2024 – Page 14 – Patient Worthy

Jo and Oscar. Photo courtesy of Jo Ward

Rare Community Profiles: A Mother-Son Pair Discuss the Importance of Wellbeing in Managing NF2-Related Schwannomatosis (NF2)

Post author:Jessica Lynn
Post published:April 4, 2024
Post category:Neurofibromatosis Type 2

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

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Study Lists Neurological Disease as the Top Cause of Disability and Illness Around the World

Post author:Rose Duesterwald
Post published:April 3, 2024
Post category:Rare Disease

Neurological conditions now have the highest rates of disability and ill health worldwide. The Disparity Although more than 80% of the neurological deaths and nervous system disorders occur in lower…

source: shutterstock.com

Winrevair is Now FDA-Approved for Pulmonary Arterial Hypertension (PAH)

Post author:Jessica Lynn
Post published:April 3, 2024
Post category:pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare, chronic, and progressive disorder characterized by high blood pressure in the lungs. This causes pulmonary arteries to thicken or harden, which eventually puts…

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Rare Community Profiles: Yellow for Yiannis: Angela’s Mission to Advance Research into IRF2BPL

Post author:Jessica Lynn
Post published:April 3, 2024
Post category:Alstrom syndrome IRF2BPL-related disorder Rare Disease

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

source: shutterstock.com

This Charcot-Marie-Tooth Disease Patient is Circumnavigating the Globe Solo

Post author:Rose Duesterwald
Post published:April 2, 2024
Post category:Charcot-Marie-Tooth disease

Jenny Decker began her solo voyage in her 1983 Bristol 35.5 Tiama from Honokōhau, Hawaii on June 28, 2023 (see Patient Worthy articles Part 1 and Part 2.) Jenny hopes…

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Rare Community Profiles: A Mother’s Journey to Raise 4H Leukodystrophy POLR3B Awareness and Change Her Son’s Life

Post author:Jessica Lynn
Post published:April 2, 2024
Post category:4H syndrome

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

source: pixabay.com

Study of the Week: Cushing’s Disease Remission via Surgery May Boost Autoimmune Disease Risk

Post author:James Moore
Post published:April 1, 2024
Post category:Cushing Disease

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…

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Researchers Begin Testing Gene Therapies in Whole Human Liver

Post author:Rose Duesterwald
Post published:April 1, 2024
Post category:Rare Disease

A study by a team of scientists at the Children’s Research Institute was reported this week in the journal Nature Communications. The study is welcomed by the medical profession as…

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ICYMI: AIT-101 Earned Orphan Drug Designation in the EU for ALS in March 2024

Post author:Jessica Lynn
Post published:April 1, 2024
Post category:Amyotrophic Lateral Sclerosis

Historically, it has been difficult to incentivize companies to develop therapies for rare or “orphan” conditions. The National Conference of State Legislatures (NCSL) explains that “orphan” conditions are: neglected conditions…

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Phase 2 Study Evaluates Nizubaglustat for Niemann-Pick Disease type C

Post author:Jessica Lynn
Post published:March 29, 2024
Post category:Niemann-Pick Disease Niemann-Pick Type C Disease

There are limited therapeutic interventions for those living with Niemann-Pick disease type C (NPC), a rare and progressive genetic disorder. Unfortunately, many people with NPC experience severe and life-threatening complications…

source: shutterstock.com

Duvyzat (givinostat) Now FDA-Approved for Duchenne Muscular Dystrophy (DMD)

Post author:Jessica Lynn
Post published:March 29, 2024
Post category:Duchenne Muscular Dystrophy

The Duchenne muscular dystrophy (DMD) community has a reason to celebrate. According to a recent news release, the FDA recently approved Duvyzat (givinostat) for people ages six and older who…

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Rare Classroom: Sandhoff Disease

Post author:James Moore
Post published:March 29, 2024
Post category:Sandhoff disease

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most…

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Atlanta Braves’ Ronald Acuña Jr. Plays Catch with Fan Living with Cystic Fibrosis (CF)

Post author:Jessica Lynn
Post published:March 28, 2024
Post category:Cystic Fibrosis

Ronald Acuña Jr. is a professional baseball player with the Atlanta Braves. The powerhouse player is known for being an NL MVP and for becoming the first player in Major…

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“Rockin’ for Rudy” Supports a Family Whose Son Has LAMA2-MD

Post author:Jessica Lynn
Post published:March 28, 2024
Post category:Congenital Muscular dystrophy

There are over 30 subtypes of congenital muscular dystrophy (CMD), or muscular dystrophies that are present at birth. These rare genetic disorders often manifest in hypotonia (low muscle tone) and…

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Rare Community Profiles: Could It Be HCM? A Mother-Daughter Duo Raise Hypertrophic Cardiomyopathy Awareness

Post author:Jessica Lynn
Post published:March 28, 2024
Post category:Hypertrophic Cardiomyopathy

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

source: pixabay.com

Achieving Cushing’s Disease Remission After Surgery Could Increase Risk of New-Onset Autoimmune Disease

Post author:Jessica Lynn
Post published:March 27, 2024
Post category:Cushing Disease

People with Cushing's disease have a benign pituitary tumor or pituitary growth that, when triggered, overproduced adrenocorticotropic hormone (ACTH). Too much ACTH causes the body to also overproduce cortisol. Known as…

