage with people I think I've never felt so empowered out of a completely hopeless situation but the challenge was overwhelming human trials would cost two and a half million dollars in February we had raised you know a nice amount of money two hundred fifty thousand by that point but we knew the goal you know we needed to get two and a half million and we were just we're not gonna get there you're fighting to save your daughter exactly and especially when you're on such an urgent timeframe you don't have the luxury to wait around and hope someone else will step up and do for you you've got to you've got to make it happen coming up human trials get the green light there I want the parents all around the world at the same time but there are only 15 places it is Eliza guaranteed a place in Manhattan the impossible choice it's unlikely we'll get to those places that's next on 60 minutes Megan and Alan Donnell are in a life-and-death race against time both their children isla and Jude have a degenerative genetic disease Sanfilippo syndrome they found a likely cure but they need millions of dollars to start human trials before the effects of the disease are irrevocable you're fighting to save your daughter exactly it's a fight they're waging with families like the O'Neal's in America whose daughter Eliza also has Sanfilippo syndrome you are racing against the clock you are racing to try and find a cure and at the a at the age she is now given the syndrome there's no telling if she'll be speaking in six months Glenn and Kara O'Neal have already relied on the power of the Internet to find a likely cure for four-year-old Eliza so they turn to it again for the fundraising phenomenon of crowdsourcing they're saving a Liza video they booed on YouTube in April and immediately went viral you know where it's headed it's headed towards towards suffering it's headed towards pain for her and as a father you you want to be able to be able to protect your children she will develop seizures and movement disorders experience a lot of pain and suffering and then she'll die in the first two weeks $600,000 rolled in and it keeps going out every couple of minutes it seems like with it with the video honestly you know it's so it's hard to keep track [Music] together with the Donalds and other families around the world they've raised more than a million dollars enough to start human trials in December would you be at this stage if it wasn't for the power and the determination of these parents well so the short answer is no dr. Kevin Flanagan is overseeing the trials at Nationwide Children's Hospital in Ohio at every step of the way the parents have played a key role there are fundraisers in the backyards or at school bake sales or things have really played paved to pave the way for the progress that we've made the treatment builds on the groundbreaking research by Professor John Hawkwood in Adelaide the gene replacement therapy uses a virus to deliver a healthy gene into the brain if it works as it did in mice that single injection will stop the disorder in its tracks yummy and the children on the trial would become the first-ever survivors of Sanfilippo syndrome what would it mean though if your children are chosen for that trial that human trial I can't I can't actually let myself fantasize about that that would be a miracle yeah it would be a miracle but there's a cruel twist in this family's terrible ordeal the trial is only big enough for 15 children Megan and Allen know the odds are against them 15 places worldwide so we're really stick that it's unlikely that we'll get two of those places having achieved so much together Megan and Allen Glen and Cara finally get to meet in America here they are now but it's bittersweet because these two families that have worked so tirelessly to ensure the trials go ahead find themselves vying against each other for the 15 spots available and it's horrible to say I mean I sound like that's a competition but the reality and there are lots of parents all around the world just like us with the same hope it's a tough decision before professor Flanagan and his research team they must decide which 15 children in the world will get the most benefit out of the drug trial just watching them play one can tell very much how they're doing we can get such a greater picture of their function by just watching them do this we should do all our exams and rooms like this it's such a small number I mean it's such a small number and it's a scary small number but that's the way these trials work when you're doing all of this work all of this fundraising not even knowing if Eliza will be accepted into the trial that's incredibly tough to deal with yeah yeah really I mean what do you do there they're new their new families that get diagnosed and several have come to us and they say what do you know in the world that where's the research and I'm gonna tell them I'm gonna tell them Ohio and I tell them how great it is and I tell them is gene therapy because ethically that's thank you could never know you can't tell them that at the same time you know your you know your you know you people are people there's all spots mm-hmm they're gone for [Music] megan has made this trip to Ohio carrying the dreams of other Australian families who are dealing with Sanfilippo hoping that good news for her kids is good news for theirs as well I'm hoping that we'll come back here hoping that other Australian children will have the opportunity to come back here and I'm hoping that the work that we're doing as a foundation will enable that I mean it feels so real now it feels so real yeah you just want to hand your children over now absolutely [Music] whatever the future holds for these family for the love of their children they've pushed medical research another step further and perhaps even saved other lives still to come they can certainly influence things by the passionate and the energy they put into selling their particular point and someone like Megan is incredibly passionate she is she really is she's a wonderful person you need people like the Donalds they're very rare we need to encourage them and support them and to hold them close somebody said to me the other day green sheets don't always grow a plant and that's true it might not work but it's the only chance that we have and so we're chasing that with everything we have you can donate to the Australian Sanfilippo Foundation and support their work by going to their website hello I'm Tara Brown thanks for watching to keep up with the latest from 60 minutes Australia make sure you subscribe to our Channel you can also download the 9 now app for full episodes and other exclusive 60 minutes content

Channel: 60 Minutes Australia

Views: 650,435

Rating: 4.8354506 out of 5

Keywords: 60 Minutes, 60 Minutes Australia, Liz Hayes, Charles Wooley, Tara Brown, Liam Bartlett, Allison Langdon, Tom Steinfort, Ellen Fanning, Peter Overton, Karl Stefanovic, Ray Martin, Peter Stefanovic, Jana Wendt, Jeff McMullen, Jennifer Byrne, Mike Munro, Richard Carleton, Tracey Curro, Gerald Stone, Sarah Abo, saving eliza, gene therapy, eliza o'neill, parent power, sanfilippo syndrome, san filippo

Id: eMCWZdUEbcM

Length: 20min 2sec (1202 seconds)

Published: Fri Mar 20 2020