Rare Community Profiles: How the #RAREis Global Advocate Grant Supported the E. WE Foundation: A Discussion with Sarita Edwards
Photo courtesy of Sarita Edwards

Rare Community Profiles: How the #RAREis Global Advocate Grant Supported the E. WE Foundation: A Discussion with Sarita Edwards

Rare Community Profiles     Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…

Continue Reading Rare Community Profiles: How the #RAREis Global Advocate Grant Supported the E. WE Foundation: A Discussion with Sarita Edwards
New Rare Disease Network Launches in Ireland
source: unsplash.com

New Rare Disease Network Launches in Ireland

According to a story from sciencex.com, Queen's University Belfast, University College Dublin, and a team of 33 other partners have come together to start the All-Ireland Rare Disease Interdisciplinary Research…

Continue Reading New Rare Disease Network Launches in Ireland
Malta’s National Alliance for Rare Diseases Creates First Rare Disease-Focused Children’s Book
https://pixabay.com/en/blur-blurred-book-book-pages-1283865/

Malta’s National Alliance for Rare Diseases Creates First Rare Disease-Focused Children’s Book

It’s incredibly important to raise rare disease awareness, spread education, and contribute to a more inclusive and equitable world. One of the best ways to start? Through children. Teaching the…

Continue Reading Malta’s National Alliance for Rare Diseases Creates First Rare Disease-Focused Children’s Book
A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 3)
Photo courtesy of Sharon and Katie Brown

A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 3)

Read Parts 1 and 2 of Katie's story, where we discuss the diagnostic journey, precocious puberty, and Katie's ZMYM2-related disorder diagnosis. Potential ZMYM2 Symptoms and the Need for Research The geneticist mentioned that symptoms…

Continue Reading A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 3)
A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 2)
Photo courtesy of Sharon and Katie Brown

A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 2)

Before you continue reading, make sure to check out Part 1 of Katie's story.  True Precocious Puberty: The First Official Diagnosis The endocrinologist first ran a blood test, later followed with a…

Continue Reading A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 2)
A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 1)
Photo courtesy of Sharon and Katie Brown

A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 1)

Katie Brown, age 15, loves learning Spanish, swinging, and special effects makeup. In the future, she is considering a possible career as a writer or a special effects artist; she…

Continue Reading A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 1)

The Journal of Emergency Medicine: By 2030 The Number of Midlevel Practitioners Will Equal the Number of Doctors In the ER

Emergency Room (ER) doctors are gradually being replaced by physician assistants and nurse practitioners. The Neiman Institute reported that between 2005 and 2020 the number of ER visits with midlevel…

Continue Reading The Journal of Emergency Medicine: By 2030 The Number of Midlevel Practitioners Will Equal the Number of Doctors In the ER
One of 50 People Worldwide: Why Kyla is Passionate about Raising Gleich Syndrome Awareness (Pt. 2)
Photo courtesy of Kyla McGaughey

One of 50 People Worldwide: Why Kyla is Passionate about Raising Gleich Syndrome Awareness (Pt. 2)

Before you read on, make sure to check out Part 1 of our interview. In Part 1, Kyla discusses the two-year diagnostic odyssey that brought her to the point of her Gleich…

Continue Reading One of 50 People Worldwide: Why Kyla is Passionate about Raising Gleich Syndrome Awareness (Pt. 2)
One of 50 People Worldwide: Why Kyla is Passionate about Raising Gleich Syndrome Awareness (Pt. 1)
Photo courtesy of Kyla McGaughey

One of 50 People Worldwide: Why Kyla is Passionate about Raising Gleich Syndrome Awareness (Pt. 1)

At nearly 33 years old, Kyla McGaughey has overcome more challenges that many people can imagine. Her medical journey began in 2019 and it took over two years for her…

Continue Reading One of 50 People Worldwide: Why Kyla is Passionate about Raising Gleich Syndrome Awareness (Pt. 1)
The Extremely Rare Disease BPTA Syndrome may Lead Scientists to Prevent the Development of Cancer
source: pixabay.com

The Extremely Rare Disease BPTA Syndrome may Lead Scientists to Prevent the Development of Cancer

  The Schleswig-Holstein University Hospital and the Max Planck Institute in Germany have investigated a hereditary condition that is extremely rare called brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (BPTA) syndrome. Symptoms…

Continue Reading The Extremely Rare Disease BPTA Syndrome may Lead Scientists to Prevent the Development of Cancer