Teenager Suffering From Rare Harlequin Syndrome

0001 Hunter People need to understand that it's ok to be different. It's ok to not fit the norm because there is no norm. 0009 COMM When people first meet teenager Hunter Steinitz, many believe she's been a victim of horrific burns. In fact, Hunter was born with ultrarare genetic condition, Harlequin Ichthyosis, meaning her skin is too thick and leaves Hunter with scaly dry patches all over her body. 0025 COMM Her arrival in the world was a shock for mum Patty and dad Mark. 0030 Mark You can tell in all of those individuals,.

Those medical people in the room, their faces, right then, I knew something was clearly wrong. 0041 COMM In the past, sufferers often died early because they miss vital defence barriers in their skin. Today, raised awareness and new medical techniques are helping people like Hunter live long lives. 0054 COMM The condition poses many challenges for sufferers, who have to grow up in a world where people point, stare and react badly to them. 0103 Hunter Gym was the worst because gym, you know, you're forced to be in physical content with one another. People would flip out and.

A lot of the time the teachers wouldn't do anything because they don't know how to react. 0116 COMM After years of harsh bullying, Hunter started to question things. 0120 Hunter Maybe I deserved it. Maybe, you know, I was this freak and I was this different entity. I didn't deserve to be around normal people. 0131 COMM But not everyone was mean. Some pals, like Samantha Beers stuck by her, no matter what. 0136 Samantha I've been friends with her since we were 3 because she was there for me when I needed her.

0140 COMM With support from her true friends and loved ones like dad, Mark, Hunter turned a corner and began to change the way she saw herself. 0148 Hunter I'd be a totally different person without it. My family would be different people, I wouldn't have the same friends and so I owe everything about my life to, you know, the disorder. 0201 Mark She recognises that she can do whatever she chooses to do, and that there isn't anybody out there, regardless of the kind of confrontation they provide her because of what she looks like, that can prevent her from doing it.

0216 COMM With a new lease of life, Hunter is now helping to educate others with motivational speaking. 0222 Hunter People need to understand that it's ok to be different. It's ok to not fit the norm because there is no norm. 0231 COMM With a fresh outlook, Hunter is now preparing for life at university and she's ready for anything. 0236 Hunter For every 2 idiot who can't get it into their thick skulls, there's another 3 who are gonna open up to some level, who are gonna be able to see past it and be able to see me. I'm not normal and proud of it.

Infant has rare genetic disorder

THIS WEEK, A JUDGE LOWERED HER BOND FROM $150,000 TO $100,000. JEREMY IT IS A DISEASE THAT CAUSES BENIGN TUMORS IN ORGANS ROUTE THE BODY. AN EIGHTMONTHOLD BABY IS FIGHTING THOSE TUMORS ALL HER MOM WHILE HER MOTHER FIGHTS FOR THEM. ALEX FROM THE OUTSIDE, IT IS HARD TO TELL THAT MAYA IS DEALING WITH SO MUCH ON THE INSIDE. SHE WAS BORN WITH TUMORS IN HER BRAIN AND IN HER HEART. NOW SHE HAS TUMORS IN HER KIDNEYS. SHE STARTED HAVING SEIZURES WHEN SHE WAS FOUR DAYS OLD. ALEX ONE IN.

6000 NEW BOARDS HAVE THIS DISORDER. DOCTORS SAY IT IS CAUSED BY A GENE MUTATION RESULTING IN OVERGROWN TISSUE. IT MOSTLY MANIFESTS ITSELF IN THE BRAIN AND IN THE SKIN BUT IT COULD POTENTIALLY AFFECT ANY ORGAN IN THE BODY. ALEX HER DOCTOR, WITH THE METHODIST HEALTH SYSTEM, SAYS THE DISORDER CAN LEAD TO MENTAL HEALTH ISSUES. SHE GOT DIAGNOSED THE BABY. ALEX AT EIGHT MONTHS OLD, SHE TAKES SEIZURE MEDICATION THREE TIMES A DAY AND CHEMOTHERAPY MEDICATION FOUR TIMES A WEEK TO SHRINK EXISTING TUMORS AND PREVENT NEW ONES FROM FORMING.

Did Scientists Cure Down Syndrome

Down syndrome occurs is the leading genetic disorder in the world, and a new study might have found a way to reverse it. Hey everyone, Trace here for DNews with some interesting new breakthroughs concerning Down syndrome. The genetic disorder is caused by an improper replication of chromosomes with the 21st having a little extra. A comprehensive distinction was created by John Langdon Down in 1866. He, rather insensitively, called people with Down syndrome mongoloids. Arguably an upgrade from the term idiot which they'd previously been associated. People were really mean in history! By the 1950s we knew it was a chromosomal genetic condition,.

