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  • iStock/ThinkstockBy DR. JENNIFER ASHTON, ABC News Senior Medical Contributor
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  • iStock/Thinkstock(ARLINGTON, Va.) — A 10-year-old girl’s musical dreams have come true thanks to university students and cutting-edge technology.Isabella Cabrera of Virginia was born without a left hand. On Thursday, she received a custom-made prosthesis created by five bioengineering students at George Mason University so that she could play the violin.“I think it’s going to help me by having more control with the strings and the notes,” Cabrera told ABC affiliate WJLA-TV.The process of creating the hand began last fall and included 100 hours of design and testing. The prosthesis was completed using a 3-D printer.Yassar Al-Hindi, who helped create Cabrera's prosthesis, put it simply: “Making an impact on someone’s life — it’s just a very good feeling.”Copyright © 2017, ABC Radio. All rights reserved.
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  • Sara McGlocklin/Facebook.com/hopeformarian(NEW YORK) — When Marian McGlocklin was born, she weighed just over 5 pounds. Her parents thought she looked extra "delicate.""She was having trouble gaining weight," Marian's mother Sara McGlocklin told ABC News. "We'd say she's so small and she's not very strong."Initially, doctors tried to reassure her that Marian was normal, according to McGlocklin. But, eventually, as the infant failed to meet certain milestones they suspected something was wrong.Last fall, doctors found that Marian's spleen was enlarged — a sign of a serious degenerative disease called Riemann-Pick disease, type C.The disease is caused by an inherited gene mutation, which does not allow the body to properly break down cholesterol and other fats (lipids,) according to the U.S. National Library of Medicine (NLM). The cholesterol and other lipids start to accumulate to the point where they become toxic in the spleen, liver and brain. Eventually, this kills cells and causes symptoms like intellectual decline, learning difficulties, seizures, tremors, clumsiness and unsteady gait."What we think of as her being delicate is her low muscle tone," McGlocklin said.It has been called "Childhood Alzheimer's" because of its degenerative effects on the brain, but McGlocklin said she thinks of the disease as far worse."I think the disease is even more shocking," she said. "It's a loss of every single skill you have."Many children diagnosed with the condition at a young age may not survive to adulthood, according to the NLM.Hearing the diagnosis was a shock for the McGlocklins."It was so devastating," McGlocklin told ABC News. "It was like the same feeling as when I found out my mom had cancer."While Marian was originally diagnosed at Children's Hospital of Los Angeles, her doctors quickly looked for experimental treatments that could suppress the build up of lipids in the now 19 month old.Eventually, after speaking with other families who have children with the disease, they found Dr. Elizabeth Berry-Kravis in Chicago, who is treating children for the disease with medication that has recently been FDA approved for rare pediatric diseases called VTS-270.While the drug is not approved by the FDA for broader treatments, Marian was a candidate to receive the investigational drug as part of the FDA's "compassionate use" program. This allows people with severe or fatal illnesses, with no approved treatment, to use drugs in development in certain circumstances.McGlocklin, along with her husband and two daughters, traveled to Chicago last week for Marian's first treatment. The drug is injected directly into Marian's spinal cord in the hopes that it will reach her brain to counteract the effects of the disease."It's like getting an epidural or a spinal tap," she explained. "They have a needle in her spine and they inject the medicine directly into her spinal fluid ... the theory is that the most possible will cross the blood brain barrier and gets into the brain."While the family is hopeful, McGlocklin said that it has been difficult to acknowledge her daughter will need this invasive treatment every two weeks for the foreseeable future."I asked the doctor how long is it going to take?'" McGlocklin recalled. "The doctor said we don't know for Marian, she is the youngest person to receive the drug."Dr. Elizabeth Berry-Kravis, who is treating Marian at Rush University Medical Center and the co-principal investigator of the drug study, said VTS-270 was discovered during tests on mice with Niemann–Pick disease, type C. VTS-270 was not the drug they were originally testing in studies; it was originally used as a way to dissolve the testing drug so it could be injected into the mice. However, researchers discovered that both the control mice and the sick mice were improving and VTS-270 was likely the reason. It then became the test drug and has gone on to win FDA approvals as an orphan drug and now a rare pediatric disorder
