Sisters battle rare, fatal genetic disease found in 100 people worldwide

YOU ARE WATCHING NEWS CENTER FIVE AT 1100. AN ESTIMATED 100 PEOPLE WORLDWIDE HAVE THE SYNDROME TYPE C. 3 LIVE IN BELMONT. ONE LOCAL FAMILIES STORY OF COURAGE AND HOPE. FOR BELMONT PARENTS PAUL AND NANCY BURKE, THE WAR IS NEVER STOP. THEY HAVE ORTHOPEDIC PROBLEMS, HEART PROBLEMS. IT IS A CONSTANT STRESS. THE LOVE AND SUPPORT DOES NOT STOP EITHER. THEY GET UP EVERY DAY WITH A SMILE ON THEIR FACE EVEN THOUGH EACH DAY IS SO CHALLENGING FOR THEM. HOW COULD WE NOT GET UP WITH A SMILE ON OUR FACE.

WAX IT STARTED WHEN THE OLDEST OF THEIR THREE GIRLS STARTED HAVING TROUBLE IN SCHOOL AT SIX YEARS OLD. EVERYTHING WAS FINE PRIOR TO THAT. HER HEALTH KEPT GETTING WORSE AND IT WOULD BE ANOTHER THREE YEARS BEFORE A WERE FINALLY TOLD WHY. ONE OF THE MOST TERRIBLE DISEASES THAT EXISTS. SHE HAS SANFILIPPO SYNDROME TYPE SEE TYPE C, THE RAREST FORM OF A DISEASE THAT DESTROYS CENTRAL NERVOUS SYSTEM. RESEARCHERS ESTIMATE JUST 100 PEOPLE WORLDWIDE HAVE THIS AND THEY SOON FOUND OUT DAUGHTERS LINDSAY AND KELSEY DID TOO. THE MATERIAL ACCUMULATES IN.

THE BODY, IN THE BRAIN, UNFORTUNATELY. IT ALSO CAUSES SOME OTHER ABNORMALITIES SUCH AS WARS AND FACIAL FEATURES. COARSENED FACIAL FEATURES. AT THAT TIME, THEY TOLD US THE AVERAGE LIFE EXPECTANCY WAS 14. YOU ARE SO SHOCKED AND YOUR HEART IS RIPPED OUT OF YOU. YOU CANNOT GIVE INTO IT OR WALLOW IN IT BECAUSE YOU HAVE A FAMILY TO TAKE CARE OF. OVER THE YEARS, THEY HAVE HAD TO WATCH THE CHILDREN THEY ONCE KNEW SLIP AWAY. THEY PLAYED BASKETBALL, SOCCER. THEY RODE HORSES. THEY DID EVERYTHING. WE GOT TO KNOW THEM.

WE GOT TO KNOW THE PEOPLE THAT WE THOUGHT THEY WERE GOING TO BE. JILLIAN, THEY'RE HAPPY SUNSHINE. LINDSAY, SUITE AND CURIOUS. KELSEY, THE SPITFIRE OF THE FAMILY. FAST FORWARD TO TODAY. ALL THREE HAVE COGNITIVE IMPAIRMENTS, TROUBLE COMMUNICATING, AND BALANCE ISSUES. LINDSAY HAS A FEEDING TUBE. DESPITE IT ALL, THEY'RE SWEET SPIRIT AND STRENGTH STILL SHINE THROUGH. ALL THREE GIRLS, NOW IN THEIR 20'S, ARE BEATING THE ODDS. WE STILL BELIEVE THAT SOMETHING CAN BE DONE, THAT THEY CAN HAVE A FUTURE AND THAT IT CAN BE REVERSED. A CURE.

Maxs story a Genetic Disorders UK Jeans for Genes Day film

Hello my name is Max and this film is all about me. I am six years old and my brother Thomas is 11 years old. I have a condition called hy.po.hidrotic ecto. hypohidrotic ectodermal dysplasia. I am the only one with the condition in my family. Dad, can you explain what my condition is Well it's a genetic condition, and a genetic condition you are born with. Your body is made up of genes, and genes are the instructions that tell your body how to grow and how to work. In your case one of your genes didn't work properly so you have ectodermal dysplasia,.

And some parts of your body are different to other people's. So your hair, Max, is very fine and very sparse and doesn't grow as much as Thomas's, does it I mean Thomas has to get his hair cut all the time but you don't have to have your hair cut as often as he does. But you still gel it up and spike it up, don't you Now your teeth, you haven't got any teeth, have you That's part of your condition as well. Some of the children who have this condition, their teeth don't form properly,.

And for you, you haven't got any teeth at all. Now because you haven't got any teeth we have to watch what you eat quite closely, and so you have to eat a lot of soft foods, and some different foods to Thomas because you can't chew them or bite them. But an apple, you couldn't bite an apple, could you That still doesn't get you out of cleaning your gums! Dad, why is it that I get hot sometimes The reason you get hot is because your sweat glands haven't formed properly,.

And sweat glands help control your body temperature. So when you get hot, people normally sweat and that cool's people down. But because you can't sweat we have to cool you down in other ways, so that's why we have lots of drinks and lots of cold water to get you cool. So when you play football, because you're running around a lot we have to make sure that you're not getting too hot, so that's why when we go to watch me and mummy have the water sprays to keep you nice and cool,.

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.

Why Are Some People Albino

Albinism is a rare genetic condition where a person's body isn't able to make skin color. But what exactly is albinism and how common is it Hey Guys, Julia here for DNews Albinism is a genetic condition, where a person's body isn't able to make pigments, so people with this condition have white skin and hair, with light blue or pink eyes. Albinism is a complex disorder. You get your skin, eye and hair color from melanin, which is distributed through a number of genes but if one of these genes carry a certain mutation.

