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…
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…
Enzyme replacement therapy (ERT) is an approved treatment strategy for those with Pompe disease. It involves providing patients with alpha-glucosidase, which helps to break down glycogen. In addition to reducing…
Danny's Dose Family Education Event: Baton Rouge, LA October 22, 2022 FOR ADULTS and FAMILIES LIVING WITH RARE DISEASE OR CHRONIC ILLNESS REQUIRING SPECIALIZED EMERGENCY CARE and/or MEDICATIONS! 10:00 –…
Online Webinar: Fighting Against the Global Issue of Substandard (SF) and Falsified Medical Products With Dr. Bahijja Raimi-Abraham October 20, 2022 Dr Bahijja Raimi-Abraham is a pharmacist, Lecturer in Pharmaceutics…
If you’re into electronic music, you need to check out DJ Funk Puppy. This ten-year-old (who goes by Richard Tyler Greene III in his day-to-day life) is a talented DJ,…
When Branden was just a young child, he was diagnosed with a rare genetic disorder called chronic granulomatous disease (CGD). Now, at 33 years old, Branden is passionate about raising…
Families caring for medically complex children face almost unfathomable decisions, often with no prior experience to guide their thinking and acting. Second only to the clinician expertise on which…
It’s no secret that receiving a rare disease diagnosis can take excess amounts of time. Various articles share that, on average, it takes anywhere from four to nine years for…
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,…
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…
For as long as he could remember, Georgie Davey had one word that he thought described himself: “clumsy.” When he was a child, Georgie would frequently trip and fall. He…
On September 28, 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…
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…
The new nonprofit Every Cure has been created on the basis that every drug currently on the market effects multiple areas in the body. This premise has been proven…
Before you continue, make sure you've read Part 1 of our interview, where we discussed the Lord family's story and experience with rare disease, and the development of MobiMedQR. This tool, which…
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,…
When asked his most important piece of advice for families within the rare disease community, Jeffrey Lord said: Do what you can control and move on from there. Every day,…
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