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…
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…
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…
A new way of looking at an old idea--sometimes it’s all you need for innovation. A change in perspective can have such a big effect on a study’s progress, especially…
The HCU Network of America is not only trying to spread awareness and encourage research for homocystinuria, they were founded to serve as a resource for those currently living with…
In support of Dravet syndrome, Annabel Hughes and her son Henry, will be climbing Ben Nevis on June 17—Britain’s tallest mountain. The Hughes family has been directly affected by this…
A year after 4-year-old Lyla was diagnosed with microscopic polyangiitis (MPA) in 2015, the disease became so advanced that she was placed on dialysis for 12 hours a day. Her…
Pregnancy complications can arise no matter how healthy the expectant mother is or how careful she's been to protect her precious bundle of joy. Certain complications are minor—while others pose…
When you have a bleeding disorder, you have to be careful doing everyday tasks. It changes your normal routine. It changes your life. For Malaika, her diagnosis of hypoprothrombinemia took…
Want some more news, events and announcements on Narcolepsy? We got 'em! [one_half] [/one_half] [one_half_last] A Narcolepsy Miracle Drug? First Patient In Phase 3 Study Evaluating Treatment for…
Have you ever heard of “ex vivo” gene therapy? If you haven't, it means removing some cells, modifying them, and putting them back in. The goal? Curing the diseases that…
The Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders Association was established in 1996 to serve and support all those affected by PKAN, PLAN, MPAN, BPAN, and CoPAN. Of these, PKAN or…
Bronchopulmonary dysplasia, or BPD, is a chronic lung disease that most commonly occurs in premature infants and is caused by a reaction to being on mechanical ventilation, or from being on…
I think most people experience eye problems at one point or another. Maybe your child came home with "pink eye," and before long, everyone in the household had itchy, burning…
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