genetic disorders

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Boy Goes Into Cardiac Arrest After Biting Into Hot Dog

Doctors say he has Brugada syndrome

(Newser) - When a 9-year-old boy took a big bite out of a hot dog in Turkey, he didn't choke on it—but he still almost died. That's because, as tests following his resuscitation from cardiac arrest revealed, he has a rare genetic condition known as Brugada syndrome, which impairs... More »

Protein 'Overdose' Contributed to Woman's Untimely Death

The bodybuilder was unaware her body couldn't process that much protein

(Newser) - An Australian woman who appeared to be in great shape suddenly died at age 25—and doctors say protein supplements contributed to her death. Meegan Hefford, a bodybuilder, had been complaining since early June about feeling "weird" and lethargic. On June 19, she was found unconscious in her apartment;... More »

Couple Quit Jobs, Became Scientists to Save Her Life

'You're healthy, and then you're falling off a cliff'

(Newser) - When Sonia Vallabh watched her mother die a horrible death in 2010, caught in limbo between sleep and wakefulness that led to severe dementia, she and her husband, Eric Minikel, wanted answers. The autopsy revealed a harrowing diagnosis: a prion disease called fatal familial insomnia, or FFI, reports the Boston ... More »

Rare Blood Disorder Now Runs in This Adopted Family

Tracy Antonelli found all 3 of her daughters in China

(Newser) - In 2012, Massachusetts resident Tracy Antonelli flew to China to adopt now-7-year-old Emmie. Antonelli had found her on an adoption advocacy site the year before and was shocked to learn the little girl was suffering from thalassemia, a rare genetic blood disorder that Antonelli herself was diagnosed with at the... More »

This Toddler Is Fighting 'Childhood Alzheimer's'

Marian, who is 18 months old, suffers from fatal Niemann Pick Type C disorder

(Newser) - One family has just gotten the kind of news every parent dreads, reports the Stir : Their 18-month-old daughter has an extremely rare, incurable, and fatal genetic disorder called Niemann Pick Type C, which is often referred to as childhood Alzheimer's. But there's a new drug currently in clinical... More »

'Genius' Sperm Donor, Who's Schizophrenic, Turns Self In

Christian Aggeles, who looked good on paper, has fathered more than 36 children worldwide

(Newser) - How often are sperm donors vetted, and how often do they get away with enhancing their positive traits? It's a question at the heart of ongoing lawsuits involving James Christian (Chris) Aggeles, who donated his sperm to Georgia-based Xytex Corp. years ago and fathered 36 children between 2000 and... More »

Severe Birth Defects Don't Mean Death Sentence

Canadian study suggests birth defects aren't as lethal as doctors previously advised

(Newser) - Parents of newborns with rare genetic conditions used to hear that severe birth defects were "incompatible with life." Support groups and social media showing the exceptions have changed the landscape—and so has mounting research suggesting not all such babies will die, the AP reports. The latest study... More »

Ray of Hope in Drug to Treat 'Childhood Alzheimer's'

Niemann-Pick Disease Type C prevents the body from processing cholesterol properly

(Newser) - Not long before her 10th birthday, Hayley Koujaian began to have seizures. They weren't the first sign that something was amiss—for three years she was put in a variety of learning environments and programs but her cognition seemed to be slowly declining instead of progressing. Finally, after a... More »

Family Sues After Boy Is Expelled Over His DNA

A trial could help establish exactly who can access one's genetic information

(Newser) - When Colman Chadam was born in 2000, he underwent extra medical tests after a congenital heart issue was discovered. Doctors learned that the infant carried genetic markers associated with cystic fibrosis, but he never went on to develop the disease. In fact, that test was the boy's only interaction... More »

Rare Disorder Requires Toddler to Eat Every Hour

Owen Torti was diagnosed with metabolic disorder LCHAD as a newborn

(Newser) - To all the new parents struggling to feed their newborn every two to three hours, imagine having to do it every hour—for years. Such is reality for the Torti family in Tennessee, whose son, Owen, now 23 months, was diagnosed with the rare metabolic disorder LCHAD (long-chain 3-hydroxyacyl-coenzyme A... More »

