Revolutionary treatment helps dwarfs grow | 60 Minutes Australia

the odds are slim just one in 20,000 and all it takes is one mutated gene for dwarfism to occur the impact of course is lifelong but now a team of Australian researchers is on the verge of a revolutionary new treatment for the most common form of dwarfism achondroplasia it's a drug treatment that actually grows the bones of children with the condition for the first time these kids have the chance of a life standing tall check him out [Music] sample AIO is king of the quad bone pretty quick through these parts racing between grapevines on the family farm near mill juror in northwestern Victoria he's 11 years old a meter tall and taking on the world Sam is at the forefront of a first ever treatment for dwarfism a treatment it's hoped could one day put an end to his condition these first early steps are really crucial in Sam's a pioneer and he's a hero and for someone like Sam it's going to allow him to to live his life to do the things he wants to do to be whoever he wants to be Sam suffers from the most common form of dwarfism achondroplasia a bone growth disorder caused by a mutated gene and because it's rarely hereditary for most parents like Natalie and Dom the news comes without warning or any family history of the condition what was that time like when the doctors said there's something not quite right about Sam well I think I bawled my eyes out probably their nose shock didn't won't shock you because I didn't know what it was I had no idea what these little precious baby and I we haven't seen any before but it was like Whitney we forgot to deal with it now what imagine a lot of parents would say how did that happen exactly when you're the one that it's happened to saying it's one in 20 thousands cold comfort because it's a hundred percent for you and your family professor Ravi savory Rhine from Melbourne Murdoch Children's Research Institute is a pediatrician and has been treating Sam since his first diagnosis okay relax bringing up again keep going far as you can in a condo pleasure there's a mutation or a spelling error in a gene that is like putting a big handbrake on growth so instead of growing at say ten centimeters per year these children's bones grow it's a three or four centimeters like most six-year-old girls Sarah Cohen is obsessed with frozen but she faces more challenges than most a life of serious health problems especially in her spinal cord so her parents Paul and Elizabeth are desperate for any treatment that might help Sarah grow and live more normally what are your hopes for a future I'd be happy I have lots of friends and family be successful and and healthy definitely definitely want to be healthy that burns got a funny name it's called a tibia can you say that yes now dr. Ravi Sabri Ryan is conducting the world's largest trial of its kind offering kids with achondroplasia the best chance yet over healthier happy alive you want to say that your blood is pumping everywhere it relies on correcting the flow of an important growth molecule called fgfr3 fantastic in people with dwarfism that molecule is overactive it's like turning on a tap and over watering a plant paradoxically the plan actually doesn't grow and because what it needs is the right amount water what we need is a system that says turn the water on for two hours in the morning in two hours in the afternoon and that's how this molecule works unfortunately children with achondroplasia the taps broken and it's on the whole time research on mice with achondroplasia has shown that injections of another type of molecule BM n triple one controls the overactive gene it actually grows the mice into normal size what this molecule does is it doesn't turn the tap off but it puts a kink in the hose which means that can resume more normal growth and this is the first time it's now being used in children with the condition so quite exciting and quite frightening at the same time do you know categorically that it's not going to harm the child we're becoming more confident so we've now treated 16 of these children and the main effects were potentially on blood pressure and pulse in the heart and it doesn't appear to have caused any of those effects at the moment Sam is one of only 20 kids in the world receiving the experimental therapy every two months he travels to the Murdoch Children's Research Institute so that every aspect of his development can be measured and monitored as we're lengthening the bone we want to make sure we're not lengthening the bone at the expense of density like spreading butter to thinner ELISA bread what do you think it's gonna do for you make me strong hair strong look how strong it's like the stronger than me but this isn't just about growing taller and stronger it's also so Sam can feel 10 feet tall and bulletproof Sam leads an active and happy life but he knows he's different and for Natalie and Dom it can be painful to watch how the world can treat him you know kids can be naturally cruel has he been confronted by that he knows he's getting there's points where he's getting looked at by other kids and there's been a few times here that he's had his mates around which have backed him up box a might say anything back because he just sort of thinks out whatever he can look as much as he likes but he's made to flee around him and I say something they'll stick up for him it's mature sometimes you must feel like throttling those other kids with the kids it's not to you BAE it's a bit funny when adults teenagers look eating that's when you sort of start thinking you know grow up when kids come up to you and they say things and they look at you stare here can you tell me how that makes you feel upset yeah absolutely in what way angry yeah would you like salmon bakelite can you go away yeah stop sitting isn't that that's you [Music] it's a major motivation for dr. Ravi who knows what it's like to grow up a bit different all looks good no problem I grew up in a small country town in South Australia called Y Ella and I was the only brown person in the school and as I say to my families who have a cut kid with dwarfism I don't look at your children as if they're short just like you don't look at me as if I'm brown is there a bit of that in your pursuit there's a lot of that is you know there's a lot of that in what I do right now Sarah has little idea she's different although in her case it's far more accurate to say she's special [Music] her parents Elizabeth and Paul are hoping that she will begin the drug trial this year if dr. Ravi rang you right now and said I want Sarah to be part of this trial would you say yes absolutely well I think it helps potentially make her bones grow more normally so that she won't have their problems with their back and maybe her joints as much and we'll be able to live a more normal life yeah she's still think she's gonna play for the cats she hasn't worked out the kill the girl boy thing yeah [Music] they may be smaller than most but they're certainly braver and more determined and if dr. Robbie is proven right kids like Sam may be making medical history it's very very exciting and I I'm convinced that these are the first steps we're taking to really offer a significant help for these children worldwide I think Sam and his family are heroes to me and are wonderful people what do you think is Ravi your doctor [Laughter] hello I'm Liz Hayes 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 exclusives 60 minutes content

Channel: 60 Minutes Australia

Views: 177,046

Rating: 4.8630033 out of 5

Keywords: 60 Minutes, 60 Minutes Australia, Liz Hayes, Charles Wooley, Tara Brown, Liam, Bartlett, Allison Langdon, Tom Steinfort, dwarf, dwarfism, midget, growth, kids, children, science, achondroplasia, dwarfism cure, cure for dwarfism

Id: MgDW8v9t96E

Length: 10min 27sec (627 seconds)

Published: Thu Nov 01 2018