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  • ABC News(LOS ANGELES) — After an emotional performance Monday night on Dancing with the Stars, in which Nancy Kerrigan revealed that she'd had multiple miscarriages over the years, the Olympian sat down with ABC News’ Abbie Boudreau to talk more about her personal tragedies.The two-time Olympic medalist, who initially wanted three children, explained the emotional toll it took on her and her family as she struggled to have more kids. "It was devastating. It's hard on your marriage," she told Boudreau. "You think 'what's wrong with me,' like what did I do so wrong to make this happen," Kerrigan added, admitting she blamed herself.On Monday’s show, Kerrigan announced how she had six miscarriages in eight years after welcoming her son Matthew in 1996."It was really hard," she told her dance partner Artem Chigvintsev in a video created for the show. "It almost felt shameful I think, because I couldn't do it on my own," she added while Chigvintsev consoled her as she began."People have babies every day...What did I do?" Kerrigan said to Boudreau. Tearfully, the former Olympian continued, "It was my body. My body was failing and I don't know why.""Once the pregnancy was 12 weeks, so we were actually far enough along and told Matthew ... it was crazy hard to tell him," Kerrigan said, pausing to gather herself. "He was so excited he was gonna have a brother or sister -- and say that's not going to happen and try to explain to a little kid why ... It's so hard to go through because you feel like you're the only one."Kerrigan is not alone. According to the National Institute of Child Health and Human Development, miscarriage is the most common complication of pregnancy in the United States, occurring in 15-20 percent of pregnancies.Kerrigan said she and her husband Jerry Solomon eventually had another son, Brian, in 2005 and then a daughter, Nicole, in 2008 after in vitro fertilization treatments.Still, she said there's no concrete answer for how to move on through the situation she faced. "I don't know how you move forward. I don't -- it's sort of life, when you're faced with something unexpected you just do it.""Even with, when I finally had Brian it took a long time to name him," Kerrigan said. "It was like being afraid to get attached," she added.Kerrigan dedicated her ballroom dance on Monday to her three children with the message, "Never give up...Keep trying.""Life throws some wild curve balls at you and you know, but just, it's ok -- keep moving forward,” she said.
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  • Courtesy Janelle Cavanagh(PHOENIX) — A team of Easter “fairies” will be out in force in Arizona on Easter eve to “egg” houses for a good cause.The fundraiser is organized by Summer Roger and Janelle Cavanagh, two moms who met at Phoenix Children’s Hospital as their newborn babies were recovering from heart surgeries.Roger's daughter, June Roger, 5 months, and Cavanagh’s son, Killian Cavanagh, 7 months, were both born with congenital heart defects.June, whose twin sister, Nora, was born without heart complications, underwent her first heart surgery two weeks after birth and was hospitalized for the first 41 days of her life. She is scheduled to undergo a second heart surgery on April 26 to help repair hypoplastic right heart syndrome, a rare heart defect, according to the National Institutes of Health.Killian has already undergone two surgeries to repair his aortic valve and is scheduled to undergo a third, more complicated procedure next month in Stanford, California, according to his mom."The most dreadful thing is when you're waiting and waiting," Cavanagh said of the expected multi-hour procedure. "If it doesn’t go well, he would have to possibly have a lung transplant because of the location of where the surgery is being done."With the two surgeries on the horizon, Roger and Cavanagh, who stayed in touch in what they call the “heart moms club,” decided to execute a fundraiser idea to help other busy moms prepare for Easter.The two moms, who have 10 children between them, are compiling Easter baskets that will be filled with plastic eggs stuffed with treats. Easter “fairies” — the women’s families, friends and volunteers — will then deliver the baskets to people’s homes late on Easter eve so the eggs are outside people's doors on Easter morning.Roger and Cavanagh sold packages of $25 for 40 eggs, $50 for 100 eggs and $100 for 200 eggs and $5 special golden eggs with bigger treats inside.“We’ll scatter the eggs in the front yard or we can put them in a basket by the front door,” Cavanagh told ABC News. “I’m getting big bags of mini-carrots too and will leave a trail on the walkway.”So far the women have taken orders for around 4,000 eggs to be delivered to nearly 100 homes.“We’ve gotten such a positive response that it renews your sense of hope,” said Roger. “I thought I was going to get like five houses and drive around myself in my minivan.”The two families, who live about one hour apart, plan to use the money they each raise to help defray the medical costs that come with having babies born with congenital heart defects.They’ll also use the extra funds to pay for travel to and from the hospital during their babies’ expected weeks-long stays, particularly Cavanagh who will have to travel out of state.“As stressful as this week is I know it will decrease my stress when I’m there because this will help cover a hotel room, parking at the hospital, flights for my husband,” she said. “I can focus on Killian and not worry about how is this going to get paid or how are we going to handle that.”Copyright © 2017, ABC Radio. All rights reserved.
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