rare genetic disorder

15 Stories

Utah Parents Bury 3 Kids, Lost to Same Disease, on Same Day

Juvenile Batten disease is a cruel disorder, as the Chappells have learned

(Newser) - As far as diseases go, Juvenile Batten disease is a particularly cruel one: Vision issues and seizures typically emerge before a child is 10; blindness, dementia, and an inability to move can follow; death often comes within a decade. Crueler still, while the disorder is highly rare it's also... More »

A Doctor's Visit, a Shocking Find: She Had No Vagina

Kaylee Moats is fundraising for a surgical remedy for genetic disorder

(Newser) - Us Weekly is reporting on the fundraising efforts of an Arizona woman "raising money so she can have sex," though it's more complex than the headline might imply. That woman is 22-year-old Kaylee Moats, who tells Barcroft TV that when she was 18, her 12-year-old sister... More »

Michigan Couple Learn Baby Boy Has Charlie Gard's Disease

It's the kind of disease three-parent IVF could prevent

(Newser) - Mitochondrial diseases afflict an estimated one in 4,000 people , most notably in the recent high-profile case of Charlie Gard in the UK, whose parents unsuccessfully sought to transport him to the US for experimental treatment. The fault lies in mitochondrial DNA, which is inherited from mothers and is responsible... 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 »

Parents Desperately Trying to Raise $750K for Sick Son

Only a few children in the US have Niemann-Pick Type A, and all die young

(Newser) - Just weeks ago, a Boston couple learned their now-13-month-old son has an extremely rare and currently untreatable genetic disease called Niemann-Pick Type A, more colloquially known as "Baby Alzheimer's." In short, the boy suffers from a lethal mutation of a gene that prevents his body from processing... 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 »

Mom's Insight May Lead to Heart Disease Treatment

Compound used to treat kids' rare disorder unclogs arteries, too

(Newser) - The unlikely use of a compound in powdered booze could ultimately help save millions of people from heart disease—and it was the mother of twin girls with a rare genetic disorder who first pitched the idea to scientists. The compound is called beta-cyclodextrin, which is already approved by the... 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 »

'Tree Man' to Have Bark-Like Warts Removed

The growths weigh more than 11 pounds

(Newser) - A father and former bicycle puller is gearing up for major surgery at the Dhaka Medical College Hospital in Bangladesh to remove more than 11 pounds of bark-like warts on his hands and feet that have earned him the nickname "tree man." The 26-year-old tells AFP he has... 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 »

Why Girls in This Town Become Boys at Puberty

This rare disorder was discovered in the 1970s

(Newser) - Girls born in a particular village in the Dominican Republic may not grow up as biological females after all. A little more than 1% of them will develop a penis at age 12, making them what locals call "guevedoces"—literally, a "penis at 12," the Telegraph... 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 »

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 »

Hope for 'Butterfly' Kids Thanks to New Treatment

Their rare genetic disorder can cause severe blistering all over the body

(Newser) - When Elisa McCann was born 18 months ago, her parents knew something was wrong. Their third child had blisters everywhere on her body within her first day of life, and doctors quickly diagnosed a rare genetic disorder called epidermolysis bullosa (EB), reports Today . In kids with the condition, who are... More »

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