Cystic Fibrosis Awareness Month: Foundation raises money to help those with rare disease Laura Bonnell founded the Bonnell Foundation in 2010 to help families living with cystic fibrosis. Both of her daughters have the rare genetic disease. DETROIT (FOX 2) – Laura Bonnell founded the Bonnell Foundation in 2010 to […]
Rare
Families Unite to List a Rare Disease in China’s Official Catalog
Yang Jun has lost his hearing and is nearly blind. His younger brother Yang Chao is also losing his hearing and speech. The two brothers from the southwestern Sichuan province live with a little-known disease called neurofibromatosis that is commonly abbreviated as NF — a set of genetic disorders that […]
7’s HERO: Meridian boy with rare degenerative disease inspires
13-year-old Killian McCarty has a rare form of leukodystrophy. He’s a constant inspiration to his mom, who is raising awareness to find a treatment and cure. MERIDIAN, Idaho — When Killian McCarty was born thirteen years ago, his parents were elated. He was their first child, and all signs pointed […]
The Denise D’Ascenzo Foundation gears up for Walk to Cure Rare Diseases
/cloudfront-us-east-1.images.arcpublishing.com/gray/ZT3SUSIKIZG6ZLRVX7C5F3XY7I.png)
HAMDEN, CT (WFSB) – The Denise D’Ascenzo Foundation continues to support causes near and dear to the late Channel 3 anchor’s heart. The foundation is hosting The Denise D’Ascenzo Walk to Cure Rare Diseases on April 30 at 10 a.m. in Hamden. The 2 mile walk is happening at Quinnipiac […]
CDC issues health alert on rare cases of hepatitis in children
The Centers for Disease Control and Prevention are continuing to investigate unexplained positive cases of hepatitis and adenovirus infection in children. The CDC issued a nationwide health alert Thursday asking parents and providers to keep a lookout for symptoms and report any potential hepatitis cases without cause to local and […]
In India, Parents of Children with Rare Disease Plea for Help Online
ELURU, India — When her baby started struggling to breathe, Stella Praveen had a terrible feeling that something was gravely wrong with her 14-month-old daughter, Ellen. She ran barefoot to a nearby clinic, but the doctors there said the child needed to see a specialist right away. Without an ambulance, […]
What is Lichen Sclerosus? One woman’s rare disease journey
One in 10 Americans has a rare disease. The majority are children. GREENSBORO, N.C. — More than 300 million people in the world live with a rare disease. More than 70% of rare diseases are genetic, and they may start in childhood. So, early diagnosis is crucial. There are about […]
Rare Disease Day 2022: how can we improve research in rare diseases?
© picture-waterfall / stock.adobe.com Huntington’s disease (HD) is an inherited neurodegenerative disorder where a person who has the causative gene experiences gradually worsening problems with movement, thinking and behavior, with symptoms first showing usually in mid-life. This is caused by the production of a mutant protein which leads to the […]
Kansas City boy, Charlie Fry, enters drug trial for rare disease
There is renewed hope for a Kansas City boy facing a rare disease. KMBC 9 has been following Charlie Fry’s story for more than two years now. His mother explains how a drug trial is bringing promising results as his family fights to fund a cure.”It was the most exciting […]
With CRISPR gene editing, unique treatments begin to take off for rare diseases
But two years later, when Doherty’s father died of a sudden heart attack, the true cause was discovered: a rare disease called transthyretin (ATTR) amyloidosis, characterized by a misfolded protein that builds up in the heart and interferes with normal function. Story continues below advertisement “Patients left untreated with this […]
Talking rare diseases with the U of M
Recently, the National Organization for Rare Disorders (NORD) named M Health Fairview Masonic Children’s Hospital one of its initial cohort of institutions designated as Rare Disease Centers of Excellence. Each Center for Excellence was selected by NORD in a competitive application process requiring evidence of experience and expertise across multiple […]
‘No cure’: Toronto family of toddler battling rare, new disease raises funds for research
In the backyard of their Toronto home, on a blustery December afternoon, parents Julia Sisnett and Cameron Kilner push their 19-month-old daughter on a colourful swing. Maddie’s hair is blowing in the wind and she is smiling as her mother and father cheer her on enthusiastically. The toddler does […]