Classifying Brown-Vialetto-Van Laere syndrome (BVVL), also known as Riboflavin Transporter Deficiency (RTD), as a rare disease in an understatement. There have only been about 100 cases ever diagnosed. That means…
Denise West and Donna Crouch have much in common. It’s no surprise that they’ve become friends and grown to support one another. Perhaps what they have most common in common…
Kendall and Ava are not related by blood. They do, however, have one amazing thing in common- something that saved their lives and defeated autoimmune hepatitis. Keep reading, or follow…
Ellie the stuffed Emesis Elephant recently did what most human beings could only dream of. She flew. To be clear she went skydiving to raise awareness for cyclic vomiting syndrome…
Ten days after the birth of her second baby, Pam Moore discovered she was unable to move her face. She was quickly diagnosed with Bell’s palsy. The sudden change shocked…
David Baldwin is a 37 year old man from Ross-shire. Based on appearances, he should be living a normal, healthy life. Appearances can, however, be deceiving. David suffers from Cerebrospinal…
Many young children admire professional athletes. They dream of becoming one themselves, or at the very least aspire to meet them. For Jase Johnson, a child with Chiari malformation, this…
1. Rare Neuromuscular Disease Primary periodic paralysis (PPP) is group of rare neuromuscular diseases characterized by disrupted communication between nerves cells and skeletal muscles. PPP is a result of failures…
Technology is hurting us. That's the claim made many times over the years. Smart phones may not have as many risks as some fear, but they can be a significant…
Most people view Christmas as a time for celebrating. Spending time with family, and getting out to festive events and parties can be cornerstones of the holiday. For children like…
Austin Brown was diagnosed with Wiskott-Aldrich syndrome at three months of age. An uncommon blood disease, Wiskott-Aldrich syndrome results in a weakened immune system. Thanks to a stem-cell bone marrow…
Neuropsychiatric disorders can be some of the most challenging conditions to understand. Mechanically, socially, and biologically, it is often difficult to make sense of their innermost workings. Recent research, however,…
A new study may lead to new cures and treatments for Marfan syndrome. Researchers at Johns Hopkins have made great progress testing in mice. Follow the original story here. On…
What do Nathaniel, a child with Bardet-Biedl Syndrome and Sylvester Stallone's famous boxing hero have in common? Keep reading below, or follow the original story to find out! Braille reading…
One in 10,000 babies is affected by CHARGE Syndrome. Anabelle is one of them. According to doctors, Anabelle should be deaf and blind. She should need to be fed through…
Birthday’s are important milestones for parents. First birthdays especially. For children with Costello syndrome, however, celebrating doesn’t always come naturally. After many difficulties, Joey and his mom finally shared that…
A simple facebook post has led to a life changing event for a young boy with CLOVES Syndrome. Keep reading to find out how, or follow the original story here.…
A new gene therapy treatment may be on the horizon for Oculopharyngeal Muscular Dystrophy patients. Find out more below, or keep up with the original story at musculardystrophynews.com. Oculopharyngeal Muscular…
Our gut bacteria may be responsible for antiphospholipid syndrome (APS). What do you need to know about the ordinary gut bacteria known as commensals, and APS? Keep reading, or view…
Allan-Herndon-Dudley Syndrome can be incredibly tricky to treat, due to the blood brain barrier. New research may change the equation and eventually lead to treatment. Read the original story at Science…
Cielo Honasan has Beckwith-Widemann Syndrome and is an amazing athlete. She's been running since she was little. She never let her disability slow her down. Read on to learn more…
The exact causes of avascular necrosis are often a mystery. Much the same as the lives of dinosaurs. That's right. Dinosaurs. Keep reading to learn more about this unlikely connection,…
Disease and community are both powerful things. When AAG, a rare disease affected Erika's life, her community fought back with her. Find out how below, and follow the full story…
As originally reported by WCSH6 Portland, Kate Woodside has become an internet inspiration to other kids affected by Alagille Syndrome. It’s common these days to hear complaints about kids spending…
With original findings reported in Nature Communications, a newly tested compound, RU.521, may provide the key to understanding and combating autoimmune conditions such as Aicardi-Goutieres Syndrome, and Lupus. Cyclic GMP-AMP…
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