rare diseases

19 Stories

Few Kids Fully Recover From Rare Disease On the Rise

50 cases of AFM confirmed in US in 2016

(Newser) - At first, it seemed like 4-year-old Laura Carson was suffering from a simple headache. Then came rapid shallow breathing, a tremor, double vision. Within days in August 2014, she was "a limp rag doll," reports Today —but it took doctors some time to diagnose her with acute... 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 »

Family's 4 Kids Mysteriously Losing Ability to Walk

Doctors still can't pinpoint exactly what their condition is

(Newser) - Having one child with a rare muscular disease would buck the odds; having four kids affected by it is downright astonishing. That's the plight of 23-year-old Rivka, 22-year-old Tziporah, 18-year-old Tzvi, and 15-year-old Racheli Herzfeld, four siblings from Teaneck, NJ, who are fighting what Fox News calls a "... More »

Woman With Super-Rare TB Traveled to 3 States

Officials trying to find 'hundreds of people' who may have been in contact with her

(Newser) - CDC officials say a woman with an extremely rare form of tuberculosis came to the US from India and traveled to three different states before being diagnosed with an active case of the disease. Now she's isolated at a National Institutes for Health clinic in Maryland, and authorities are... More »

'100-Year-Old Teen' Dies at 17

Hayley Okines suffered from rare disease, aged 8 times faster than normal

(Newser) - "Sometimes people ask me if I could have three wishes, would I wish I didn't have progeria? And I say no." So said UK teen Hayley Okines in her 2012 autobiography Old Before My Time , telling readers her life with the rare premature-aging disease was "full... 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 »

Baby With Rare Disease Can't Be Touched by Mother

2-month-old Kiira Kinkle's skin blisters at the touch

(Newser) - Two-month-old Kiira Kinkle's little fingers and toes are bandaged every day. Her mother can't touch her skin. And every night, her sisters pray her "owies" will go away. Kiira has the severest form of a rare disease called recessive dystrophic epidermolysis bullosa (RDEB), which makes her skin... More »

Mystery Illness, Strokes Ravage 4-Year-Old Boy

The treatments for a rare autoimmune disorder aren't working

(Newser) - Four months ago, Long Island boy Adam Lefkowitz was a healthy, happy kid who liked to play on monkey bars and climb trees with his friends. More than 15 strokes later, the 4-year-old is barely recognizable to his parents. Diagnosed with a rare autoimmune disorder called primary central nervous system... 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 »

Why 5 Siblings Walk on All Fours and Can't Stand Up

Scientists call into question a 'reverse evolution' theory about the Turkish family

(Newser) - Some people walk on all fours for fun, or for sport, but not for long stretches and certainly not for ease of mobility. Yet five siblings in a family of 19 in Hatay, Turkey, walk not just primarily but only on all fours, and lack the balance to do otherwise.... More »

$43M Quest: Solve Mystery of Rarest Diseases

NIH will pour millions into 6 research centers over 4 years

(Newser) - They're baffling, mysterious, confounding: the rarest of rare diseases, ones that often plague no more than 50 people on the globe. The quest to diagnose them is getting a big boost from the National Institutes of Health, which yesterday announced the creation of a an "Undiagnosed Diseases Network.... More »

Teen Makes Leap in Study of Own Rare Disease

Elana Simon co-authors new study on fibrolamellar hepatocellular carcinoma

(Newser) - At 18, Elana Simon is already the co-author of a study in the renowned journal Science . The subject? Her own rare liver cancer, which she was diagnosed with at age 12. Together with scientists, another survivor of the disease, her surgeon, and her dad, who runs a cellular biophysics lab,... More »

Boy Wants to Help Sick Pal, Out-Raises ... Everyone

Dylan Siegel's best friend has glycogen storage disease

(Newser) - Dylan Siegel is just 7 years old, but he's already raised more money for glycogen storage disease "than all the medical foundations and all the grants combined. Ever," says Dr. David Weinstein, who studies the rare liver disease at the University of Florida. How did Dylan do... More »

'Mermaid Girl' Shiloh Dies at 10

She had a rare condition but lots of supporters around the world

(Newser) - Shiloh Pepin, a young girl in Maine born with a rare condition known as "mermaid syndrome," has died at age 10. Shiloh wasn't supposed to live more than a few days, but "she was a tough little thing," said her mom. Shiloh's legs were fused together... More »

Pharma Under Fire Over Pricey Drugs for Kids

Lawmakers lash astronomical hikes in drugs for rare diseases

(Newser) - In the face of astronomical hikes in the price of drugs used to treat children, a congressional committee is looking into why companies have increased prescription costs as much as 18-fold when related research and marketing expenses are stable, according to lawmakers. One such company charges $69,000 for a... More »

Stem Cells Are Beating Boy's Deadly Disease

Doctors believe treatment may cure skin disorder

(Newser) - A stem cell treatment has apparently cured a 2-year-old boy's rare genetic disease, the Los Angeles Times reports. Nate Liao suffered a disorder that made his skin so fragile, it had to be wrapped in bandages at all times. Now the fatal disease is retreating, and Nate is eating, dressing,... More »

Gates Aims $100M at Polio

Foundation aims to eradicate disease

(Newser) - The world stands at the brink of eradicating polio, Bill Gates says, and his foundation yesterday awarded $100 million toward that end. One of the foundation's largest challenge grants will fund programs in four countries where the disease is still epidemic, notably Nigeria. The Rotary Foundation received the grant and... More »

Rare Disorder May Have Afflicted Lincoln

Syndrome would account for height, sons' deaths, doc says

(Newser) - Abraham Lincoln may have been the first known victim of an exceedingly rare genetic disorder, and the 16th President was probably dying of cancer when he was assassinated, an expert says. The cancer-causing syndrome would account for his height, bumpy lips, and other conditions—but corroborating the theory with DNA... More »

19 Stories