Cold agglutinin disease (CAD) occurs when the body's antibodies destroy their own red blood cells. It is a form of hemolytic anemia, meaning the body can't produce enough blood cells fast…
What if you could prevent all of the world's most fatal genetic diseases? According to Lee D. Cooper, there's a way- we're just not educating people on how to do…
Dermatomyositis (DM) is a disease which causes muscle weakness and rashes on the skin. Immunosuppressive drugs are a common treatment prescribed for the condition. Patients may also be given methotrexate, rituximab,…
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder caused by a mutated PANK2 gene. This mutation disrupts a metabolic pathway, decreasing the body's levels of CoA. CoA, or coenzyme A,…
Smith-Magenis Syndrome (SMS) is caused by a deletion of the 17p 2,3 chromosome. the condition affects 1 in every 15,000-25,000 individuals. It often results in a sleep disorder, and various mental, physical,…
Leukodystrophy is the term used for a group of rare, progressive brain disorders which cause the brain's myelin sheath (the nerves protective covering) to either develop improperly or be destroyed…
Methylmalonic Acidemia (MMA) is a liver condition which affects the body's ability to break down food and fatty acids. A dietary imbalance or minor virus for these patients may spark a metabolic…
Nontuberculous mycobacterial (NTM) lung infection occurs when someone inhales nontuberculous mycobacteria from the environment. There are various types of this bacteria, giving NTM different forms. But in all types of NTM,…
Morgan's story Morgan Gleason is a 20-year-old living with Juvenile Dermatomyositis. It's a rare autoimmune condition causing weak muscles and rashes in addition to other symptoms. As a result of her…
A diagnosis means everything for a rare disease patient. However, to process 200 patient records manually, it would take the most dedicated physician approximately 40 hours. That's one full work…
Immune Thrombocytopenia (ITP) is diagnosed by low platelet counts in the blood. It also causes impaired platelet production. This put patients at risk for serious bleeding as well as spontaneous bruising.…
Tay-Sachs disease and Sandhoff disease (also known as GM2 Gangliosidosis), and GM1 Gangliosidosis are neurodegenerative conditions. They are a result of a defective enzyme. This enzyme causes toxic gangliosides to accumulate within the…
Spinocerebellar Ataxia (SCA) refers to a group of neurodegenerative disorders. Ataxias are a component of the nervous system which control movement. SCA occurs when the ataxias in the brain or spinal…
The Myasthenia Gravis Foundation of America (MGFA) recently conducted a survey which found that most myasthenia gravis patients are not satisfied with their current treatment regime. These patients wanted a therapeutic…
Familial adenomatous polyposis (FAP) is a condition which causes extra tissue to form in various parts of the body such as the large intestine and gastrointestinal track. FAP affects about…
"People always say that 'cancer doesn't discriminate,' but the healthcare system often does," -Liz Margolies, LCSW, Executive Director, National LGBT Cancer Network. Unfortunately, the reality of this statement is that there…
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder which causes intellectual disability, a deficiency of growth hormones, compulsive behavior, a high risk of obesity, and hyperphagia, a symptom which can be…
A new Phase 2 Parkinson's disease trial is now enrolling 42 patients who have lived with the condition four years or more. Ultimately, the trial aims to evaluate a new…
Neurodegenerative disorders affect millions of people across the world. They include Amyotrophic Lateral Sclerosis, Parkinson's disease, Huntington's disease, and Alzheimer's disease, among others. For most neurodegenerative diagnoses, there are no effective treatments, no…
For a long time, we've known that, at least in North America, men develop cancer at higher rates than women. However, there is still some mystery concerning the impact of…
Angelman Syndrome (AS) is a neurogenetic disorder. It's not fatal, but prevents patients' from living independently. It causes neurological impairment, seizures, and balance issues among other problems. It's caused by a…
Charcot-Marie-Tooth disease (CMT), is a rare neurological condition. It's hereditary, and it affects the way nerves communicate with muscles. There are different types of CMT, determined by which genes are…
Angelman syndrome impedes the brain's ability to distinguish background noise from whats important. This is a result of a reduced tonic inhibition, caused by a loss of function of the…
In August, Duke Cancer Center's Patient Support Program had a backlog of 150 wigs. That means 150 cancer patients who didn't have access to an item that, while simple, provides…
Hereditary Angioedemia (HAE) results when the blood is missing the C1-inhibitor protein. It causes unpredictable and sudden attacks of swelling on various parts of the body. It can affect practically…
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