Before you read on, don't forget to check out Part 1 of our interview. In Part 1, Alex discusses the multi-year diagnostic odyssey to discover that Raymond has VAMP2. Today, we talk…
In the United States, rare diseases are defined as those affecting fewer than 200,000 people. In the cases of ultra-rare conditions, there is often even less research, less resources, and…
As our understanding of genetics continues to grow, new gene variants are being identified and linked to the development of various diseases. According to Medical XPress, a research team from…
Before you read on, don't forget to check out Part 1 of our interview. In Part 1, Wendy discusses what hypertrophic cardiomyopathy (HCM) is, her rare variant, the diagnostic journey, and her…
Wendy Borsari is not just a patient living with hypertrophic cardiomyopathy (HCM); she is also a mother, a fierce advocate, and part of the patient advocacy team at Tenaya Therapeutics,…
Editor's Note: Chronic conditions and rare diseases don't discriminate, Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have…
Unfortunately, life has not always been kind to Zahid Bashir and Sobia Qureshi. The couple lost two children to Pompe disease, a rare genetic disease caused by GAA gene mutations.…
Before you read on, make sure to check out Part 1 of our interview where we discuss what SLC6A1 is and Aubrey's diagnostic journey. Today, we'll be discussing what it's like to…
When Erika Vandenberg learned that her daughter Aubrey had a rare genetic disorder called SLC6A1, her first two reactions were fear and relief. Relief because they finally had a name…
Scientists affiliated with Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia recently identified a novel mitochondrial disorder in a pair of identical twins. Doctors began studying these twins when…
Unfortunately, there are no cures - nor effective treatment options - for individuals with P-subtype small cell lung cancer (SCLC). This subtype is notoriously treatment-averse; it is also relatively…
Currently, treatment options for Williams syndrome are considered symptomatic; they treat symptoms of the condition, but not the underlying cause. There are no treatments or cures addressing the underlying genetic…
“Together, we can do hard things.” That’s the mission of Clara Inspired, a nonprofit organization that aims to raise awareness and funds to cure genetic disorders like STXBP1 disorders. It’s…
If you haven't already, don't forget to go and read Part 1 of our interview. In Part 1, David Ogman and I discuss his son Jordan's TECPR2 diagnosis, the diagnostic journey,…
There seems to be no limits when it comes to what a parent will do for their child. And when it came down to it, David and Stacey Ogman knew…
Missense mutations cause Angelman syndrome in around 5% of diagnoses. However, researchers have often been unclear or unsure of the biochemical consequences of these missense mutations on the affected…
The incidence of nonalcoholic fatty liver disease (NAFLD) has been rapidly rising worldwide, with many healthcare providers expressing concern. Because of this rapid growth – and simultaneous problems with underdiagnosis…
Zach and Geri Landman are devoted parents and physicians – a pain specialist and pediatrician, respectively – committed to making the world a better place for those around them. They…
At the end of July 2022, biotechnology company Biogen Inc. shared via news release some exciting updates in regards to its therapy tofersen, an investigational treatment for patients with…
When Ryker Colón was first born, his parents Eddie and Brandi noticed something potentially concerning. Their young son had a chronic cough - and nobody could seem to figure out…
In the past, there have been a variety of research studies exploring and working to learn more about cystinuria, a rare genetic condition causing cystine, an amino acid, to accumulate…
The main symptom of Kleine-Levin syndrome – excessive sleepiness (hypersomnolence) – is also a key characteristic of many other sleep disorders, such as narcolepsy. Additionally, there are currently no observed…
According to a recent article, investigators have proposed a checklist that will aid in determining the strength of potential gene-disease relationships for rare disease. The Need It has already…
Currently, no approved therapies exist for ADNP syndrome, a rare genetic neurodevelopmental disorder. But a group of researchers from the UC Davis MIND Institute are working to change that. According…
When Sam Anderson was thirteen years old, he was diagnosed with familial adenomatous polyposis (FAP), a rare inherited disorder. As he grappled with his diagnosis and symptoms, Sam also…
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