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…
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…
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…
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…
From October 7-11, 2022, the AAPNational Conference & Exhibition offered insight into clinical practices, trends, and other important information within the pediatrics specialty. According to Contemporary Pediatrics, the Family Heart…
The current standard-of-care for Fabry disease is called enzyme replacement therapy (ERT). According to Fabry Disease News, researchers have been working to evaluate an experimental ERT for patients called ISU303.…
Familial hypercholesterolemia (FH) is an inherited form of very high cholesterol. Early treatment is needed for those living with FH to lower cholesterol levels and reduce the risk of heart…
More rare conditions are discovered as we learn more about the human body and genetics. For example, shares an article in Medical XPress, a research team from the University of…
WA State Rare Chronic Illness Support Group A supportive group for WA state residents living with rare health challenges facilitated by Carrie Pope, MSW, LICSW 2nd Friday of each month,…
The European Society for Gene and Cell Therapy (ESGCT) recently held its Annual Congress from October 11-14, 2022. During the ESGCT Congress, various stakeholders discussed data, trends, and new research…
The FDA created the Rare Pediatric Disease Designation and Priority Review Voucher Program to stimulate the development of therapies intended to treat, diagnose, or prevent rare pediatric diseases. These are…
Did you know that November is National Family Caregivers Month? Celebrated annually, this month is designed to recognize the contributions of caregivers and honor their actions. In a recent…
In the United States, Orphan Drug designation is granted to drugs or biologics intended to treat, prevent, or diagnose rare diseases or conditions. A rare condition is one affecting fewer…
Before you read on, make sure to check out Part 1 of our interview with Geraldine Bliss, the President and Co-Founder of CureSHANK and mother to Charles, who has Phelan-McDermid syndrome. Today,…
Prior to her daughter Avenly’s diagnosis, Lacy Biram had never before heard of Phelan-McDermid syndrome (PMS). Currently, there are an estimated 2,200-3,000 people worldwide who have this rare condition. For…
Genetic Counselor Awareness Day is recognized on the second Thursday of November each year. In 2022, the day falls on the 10th of November. This awareness day is intended…
On November 8th, 2022, CureSHANK is sponsoring an Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting for Phelan-McDermid Syndrome (PMS). Co-planned by the Phelan-McDermid Syndrome Foundation, this virtual EL-PFDD meeting will: [give]…
Branson Figueroa is four years old – and he’s tough. He has to be; after being born with craniosynostosis, Branson has had to undergo skull reconstruction surgeries twice already. According…
Web-Based Rare Chronic Illness Support Group A peer support group for those living with rare health challenges led by Kerry Heckman, MSW, LICSW 1st Tuesday of each month, 4-5pm PST…
On October 20, 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…
Did you know that bone mass accrual and bone mineral density depend highly on puberty? Because of this, puberty delays or interruptions can negatively affect bone mineral density or cause…
Compassion [kuhm-pash-uhn] noun A feeling of deep sympathy and sorrow for another who is stricken by misfortune, accompanied by a strong desire to alleviate the suffering. Compassion Corner is a…
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