Spinal Muscular Atrophy
Falling: The Journey of Strength, Survival and Rising
Patient Worthy is excited to share our most recent episode of our podcast Wait, How Do You Spell That? featuring Lisa Batista. Lisa shares her story
A Rare Diagnosis: Families in Wales Face the Reality of DRPLA
- September 22, 2025
Controlling The Response After Cancer
How One Family is Navigating Life with XLID98, A Genetic Condition with Only 298 Known Cases
Real-World Evidence Sheds Light on SYMPAZAN® Oral Film Use for Lennox-Gastaut Syndrome
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Duchenne Muscular Dystrophy
Long-Term Study Shows Givinostat’s Promise for Duchenne Muscular Dystrophy Treatment
ITF Therapeutics has announced the publication of encouraging long-term data supporting the efficacy and safety of givinostat as a treatment for Duchenne muscular dystrophy (DMD),
Hemophilia A
One-Stage Assay May Underestimate Bleeding Risk After Gene Therapy in Hemophilia A Patients
A recent study highlighted in Hematology Advisor explores the challenges of monitoring patients with hemophilia A after gene therapy, specifically focusing on the reliability of
Narcolepsy
From Ballet Studios to Research Clinics: Page’s Journey with Narcolepsy
I was diagnosed with Type-1 narcolepsy when I was 20 years old. At the time, I was living in Germany, dancing as a professional ballet
Alpha-1 antitrypsin deficiency
BeginNGS and Sidra Medicine Unite to Transform Newborn Genetic Screening in Qatar
The Rady Children’s Institute for Genomic Medicine (RCIGM) has announced a landmark international collaboration with Sidra Medicine in Qatar to launch the BeginNGS® newborn genome
Rare Disease
Diabetes and MASLD: Why Early Screening and Intervention Matter
According to a recent article from JournalFeed, the relationship between type 2 diabetes and metabolic dysfunction-associated steatotic liver disease (MASLD) is increasingly coming to the
Retinoblastoma
A Bath-Time Glow That Sparked a Lifesaving Diagnosis
A routine evening became pivotal for a Portsmouth family when a bright white reflection appeared in nine-month-old Nora’s left eye under bathroom lights. As was
SATB2-associated Syndrome
Urban’s Life with SATB2-Associated Syndrome
Acknowledgement: Patient Worthy is honored to share this story by Erika Stariha, Co-Founder and President of SATB2 Europe. This is Urban, my teenage firstborn. He
Alpha-1 antitrypsin deficiency
AlphaDetect: A Bold New Era for Centralized Alpha-1 Antitrypsin Deficiency Detection
The Alpha-1 Foundation (A1F) has announced a groundbreaking advancement in the fight against Alpha-1 Antitrypsin Deficiency (AATD) with the launch of AlphaDetect, a dedicated non-profit
Metabolic dysfunction-associated steatohepatitis
FDA Approves New Treatment for MASH: A Landmark in Liver Disease Care
The U.S. Food and Drug Administration (FDA) reported the approval of semaglutide injections for metabolic dysfunction-associated steatohepatitis (MASH), marking a major milestone in the fight
Breast Cancer
Finding Light in the After
ACKNOWLEDGMENT Patient Worthy is grateful to our partner Elephants & Tea for providing the following article by Gina Jackson. Elephants & Tea‘s mission is to
Friedreich ataxia
FDA Requests More Data on Vatiquinone for Friedreich Ataxia: What’s Next for PTC Therapeutics?
PTC Therapeutics announced that the US Food and Drug Administration (FDA) issued a Complete Response Letter (CRL) regarding the company’s New Drug Application (NDA) for
Duchenne Muscular Dystrophy
Overcoming the Darkness: Jace’s DMD Journey
Our youngest son, Jace, is 11 years old with Duchenne Muscular Dystrophy. It is a fatal muscle-wasting disease, and there is currently no cure. We
Rare Disease
Understanding Chromosome 8P: Insights from the TREND Community
In our third installment from our series of reports provided by our partner TREND Community, we are going to be focusing on a different condition
Rare Disease
Causal Pivot: A Game-Changing Tool Reveals Hidden Genetic Routes in Complex Diseases
A team of scientists from Rice University, Baylor College of Medicine, and the Jan and Dan Duncan Neurological Research Institute have introduced a significant breakthrough
Rare Disease
Two-Vector CNS Gene Transfer Delivers Early Gains in Tay-Sachs and Sandhoff
Early clinical data from a Phase I/II study at UMass Chan Medical School point to meaningful, measurable benefits from a central nervous system gene therapy
Metabolic dysfunction-associated steatohepatitis
Madrigal Reports Encouraging 2-Year Data for Treating Cirrhosis
ACKNOWLEDGEMENT – Patient Worthy is honored to partner with The Fatty Liver Foundation to provide you with this article. The Fatty Liver Foundation aims to improve
Barth Syndrome
Stalled Hope: Families Urge FDA to Clear Elamipretide for Barth Syndrome
After more than a decade of development, families say time is running out for children with Barth syndrome as the experimental therapy elamipretide faces yet
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OPMD Association Non-Profit for Oculopharyngeal Muscular Dystrophy A wonderful line-up of speakers! This is tomorrow!
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This week we would like to spotlight Ernie and his story living with prostate cancer. No one fights cancer alone, share your story to help raise awareness and inspire your fellow man! click the link to share:
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