Atlanta, Georgia’s Linseigh Green received a diagnosis of necrotizing enterocolitis (NEC) when she was born. She was sent to the hospital’s NICU only two weeks after her birth. Linseigh’s…
When it comes to drug development and medical research, particularly within the rare disease sphere, it is incredibly important for patients to feel involved in the process. After all, patients…
The XV International Conference on Rare Diseases-D'Genes was streamed in sixteen countries in April 2022. Juan Carrión, D’Genes President, announced that the theme for 2022 is Equity and Rights…
Researchers have known about EGCG for decades. It is a plant compound called catechin found in green tea that may prevent disease and protect cells from damage. According to…
Newborn screening is a public health program in which infants are screened for various metabolic, genetic, and developmental disorders shortly after birth. Through newborn screening, doctors may identify potential disorders…
Currently, there are a number of therapies which can be used to treat individuals with dermatomyositis: corticosteroids, immunosuppressive agents, intravenous immune globulin (IVIG). Typically, corticosteroids are considered a first-line treatment,…
Prior to joining the Marine Corps, Jane Shepard was, for all intents and purposes, fairly healthy. However, after becoming stationed at Camp Lejeune in 1984, Jane’s health spiraled. She often…
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…
According to a story from mirror.co.uk, Emma Timofte, age six, was diagnosed with a rare disease called incontinentia pigmenti. The diagnosis came when she was only a few weeks old.…
In 2005, The Chronicles of Narnia: The Lion, the Witch, and the Wardrobe brought us into the fantastical world of Narnia. Much like in the novels, the film's stars journeyed to…
Because it is Thanksgiving, the Patient Worthy team asked me to share my thoughts on gratitude. Some among us might think it would be a daunting assignment. After all, I have a…
People within the rare disease community face many barriers in regard to the diagnostic process. It can take years to receive an accurate diagnosis. Paired with medical costs and…
There is a certain time of year in which the trees change color, the air becomes crisp and we pour gravy on everything. As I am typing this, I am…
I love Thanksgiving! It's a great time to catch up with friends and family. The one drawback is my diet is strictly controlled due to my rare disease, so at…
Proton pump inhibitors (PPIs) are a class of medicine that reduce the amount of stomach acid production. They are commonly known for their use in acid-related disorders, such as gastroesophageal…
I love quotes. Some of them I read or hear and they go in one ear and out the other. Those that really resonate stick with me and help change…
Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…
On November 15, 2022, the Rare Disease Legislative Advocates (RDLA) hosted their monthly webinar. These webinar help provide updates to the rare disease community on legislation and other policy initiatives…
Before you read on, make sure to check out Part 1 of our interview. In Part 1, Chris Peetz discusses his background, why he joined Mirum, and the process of evaluating LIVMARLI…
Before you read on, make sure to check out Part 1 of our interview, where Annie, Peter, and Patterson discuss what recessive dystrophic epidermolysis bullosa (RDEB) is, Patterson's diagnostic journey, and how…
In the United States, the FDA grants Orphan Drug designation to drugs or biologics intended to treat, diagnose, or prevent rare diseases or conditions. A rare disease is one…
Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…
Reports by experts find approximately five to ten percent of cancers may be traced to hereditary genetic changes (germline mutations) which exist in each and every cell. Instead, research in…
The American Association for the Study of Liver Disease (AASLD) held its annual Liver Meeting from November 4-7, 2022 in Washington, D.C. During the meeting, Mirum Pharmaceuticals shared two late-breaker…
Annie and Peter McKenzie describe their seven-year-old son Patterson as having a “heart of gold.” Patterson is bright, funny, happy, and empathetic. Despite his insistence that he is not a…
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