Until recently, the term ROHHAD meant nothing to me. But, then, I heard about an 11-year-old Canadian child named Denika Bailey who has this rare disorder. The letters stand for:…
The United States government has certain diseases that they recommend newborn babies to be checked for and currently, spinal muscular atrophy (SMA) isn't on the list. But--great news!--spinal muscular atrophy is…
Hemiplegia normally occurs during pregnancy, or very quickly after birth. Parents are lucky to get a few moments with their child before this condition changes all of their lives forever.…
I'm sure you've heard about ALS after the "Ice Bucket Challenge" swept the nation in 2014, but few still probably took the time to research and learn more about the…
Want some more news, events and announcements on Fabry disease? We got 'em! [one_half] [/one_half] [one_half_last] This Fabry Disease Treatment Has Had a Rocky Journey Regulatory Pathway Announced…
Imagine sitting down at the table. You put a normal amount of food on your plate and you begin to eat. Then, you take a second helping of everything and…
Orkambi (ivacaftor/lumacaftor) is the second precision medicine to be licensed for use in the UK by people with cystic fibrosis. The catch? It is not currently provided by the National…
Welcome to Friday Patient Worthians! This week we have stories on cystinosis and super moms with sickle cell! Additionally, we have a patient story on dystonia and an upcoming event. Lastly, an…
People with Addison's disease often appear just fine on the outside, but on the inside, it's another story. Why? Just above the kidneys are two hormone-producing glands called the adrenal…
New information about rare diseases is always being discovered. As new symptoms are documented from patients and new research is developed, there’s a good amount of data that needs to…
When you hear your newborn's been diagnosed with a rare disease, you may feel like you have to become a scientist in order to raise them. Parenting a child without…
Were you into science at school? It’s funny, I never was, but I discovered a consuming interest in all facets of scientific discovery as an adult. Maybe I wasn’t encouraged…
Young adults with spinal muscular atrophy (SMA) have the same interests as those without SMA. You may want to go to college and pursue you dreams. Or you do you…
Want some more news, events and announcements on HAE? We got 'em! [one_half] [/one_half] [one_half_last] Get the Most Updated HAE Treatment Information Treatments Are Available: What Now? New,…
Von Willebrand disease (VWD) is a rare disease that affects up to 1% of the population in the United States. It occurs when the blood is missing an essential protein…
Paige Hildring is nine years old. She’s one of 108 people in the entire world with PURA Syndrome. PURA Syndrome is a neurodevelopmental disorder and those who suffer from it…
Chudley-Rozdilsky-Houston Syndrome (named for the researchers who have studied the syndrome) is thought to be an autosomal recessive trait that causes multiple diseases, including developmental delays. Among the maladies of…
Short bowel syndrome, which is also called short gut, occurs as a result of someone having at least half of their small intestine removed, and sometimes the removal of a portion of…
For those of us who aren't familiar with Tardive dyskinesia, here's a little background: Tardive dyskinesia is actually something like a severe, often long-lasting side effect to drugs that treat…
It all started when Romy felt that her health was growing worse after having back surgery. She believed that something was wrong, but her doctors assure her the surgery was successful.…
Joe Beernink has a blog describing his experience with Guillain-Barré Syndrome (GBS). More than three years ago, he wrote about his recovery and his healing process. He was told that the recovery…
Researchers have reported an early victory in treating sickle cell anemia with a new gene therapy. This could possibly lead to a cure. According to the U.S. National Heart, Lung, and…
In the past, spinal muscular atrophy (SMA) has typically been considered a fatal disease. But there is new hope for children with the genetic disease. In Ohio, a baby with…
When you have an immunodeficiency disease, you’re very much at risk of getting an opportunistic infection because your immune system isn’t “scanning” your body’s cells to kill off abnormal or…
Jim and Kristen Farrell have two children, Braeden and Kernan, both of whom have a progressive muscle-wasting disorder called spinal muscular atrophy (SMA). The disorder can take away a child’s…
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