Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.
Scientists in Armenia are partnering with their scientific counterparts at the University of California in Los Angeles to map the genome of the Armenian people. This is an important step…
What happens if your adrenal glands produce too little cortisol, and perhaps an insufficient level of aldosterone, as well? Addison's disease is the end result and it can be life-threatening.…
When Stephen was growing up, he had no idea he'd one day be diagnosed with Common Variable Immunodeficiency (CVID). As a kid, he had a lot of trouble with ear and sinus problems.…
If you are one in 1.3 million people, you might be born with a mutation in your CPS1 gene, causing you to have carbamoyl phosphate synthetase 1 deficiency or CPS1D.…
Two years ago, my phone rang in the middle of the night and our journey with heterozygous familial hypercholesterolemia, or HeFH, began. My immediate thought was I'd won the Publisher's Clearinghouse Sweepstakes…
Schnitzler syndrome was initially identified in the 1970s. Patients usually have fever, bone and joint pain, fatigue, anemia, enlarged liver and spleen, and a strange rash. The rash is resistant to…
When I first heard the term "mycosis fungoides," I immediately thought it was a condition related to some type of fungal infection. Boy, was I wrong! It's actually a slow…
In 1980, Dewayne Rettig, then 22, was proudly serving his country in the US Air Force. Stationed in Germany, he had no idea his life was going to change forever. One night,…
Maroteaux-Lamy Syndrome, also known as mucopolysaccharidosis (MPSVI), is a lysosomal storage disorder. It's one of a number of disorders that affects specific enzymes in specific locations. The job of these…
If you have dopamine beta hydroxylase deficiency (DBHD), you're part of a very exclusive club, one that you probably would have passed on if you'd had the chance. With this…
Dysautonomia is an umbrella term for a number of disorders of the autonomic nervous system (ANS). But to understand the collection of conditions called "dysautonomia," first we have to understand…
As a self-described science nerd, I always feel a thrill when I read about a new drug reaching Phase 3 of a clinical trial. At that point, chances are very…
Being a caregiver is among the most important jobs a person can take on, but it comes with its own set of perils: isolation depression sleep deprivation So, if you…
Myasthenia gravis (MG) is a neuromuscular condition that causes weakening of the body's skeletal muscles. It's a rare disorder and there is no cure at this time, but research continues and…
Kallmann syndrome is a genetic condition caused by hypogonadotropic hypogonadism (HH), of which four separate types have been identified. People with Kallmann syndrome experience olfactory deficiencies, and puberty that is either…
Sjögren’s syndrome is an autoimmune disease that affects the moisture-producing glands in the body, including the salivary and tear glands. Very often, it's accompanied by rheumatoid arthritis. It's thought to…
People with Laron syndrome, an autosomal recessive disorder, have mutations or deletions of the GHR gene which results in a type of dwarfism. It is most commonly seen South America, in Mediterranean countries,…
Aplastic anemia is both a bone and a blood disease. A person with this condition has bone marrow that no longer makes red blood cells, white blood cells, or platelets.…
It's not a happy story. Little Riley Brown beat the odds and celebrated his first birthday last April. Two months later, he passed away from the rare congenital disorder called…
On February 7, 2016, an elderly man died in the foothills of the San Gabriel Mountains. Okay, but why is that remarkable? After all, elderly men and women pass away…
Familial cold autoinflammatory syndrome (FCAS) is an extremely rare disorder. It's characterized by episodes of joint pain, fever, and other symptoms of inflammation. All of these symptoms are triggered by…
Dr. Paul Raffer was a neurologist who practiced medicine until he got sick with mycosis fungoides. His symptoms began on his skin, and after consulting with a colleague, he was immediately…
What if you had an inherited disorder that caused a fat called globotriaosylceramide to build up in your cells? Chances are pretty good that you'd be diagnosed with Fabry disease,…
Epidermolysis Bullosa, or EB, is a connective tissue disorder that approximately 200 babies are born with each year. The most serious symptom is the extreme fragility of skin. People with EB suffer…
Remember that questionable-looking salad you ate in a not-exactly-pristine restaurant? You've been trying to forget the server's blackened fingernails and sweaty brow, and as you double over from abdominal pain, you…
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