Rare Disease – Page 10 – Patient Worthy

Photo courtesy of Sarita Edwards

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

Post author:Jessica Lynn
Post published:March 29, 2023
Post category:Rare Disease Trisomy 18

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…

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What Rare Disease Patients Want Doctors to Know

Post author:Stephanie Ernst
Post published:March 24, 2023
Post category:Rare Disease

Receiving a diagnosis can be difficult, and when you add into the equation that it’s for a rare disease, it can be a very lonely and isolating time. There is…

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CURE ID: Drug Repurposing Provides Big Impact for Patients

Post author:Patient Worthy Contributor
Post published:March 24, 2023
Post category:Rare Disease

Contributed by Critical Path Institute (C-Path) and republished by Patient Worthy - find the original source article here. C-Path’s CDRC is positioned to inform future clinical trials for diseases of…

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Senator Amy Klobuchar Raises Rare Disease Awareness

Post author:Jessica Lynn
Post published:March 23, 2023
Post category:Rare Disease

As reported by Valley News Live, Senator Amy Klobuchar (D-MN) has long been a supporter of the rare disease community. In the past, Senator Klobuchar has spoken at virtual press…

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ORDI Held RaceFor7 in March to Raise Rare Disease Awareness

Post author:Jessica Lynn
Post published:March 22, 2023
Post category:Rare Disease

Raising rare disease awareness is incredibly important - not just to spur research, but to validate the experiences of those within this community. Around Rare Disease Day on February…

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New Rare Disease Network Launches in Ireland

Post author:James Moore
Post published:March 22, 2023
Post category:Rare Disease

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…

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UNM Children’s Hospital Supports Boy with IQSEC2

Post author:Jessica Lynn
Post published:March 21, 2023
Post category:Rare Disease

For the first two years of his life, Rafe Hibben seemed to be progressing like a relatively healthy little boy. But when he was two years old, Rafe’s health went…

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ICYMI: NORD Publishes Annual “State Report Card” to Rate States on Rare Disease Issues

Post author:Jessica Lynn
Post published:March 21, 2023
Post category:Rare Disease

For the last eight years, the National Organization for Rare Disorders (NORD) has developed a State Report Card; the goal of this project is to evaluate the effectiveness of…

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What’s the Best Thing We Can do When We Are in Pain?

Post author:Tom Seaman
Post published:March 20, 2023
Post category:Dystonia Rare Disease

In a word, nothing. In two words, don’t panic. In two other words that are the same but are more positive and action oriented…be calm. Let me explain…when we experience…

Compassion Corner: How to Avoid Compassion Fatigue in Nursing

Post author:Rose Duesterwald
Post published:March 16, 2023
Post category:Rare Disease

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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Science Simplified: How Do You Interpret a Line Graph?

Post author:Patient Worthy Contributor
Post published:March 15, 2023
Post category:Rare Disease SLC13A5 deficiency

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…

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

Post author:Jessica Lynn
Post published:March 14, 2023
Post category:Rare Disease

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…

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Rare Disease Week on Capitol Hill 2023

Post author:James Moore
Post published:March 10, 2023
Post category:Rare Disease

From February 28 to March 2, rare disease advocates met in Washington, DC for the 12th Annual Rare Disease Week on Capitol Hill. Organized by Rare Disease Legislative Advocates (RDLA),…

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)

Post author:Jessica Lynn
Post published:March 9, 2023
Post category:Rare Disease

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…

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Rare Disease Day at NIH 2023: In Recognition of Achievement in Research and Community

Post author:James Moore
Post published:March 9, 2023
Post category:Rare Disease

February 28th is recognized as Rare Disease Day around the world each year. This day is intended to bring recognition and awareness to the plight of the millions of people…

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)

Post author:Jessica Lynn
Post published:March 8, 2023
Post category:Rare Disease ZMYM2-related disorder

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…

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)

Post author:Jessica Lynn
Post published:March 7, 2023
Post category:Rare Disease

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…

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

Post author:Rose Duesterwald
Post published:March 2, 2023
Post category:Rare Disease

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…

Clinical Development of Gene Therapy Products for Rare Diseases

Post author:Rose Duesterwald
Post published:March 2, 2023
Post category:Rare Disease

A town hall meeting was held on February 7th of this year to discuss designs for clinical trial gene therapies. According to a report in Pharmaceutical-Technology, the FDA experts were…

Photo courtesy of Kyla McGaughey

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

Post author:Jessica Lynn
Post published:March 1, 2023
Post category:Gleich syndrome Rare Disease

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…

Photo courtesy of Kyla McGaughey

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

Post author:Jessica Lynn
Post published:February 28, 2023
Post category:Compartment syndrome Gleich syndrome Rare Disease

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…

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Woman with Aspergillus Bronchitis Warns of Mold Risks

Post author:Jessica Lynn
Post published:February 21, 2023
Post category:Rare Disease

When she was just 26 years old, Lisa McNeil had a pulmonary embolism (a condition in which a blood clot gets stuck in an artery in the lung, blocking…

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

Post author:Rose Duesterwald
Post published:February 17, 2023
Post category:Rare Disease

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…

Attend the Global Innovation in Patient Advocacy Conference: March 9-10, 2023

Post author:James Moore
Post published:February 17, 2023
Post category:Rare Disease

Patients want to be an integral part of drug development. Their voices have been heard on many topics ranging from the importance of Newborn Screening, choosing meaningful endpoints and meaningful…

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Jennifer’s Story: Learning to Manage Chronic Hypersensitivity Pneumonitis (CHP) (Pt. 2)

Post author:Jessica Lynn
Post published:February 16, 2023
Post category:Rare Disease

Before you read on, don't forget to check out Part 1 of Jennifer's story. In Part 1, Jennifer shared her diagnostic journey and the four year stretch it took her to receive…

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

What Rare Disease Patients Want Doctors to Know

CURE ID: Drug Repurposing Provides Big Impact for Patients

Senator Amy Klobuchar Raises Rare Disease Awareness

ORDI Held RaceFor7 in March to Raise Rare Disease Awareness

New Rare Disease Network Launches in Ireland

UNM Children’s Hospital Supports Boy with IQSEC2

ICYMI: NORD Publishes Annual “State Report Card” to Rate States on Rare Disease Issues

What’s the Best Thing We Can do When We Are in Pain?

Compassion Corner: How to Avoid Compassion Fatigue in Nursing

Science Simplified: How Do You Interpret a Line Graph?

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

Rare Disease Week on Capitol Hill 2023

Rare Disease Day at NIH 2023: In Recognition of Achievement in Research and Community

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

Clinical Development of Gene Therapy Products for Rare Diseases

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)

Woman with Aspergillus Bronchitis Warns of Mold Risks

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

Attend the Global Innovation in Patient Advocacy Conference: March 9-10, 2023

Jennifer’s Story: Learning to Manage Chronic Hypersensitivity Pneumonitis (CHP) (Pt. 2)

Metastatic Breast Cancer: Navigating Grief

Rethinking What It Means to Live With Acromegaly

The Let’s Chat CAR T One-on-One Mentor Program: Speaking with Someone Who Understands What You Are Going Through

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