Phenylketonuria (PKU) – the poster child for newborn screening!
Phenylketonuria, or PKU, is a rare inborn error of metabolism caused by a defect in the PAH gene that prohibits the correct production of an enzyme needed to process the…
Phenylketonuria, or PKU, is a rare inborn error of metabolism caused by a defect in the PAH gene that prohibits the correct production of an enzyme needed to process the…
My name is Brenda. In April 2021, I received a life-changing diagnosis of Primary Biliary Cholangitis (PBC), which I attribute to divine intervention. The journey began in January 2021, when…
Blunt trauma from car accidents contribute to optic nerve damage and blindness. Glaucoma is also responsible for similar optic nerve damage. It is known to be the second worldwide cause…
Alpha-1 Antitrypsin Deficiency: According to the Alpha-1 Foundation, 1 in 1,500 to 3,500 people of European descent are affected by this rare genetic disease. Antitrypsin or A1AT is a plasma…
In 2003 at the age of 38, I was diagnosed with primary biliary cholangitis, or PBC. I went for routine bloodwork which came back showing crazy high liver function and…
A little background on me - I was born and raised in Western NY. I am married and have two daughters. They keep me and my wife busy and our…
"Rock Bottom" is the story of a family who’s second born child, a son named Ashton, was born with Mucolipidosis Type II, a disease so rare and so frequently mistaken…
There was rarely a quiet moment in my childhood home as the youngest of seven kids in a bustling, loving family in Pittsburgh, Pennsylvania during the 1970s and 80s. My…
In 1999, Towana Looney, a resident of Alabama, donated one of her own kidneys to help save her mother’s life. Then Towana waited eight years for an organ transplant that…
This is Rachel Heilmann's story - This is about how grief can fuel action, and why the smartest innovators are the ones with nothing left to lose and everything left…
Patient Worthy is fortunate to be partnered with the Glanzmann Research Foundation, Inc. and proud to present Joy's story of living with Glanzmann Thrombasthenia (GT). To learn more about the…
A recent study by Texas A&M researchers evaluated the results to male offspring of parental alcohol exposure. The exposure to the chemical diethylnitrosamine was found to be disruptive to mitochondrial,…
Patient Worthy is so grateful to our partners IPPF-The International Pemphigus & Pemphigoid Foundation and for the change to share Halima's story. IPPF's mission is to improve the quality of…
Due to the efforts of public health officials in the 1940s, Murine typhus was almost eradicated in the United States. However, there now appears to be a resurgence in the…
Malaria remains responsible for 50,000 deaths annually. An ever-expanding population coupled with malaria gaining resistance to treatments are prominent roadblocks. As reported in Science Alert, the plan is radical. The…
Patient Worthy is proud to support Parkinson's Disease Awareness Month, and we are honored to share John's story. To read John's story about Grief in Early Diagnosis, click here. The…
Prader-Willi syndrome is a leading cause of obesity in children. The rare disease was discovered over seventy years ago, yet this is the first therapy to be approved by the…
Patient Worthy is privileged to share Jenny's story through our partnership with the Aplastic Anemia and MDS International Foundation. Since 1983, the AAMDS International Foundation has served the aplastic anemia,…
National Cancer Center researchers have discovered a mechanism for liver regeneration in animal models triggered almost immediately after episodes of severe liver damage. The study, reported in MedicalXpress, explains that…
My name is Pashondra James and I am a CHRONIC ILLNESS WARRIOR! My fight with my health started way before I was diagnosed. I was misdiagnosed twice before 2011, and…
Patient Worthy is proud to support Parkinson's Disease Awareness Month, and we are honored to share John's story. It was something my therapist told me that started this whole thing.…
For Bubba 7/31/1997 - 7/22/2018 How do you love a child you know will die young? You love recklessly, with abandon. You don’t mean to - but you can’t stop…
Patient Worthy is honored to present this story by way of the GACI Global. GACI Global is a nonprofit organization whose mission is to connect families affected by Generalized Arterial…
Professor Sophia Padilla, lead author of a new study on antibiotic resistance describes the cycle in an article published in UC Irvine’s American Chemical Society Journal. Scientists develop drugs to…