Photo by Towfiqu barbhuiya on Unsplash

Povorcitinib Performs Well in Phase 2 Prurigo Nodularis Study

Post author:Jessica Lynn
Post published:March 27, 2024
Post category:Prurigo nodularis

Dupixent has long been known as a therapy which reduces itch, slows disease progression, and reduces exacerbations in a number of allergic conditions such as asthma, eczema, and nasal polyps.…

Photo by Robina Weermeijer on Unsplash

Rare Community Profiles: A Potential Treatment Turning Point for ALK-Positive NSCLC: Dr. Ken Culver Shares Insights from the Phase 3 ALINA Study on Alecensa

Post author:Jessica Lynn
Post published:March 27, 2024
Post category:Lung Cancer Rare Disease

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

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Positive Data Suggests NT-0796 Could Benefit People with Parkinson’s Disease

Post author:Jessica Lynn
Post published:March 26, 2024
Post category:Parkinson's Disease

Parkinson's disease is a progressive neurodegenerative disease. As neurons in the brain degenerate and die, those affected experience symptoms such as tremors or shaking in the hands, slowed movement, muscle…

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CABA-201 for Systemic Sclerosis Earns Orphan Drug Designation

Post author:Jessica Lynn
Post published:March 26, 2024
Post category:Systemic Scleroderma Systemic Sclerosis

Right now, no cure exists for people living with systemic sclerosis (also known as systemic scleroderma). There are treatment options available to manage systems. However, these also come with issues.…

Rare Community Profiles: For Rare Disease Week, Barth Syndrome Advocates Took to Capitol Hill to Urge the FDA to Review NDA for Elamipretide

Post author:Jessica Lynn
Post published:March 26, 2024
Post category:Barth Syndrome

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

SADS Foundation Will Meet with FDA in June on New Treatments for LQTS and CPVT

Post author:Jessica Lynn
Post published:March 25, 2024
Post category:Long QT Syndrome

The Sudden Arrhythmia Death Syndromes (SADS) Foundation - a Patient Worthy partner - was founded in 1991 to provide support and care for people affected by heart arrhytmia conditions that…

source: shutterstock.com

American College of Medical Genetics and Genomics 2024: Advances Promise a Better Future for Rare Disease Patients

Post author:James Moore
Post published:March 25, 2024
Post category:Rare Disease

The overwhelming majority of rare diseases and conditions have a genetic basis. This means that the disease is the result of a genetic abnormality such as a mutation. These abnormalities…

Photo courtesy of Uplifting Athletes

Strength Beyond Measure: NFL Hopefuls Bench Press for Rare Disease Awareness

Post author:Jessica Lynn
Post published:March 25, 2024
Post category:Rare Disease

In the world of sports, the spotlight often shines on athletic prowess and competitive spirit. Yet Uplifting Athletes—a Patient Worthy partner—has transformed the narrative on the power of sport for…

source: shutterstock.com

New Podcast Episode: Hemophilia and Axel’s Story, feat. Patient Advocate Kristina Robinson

Post author:Colby Rogers
Post published:March 22, 2024
Post category:Hemophilia A

Patient Worthy's award-winning podcast "Wait, How Do You Spell That? A Rare Disease Podcast" is back with a new episode. This week, Colby is sitting down with Kristina Robinson, a…

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Study Lists Neurological Disease as the Top Cause of Disability and Illness Around the World

Winrevair is Now FDA-Approved for Pulmonary Arterial Hypertension (PAH)

This Charcot-Marie-Tooth Disease Patient is Circumnavigating the Globe Solo

Rare Community Profiles: A Mother’s Journey to Raise 4H Leukodystrophy POLR3B Awareness and Change Her Son’s Life

Study of the Week: Cushing’s Disease Remission via Surgery May Boost Autoimmune Disease Risk

Researchers Begin Testing Gene Therapies in Whole Human Liver

ICYMI: AIT-101 Earned Orphan Drug Designation in the EU for ALS in March 2024

Phase 2 Study Evaluates Nizubaglustat for Niemann-Pick Disease type C

Duvyzat (givinostat) Now FDA-Approved for Duchenne Muscular Dystrophy (DMD)

Rare Classroom: Sandhoff Disease

Atlanta Braves’ Ronald Acuña Jr. Plays Catch with Fan Living with Cystic Fibrosis (CF)

Rare Community Profiles: Could It Be HCM? A Mother-Daughter Duo Raise Hypertrophic Cardiomyopathy Awareness

Achieving Cushing’s Disease Remission After Surgery Could Increase Risk of New-Onset Autoimmune Disease

Povorcitinib Performs Well in Phase 2 Prurigo Nodularis Study

Rare Community Profiles: A Potential Treatment Turning Point for ALK-Positive NSCLC: Dr. Ken Culver Shares Insights from the Phase 3 ALINA Study on Alecensa

Positive Data Suggests NT-0796 Could Benefit People with Parkinson’s Disease

CABA-201 for Systemic Sclerosis Earns Orphan Drug Designation

Rare Community Profiles: For Rare Disease Week, Barth Syndrome Advocates Took to Capitol Hill to Urge the FDA to Review NDA for Elamipretide

SADS Foundation Will Meet with FDA in June on New Treatments for LQTS and CPVT

American College of Medical Genetics and Genomics 2024: Advances Promise a Better Future for Rare Disease Patients

Strength Beyond Measure: NFL Hopefuls Bench Press for Rare Disease Awareness

New Podcast Episode: Hemophilia and Axel’s Story, feat. Patient Advocate Kristina Robinson

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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