As originally reported by the Oklahoma Medical Research Foundation; Tonja Martin was running through her retirement savings for her medical care. She spent $3,400 every month to cover treatment for…
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According to a recent article in Euronews, this year one hundred children who were diagnosed with spinal muscular atrophy (SMA) will receive Zolgensma, the world’s highest-priced drug, at no cost.…
TrialJectory is an organization working to match bladder, breast, colorectal, melanoma, myelodysplastic syndromes (MDS), and other cancer patients with the clinical trial that is right for them. They have successfully raised…
GlaxoSmithKline (GSK) has recently completed and released the results of Phase 3 of its study of benlysta. This drug is made for the treatment of lupus nephritis. Their BLISS-LN…
Who is most affected when we talk about creating solutions for rare diseases? Those who live with them and their families. Patient communities know what they need and feel the…
Savara Pharmaceuticals has recently interviewed Dr. Tisha Wang, who is a pulmonologist and critical care physician at UCLA. Dr. Wang is also an advocate for autoimmune pulmonary alveolar proteinosis…
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According to recent articles in Runner’s World Magazine, having a diagnosis of multiple sclerosis has not stopped Cheryl Hile, Jennifer Lee or Melissa Ossanna. Each woman is fighting the symptoms…
This is NSGC 2019 Conference Highlights Part 2, click here for part 1. An early morning session on the final day of the conference featured a personal story shared by…
Written by: Paul Pavao The most important thing I can tell you is that Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) can be survived. As of 2019 survival requires a bone…
This interview was originally published on the AMADYS website I was recently interviewed by Matthieu Creson for AMADYS to share my experience living with dystonia for nearly 20 years, as…
Regeneron Pharmaceuticals has recently announced the results of Phase 2 of their study of pozelimab, which is an experimental treatment for paroxysmal nocturnal hemoglobinuria. Current therapies for this condition…
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According to the UK’s National Institute for Health Research (NIHR), a new technology called machine perfusion (MP) has the potential to solve organ shortage, a major challenge in liver transplantation.…
Genetic Counselors are an incredible resource – they can help assess your risk of developing a condition, the risk of your children inheriting a condition, and what potential treatment or…
“I feel like I’m in a huge dream that nobody can get into,” Noemie explained, describing her weeks of intensive sleep during which she slept 20 hours a day, the…
I wanted to invite the invisibly disabled community to join the screening of ‘We Are Visible’, my film about people living with an invisible condition (Ehlers-Danlos syndrome) all around the…
Sometimes in moments of tragedy, there is a bright silver lining that helps us learn, and that's exactly what Amber Briggle was aiming to do. Back in October, Amber posted…
No healthcare professional wants to hear that a drug being studied in a clinical trial did not meet the endpoints. It means that after countless hours of hard work,…
The FDA has just provided Orphan Drug Designation to Hizentra for the treatment of adults diagnosed with chronic inflammatory demyelinating polyneuropathy (CIPD). This is a maintenance therapy which works to…
CureDuchenne has launched the CureDuchenne Biobank, a neutral, centralized and self-funded data hub that will unlock information to accelerate research. It will provide a consistent set of resources for scientific…
Marinus Pharmaceuticals has recently announced updates on its ganaxolone programs for tuberous sclerosis complex (TSC), PCDH19-related epilepsy (PCDH19-RE), and CDKL5 deficiency disorder (CDD). Ganaxolone Ganaxolone is a positive allosteric modulator…
An open letter to The Editor from Gaetani et al was recently published in the Orphanet Journal of Rare Diseases. Dr. Gaetani and associates at the Fondazione Policlinico Universitario, Rome Italy,…
David Fajgenbaum was diagnosed with Castleman disease while he was still a medical student. He was perfectly healthy, but in a few days he had organs failing. He was treated…
A new study has been initiated by a digital health company in the United Kingdom called Congenica Ltd. This study focuses on re-annotating genes that may be associated with…
Galectin Therapeutics has recently started to plan the third phase of its clinical trial of belapectin, which treats nonalcoholic steatohepatitis (NASH). They are making refinements based on a conversation…
It is estimated that about 10% of people in the United States have rare diseases. But what makes a disease rare? How does this distinction affect diagnosis and treatment?…
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