The amount of melanin that is distributed throughout your body changes. Or sometimes this mutation will keep your body from producing any melanin at all. Melanin is produced by cells called melanocytes which are mostly found in your skin and eyes but also in your hair. People with darker skin have a higher concentration of melanin in their skin as opposed to fair skinned people. Albinism is the absence of melanin completely. And it's not just people, any animal with pigment can be albino. Albinism is passed down genetically. In most cases, there is someone in the family tree.

Who also has the condition. But not all cases are the same. There are actually many types of albinism that all affect a different gene mutation. Oculocutaneous albinism, which is when it affects your eyes, skin and hair, ranges from type 1 to type 4 with varying degrees of melanin impact and affects 1 in every 20,000 people. The most severe version of albinism is oculocutaneous albinism type 1 or OCA 1. OCA 1 is caused by a mutation in 1 of 4 genes. It's characterized by having pink or white.

Skin, eyes and hair. Some babies born with OCA type 1 do develop slight pigmentation during their early childhood but many born with this type of albinism never do. OCA type 2 is less severe than type 1, skin and eye color will be pale but hair color is more likely to be red, yellow or auburn. OCA type 3 mostly affects people who are darker skinned and will create a reddish light tan tone along with auburn eyes. OCA type 4 is very related to type 2, it's hard to diagnose.

Which type of albinism is at work and is best left to genetic testing. Another type of albinism is ocular albinism type 1 OA1, also called NettleshipFalls syndrome. Much like its name suggests only the eyes are affected by the genetic mutation, while hair and skin will remain the same. This happens only when the genetic mutation of an x chromosome is inherited so it occurs mostly in males. The eyes will appear blueish pink, the iris is super translucent and the most important part of the eye the fovea,.

Which is responsible for a sharp image does not develop properly. However any degree of albinism comes with vision problems which include being cross eyed, being sensitive to light, rapid eye movement and functional blindness. An estimated 1 in 20,000 people worldwide are born with it and affects about 20,000 people in the U.S. every year. OCA type 2 happens more frequently in African Americans, Native Americans and in SubSaharan Africa. Nigeria has one of the highest prevalence of Albinism in the world with over two million people affected. There are many myths that surround albinism and why it happens. While it is true that.

People with albinism can't tan and many can get very serious sunburns, the chances of getting skin cancer is just as high with anyone else who spends a lot of time in the sun. Other myths include the belief that albinos posses magic traits or bring bad luck. Some tribal communities in Africa persecute them, forcing them to leave their native communities or be killed. Places like Tanzania are having an especially hard time controlling this myth, where sacrifices and the belief that albino body parts bring good luck causes a spike.

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.

Using stem cells to treat EB

Narrator Oreos are two year old Nate Laos's current favorite snack that may seem insignificant, but it's actually remarkable. He can eat solid food. Nate and his 5 year old brother Jake have a rare genetic condition called Epidermolysis Bullosa or EB. Teresa If you picture Velcro, one side is muscle one side is skin there's actually hooks that are anchoring in to the muscle tissue and holding the skin on. The form that my boys have, we don't have those, so basically the skin kind of shifts around or it just.

Peels right off. Narrator EB makes everyday life a challenge. Nate and Jake must be wrapped with bandages to protect there skin and allow wounds to heal. EB makes skin so delicate, a seam of a piece of clothing can cause the skin to blister and come off. The risk of life threatening infection or cancers is so great few EB patients reach the age of 30. Teresa Eating and drinking is difficult, anything that goes in their mouth basically causes tissue damage. Narrator But there is hope on the horizon for the Lao family, and the thousands of families.

Who share their struggle with EB. A team of researchers at the University Of Minnesota has discovered a cure. John Wagner It is very unusual to say that you have a cure after just one patient. However what's extraordinarily different about this particular case is the fact that we've been able to demonstrate by electron microscopy also by protein analysis and also by looking at the patient. That we made a fundamental change, what was not present at all to begin with is now present. Narrator What's now present is collegian seven, the key to the form of EB that affects.

Jake and Nate. It's a protein that allows skin to hook into muscle. Researchers believed if they could correct the collegian seven defects they would reverse the effects of EB. Here's how they did it, through trial and error Dr. Jacob Tolar treated mice genetically altered to have EB. With different types of healthy bone marrow and cord blood cells. Some of the mice lived and there blisters cleared up because they were producing collegian seven, the protein missing in the Lao boys. John Wagner So once we had the results of the animal model, we had the proof of principle.

That a cell population from the marrow could correct Epidermolysis Bullosa. We took that strategy first proofed in the mouse and then applied that to a clinical trial. Narrator In October of last year, Nate received a transplant of cells from bone marrow and cord blood from his brother Julian, who is a coincidental perfect match and is not affected by EB. Seven months later Nate's collegian seven levels are near normal and his skin is noticeably less blistered. Teresa Before when you looked at Nate, he looked like his skin was kind of thin. In.

Parts he almost kind of looked translucent. It appears that, that layer was missing is there. John Wagner We truly believe that having now corrected the collegian type seven deficiency, that he will no longer have that risk of cancer. That he will no longer have the risk of mutilating scaring, that his quality of life will be enhanced tremendously. Teresa To be able to throw him in a bath tub, put their pajamas on and put them to bed would be an amazing thing, without having to worry about all of the nutritional needs.

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Maxs Story A Genetic Disorders UK Jeans For Genes Day Film

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