Parents Losing Both Sons to Rare Brain Disease

There's no cure for Batten disease, and it's fatal

(Newser) - Batten disease, a rare and fatal genetic brain disease marked by blindness, seizures, dementia, and loss of motor skills, gained attention earlier this year when Hollywood producer Gordon Gray and his wife Kristen learned that both their young daughters have it, reported Deadline in June. Now another California couple, Bekah... More »

Singer Shares Story of 6-Day-Old Daughter's Death

Rumer Rain died of nonketotic hyperglycinemia June 9

(Newser) - Country singer Randy Rogers says the birth of his daughter Rumer Rain was an incredible moment. "We thought we had a healthy baby. We shared the news with friends and even posted a picture on social media," he tells People . Never did he imagine that their newborn would... More »

Rare Disease Could Turn Boy Into 'Mannequin'

Jarvis Budd is one of 13 Australians to suffer from the rare disease

(Newser) - Three-year-old Jarvis Budd is one of just 13 people in Australia to suffer from a rare disease called fibrodysplasia ossificans progressiva, or "human mannequin disease." This means that with every minor fall or injury, he runs the risk of his joints seizing and triggering "abnormal bone growth,... More »

Why This Family Is 150 Days Into Quarantine

Daughter has a rare disorder exacerbated by even minor illnesses

(Newser) - Talk these days of quarantines revolves around Ebola, but one South Carolina family has voluntarily blocked themselves off from the outside world—not to protect others, but to protect their 4-year-old daughter, Eliza, who suffers from the most severe form of a rare genetic disorder called Sanfilippo syndrome . The metabolic... More »

Man With Disorder Sues Shaq for Mocking His Selfie

Jahmel Binion: NBA star made fun of me on social media

(Newser) - A Michigan man with a rare genetic disorder is seeking more than $25,000 in damages from Shaquille O'Neal, NBA player Trey Burke, and rapper Waka Flocka for making fun of his pic on social media, reports the Detroit Free Press . Jahmel Binion has ectodermal dysplasia, a condition that... More »

Mystery Disease Strikes Just One Family on the Planet

Joselin, Hilary Linder determined to wipe out strange genetic ailment

(Newser) - In the late 1980s, William Linder, a healthy 40-year-old doctor, came home from a vacation fatigued and with swollen legs. By 1996, he was dead, with the cause officially listed as "unknown." The years in between were full of gruesome symptoms: Swelling squeezed some of his veins so... More »

Woman With Rare Condition Is First in US to Give Birth

Stephanie Turner, 21, has Harlequin Ichthyosis

(Newser) - Stephanie Turner was not expected to live past infancy. But she did, and at 21, she's the second oldest US citizen with Harlequin Ichthyosis, a rare genetic condition that left her without a top layer of skin, any hair, or the ability to sweat. Three months ago, the Arkansas... More »

'Bucket List' Baby Dies

5-month old Avery Canahuati had genetic disease

(Newser) - A baby whose "bucket list" blog was read by millions of people around the world has died at the age of just 5 months. Avery Canahuati's parents created the blog after learning their daughter had the incurable genetic disease spinal muscular atrophy and was not expected to survive... More »

Santorum Daughter Hospitalized

Candidate cancels campaign events to be with disabled daughter Isabella

(Newser) - Rick Santorum's 3-year-old daughter, Isabella, who suffers from the genetic condition Trisomy 18 , was hospitalized yesterday, causing Santorum to cancel his campaign events this morning to travel to Philadelphia and be by her side, reports the Philadelphia Inquirer . Half of babies with Trisomy 18, a chromosomal defect, are stillborn,... More »

New DNA Test Reveals Children Born of Incest

...and it does so without needing mom or dad's DNA

(Newser) - Suspect your parents may have been related? Well, now you can find out behind their back, thanks to new advances in DNA testing, USA Today reports. In a study published yesterday, doctors revealed that they can now determine if a child is born of incest without testing the DNA of... More »

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