But it wasn't until the 2000s that we really figured this thing out. Down syndrome can be diagnosed in the womb, and manifests outwardly with an upward slant to almondshaped eyes, a flatter face structure, small ears, hands, feet, neck and overall stature, low muscle tone and a crease across the palm. Doctors, however, are focusing on the INTERNAL genetic changes namely those in the brain. People with Down have a smaller cerebellum the part of the brain associated with motor control and a smaller hippocampus thought to work with memory and understanding of space.

A study published in Science Translational Medicine claims a new drug may reverse the cerebellum's abnormality! The cerebellum in someone with Down is 40 percent smaller than the average brain. Mice genetically engineered to have Down were given a drug on the day they were born designed to stimulate the growth of the cerebellum. The Sonic Hedgehog protein affects the signals for embryonic cell development in bilateral brain animals Yes. It was named after Sega's mascot. The drug they injected was called the sonic hedgehog pathway antagonist, you can't make this stuff up. I love science.

Not only did it work, restoring the cerebellum to 100 percent normal, but the mice's learning and memory improved too even though the hippocampus remained unchanged! The Down mice who'd been treated with the sonic hedgehog pathway antagonist performed JUST AS WELL as the normal mice without the chromosomal engineering. This was shocking. The researchers aren't sure HOW this treatment helps the brain perform normally, but they assume the regularsized cerebellum must be able to better communicate with the hippocampus They know they need more study, either way. There are 6,000 Down syndrome babies born every year in the U.S. and thanks to medical.

Science, the lifespan of someone with the disorder has skyrocketed from 9 years in 1910, and only 25 in 1980. Today, it's 60. When this study was released, many websites claimed it was a QUOTE single dose cure, but we've got a lot more to do. People with Down syndrome won't be cured by this drug, but it's a HUGE step in the right direction for understanding potential treatments! Go get a degree in science and help! Do you know another genetic disorder you'd like to know more about Maybe that you'd.

We Can Use Selfies To Identify Genetic Disorders!

Okay, now I just email that to Dr. Woo. and. Boom! Done! I wonder if they'll find any genetic disorders. Hey gang, Trace here for DNews with the latest research on human photography. Looking for scientific data in photos has exploded. Analyzing medical images is big business. Back in 2012 researchers at MIT's Computer Science and Artificial Intelligence Laba were able to use images of the brain and computer analysis to track how disorders like schizophrenia originate and spread through our grey matter. The network of cells and connections INSIDE the brain is slowly being decoded and analyzed. But to get this procedure you have to go get.

Your brain scanned a few times. Not something you can do with that telephone in your pocket. Humans take a lot of pictures, especially with the introduction of digital photography according to 1000 Memories, humankind has taken 3.5 trillion photos since 1826, but MOST of those have been digital. We take more photos every minute than were taken in the whole 19th centuryb, and 3 to 5 percent of all photos taken are selfiesc. A neuroscientist from the University College London believes we love taking selfies because we can't see.

Our own face! We're learning to move it the way we want, and show the best version of ourselves. Scientists at Oxford created a computer which can explore the millions of images we create and look for people with Down's syndrome, fragile X syndrome, and progeria. These rare genetic disorders might be overlooked by a human doctor, but not Doogie. It doesn't have a name, but I think it should be called Doogie. This guy uses facial recognition software to identify 36 feature points of interest across the face called the facial gestalt.

The team identified the parts of the face and then diagnosed a disorder. It got it right 93percent of the time. As of this month Doogie knows 90 diseases and the more faces it learns, the better it gets at diagnosing. There are 7000 different inherited disorders, and most go undiagnosed. But, if this system could send an email to your doctor narrowing down the expensive and timeconsuming trial and error process of diagnosing some of these rare disorders. Hooking something like this into a system with a lot of photos could be a gamechanger for people with these hidden.

Disorders! The Library of Congress largest library on the planet has about 13.7 million photos, that's pretty good. But Facebook has 10,000 times more their library is 140 billion photos and growing FAST. As the internet spreads to more and more people and selfies run amok, the data humanity is creating could potentially give a snapshot of what is happening economically, socially, politically, healthily ,and maybe other allys too! These are potential mines of scientific data. The selfie future's so bright, I gotta wear shades. Worried about privacy Excited for the data I'm totally okay with it, but I stand here.

Every day, so my experience is a little different. Tell us down below and thanks for watching DNews! Subscribe for more, every day of the week aaand as long as you're in a subscribing mood. Come check out our new sister show, Test Tube. We cover world events, trends and actual like. news mixed with a bit of humor. Hit the subscribe now and get that show in your inbox the same way you're getting Dnews. Thanks for tuning in! Come say, Hi, on Twitter! We're atDNews, and I'm atTraceDominguez.

