rare disorders

7 Stories

Her Doctors Couldn't Solve Her Health Mystery. Facebook Did

Tess Bigelow has incredibly rare USP7 mutation

(Newser) - Social media has helped solve the mystery of a young girl's health problems when her doctors couldn't. Bo Bigelow says his 6-year-old daughter, Tess, is non-verbal, has the mental capacity of an 18-month-old, and suffers gastrointestinal issues, periodic seizures, vision problems, and hip dysplasia—yet multiple tests failed... More »

Rare Disorder Keeps Woman From Swallowing

Samantha Anderson initially told it was stress

(Newser) - Samantha Anderson figured she had a work-packed weekend ahead when something happened at breakfast: The then-39-year-old couldn't swallow a single bite. "I went to swallow and I couldn’t," says the Australian jewelry maker. "It didn’t happen. I choked." The mother of three dismissed... 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 »

'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 »

Baby Born With Half a Heart

Aiden Rodgers diagnosed with rare condition when mom was 20 weeks pregnant

(Newser) - "January 8, 2014, is a day I'll never forget," writes Jenny Rodgers on the Texas Children's Hospital blog. That was the day that she and her husband, Philip, found out that their unborn son, Aiden, had only half a heart—a rare condition known as hypoplastic... 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 »

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 »

7 Stories