Child with Rare Bubble Baby Syndrome Trials Worlds First Cure

COMM She may look like a normal healthy baby, but Nina Warnell suffers from an extremely rare condition that has left her without an immune system, meaning just a common cold could kill her. Graeme Nina was born in Poland, which was where I've been working on a sercommon. Everything was good, the birth went well and we had a very healthy 9 pound daughter. Everything seemed fine, breastfeeding was going ok, then slowly over a period of time, we noticed less and less feeding and more and more sleeping, which was when we started to get concerned.

COMM Nina was diagnosed with Severe Combined Immunodeficiency Syndrome. Known as 'bubble baby' syndrome, the rare condition effects just 1 in 300,000 babies. Aga It was the hardest time of my life and I didn't know what was wrong with my baby and there was no one to give me those answers. Graeme You could just see her getting weaker and weaker and literally wasting away in front of your eyes. COMM As Nina's health deteriorated, she was moved to Great Almond Street hospital. Doctors there saved her life and created a temporary.

Immune system for her. Nina is now administered weekly enzyme replacement injections and given 15 medications each day. Graeme, Aga and their daughter Mia follow a strict daily regime of cleaning hands, surfaces, even sterilising toys. Graeme Our lives aren't the same as they used to be and it's a strange experience because you lose concept of what normal actually is. We don't really go out, we don't really socialise. My wife very much lives within these walls here, apart from the occasional times when we can, you know, go out in the push chair.

As long as it's fully enclosed in plastic sheeting, so we've lost a lot of social interaction COMM Nina is now undergoing a cutting edge and pioneering form of gene therapy. Graeme Gene therapy is, at this stage, experimental. COMM She's undergone a course of chemotherapy and had her bone marrow harvested, and inserted back into her body. The treatment has been a rollercoaster of emotions for Nina and the family, but it's hoped that one day, she will live a normal life. Aga After six months, there is a review,.

KT releases DNAscreening test for newborn babies 50

A Korean company is gearing up to launch a new DNAscreening test. The test could enable doctors to treat newborn babies born with genetic disorders much earlier than before. Park Seyoung has the details. Many genetic disorders are treatable when detected early but theyre usually caught too late due to a shortage of screening tests. Now Korean mobile carrier KT has teamed with a local gene analysis laboratory to launch a new DNAscreening test for newborns. This mother brought her twomonthold baby into the hospital to get a peek at its.

Genes. I had a miscarriage last year and have a lot of worries about even minor symptoms so I came for a checkup. The test named NobelGuard is a combination of KTs big data analysis technology and Lab Genomics DNA sequencing technology. Using the labs database of over 300million genes and KTs technology the test can quickly and accurately detect some 50 genetic diseases in their early stages. Differentiating normal and abnormal gene sequences from the large database requires highcapacity computing and analysis which we provide. At less than a thousand U.S. dollars the.

Luisas Baby Promo

Luisa Saupo lives in Samoa. She was born with a condition known as Brittle Bones. I just want a family of my own. When I found out I was pregnant, I was surprised. I never thought that I could have a child. He is a miracle. Luisa got a special medical visa so she could have her baby in New Zealand but isn't allowed to stay here permanently. Her whole family live in New Zealand. They're worried about who's going to help me look after the baby. She has no support in Samoa.

You need to face the reality that you are a bit challenged in the physical department. Oh! So heavy! I can't carry him, as much as I want to. but it's just, I can't. I put him in here to make him go to sleep because I can't hold him. Luisa's running out of options and may have to hand her baby over to family in New Zealand. If I let him go, he might not know I'm his mother. I really want a winwin thing but for my family. I have no other choice.

Preventing inherited diseases to babies , ,.

Major advances in science in recent years allow parents to know the genetic makeup of their unborn babies, which is useful for when it comes to identifying risks for potential diseases. But some worry this research will one day lead to socalled designer babies. Shin Semin reports. Parents pass on their characteristics to their children. and sometimes that includes traits they dont want them to have. like diseases. Researchers at the Oregon Health and Science University have been working to help prevent the passing of inherited diseases on to the next generation. So far, they say their test research with.

Monkeys has been successful. This will work in humans because we tested it in other primate, nonhuman primates. So this is as close as we can get. The focus of their work aims at extracting abnormal mitochondria from the DNA that is passed on from a mother to a child. Although mitochondiral diseases are rare, once inherited by a baby, its often detrimental There is no treatment for inherited mitochondrial diseases and only few live into the adulthood. Research is still ongoing but ethical concerns are being raised about whether such a medical.

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