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Patient Stories

Living and Advocating Through a Complex Medical Journey: Erythromelalgia, Visual Snow Syndrome, and Autoimmune Dysregulation

Hello, my name is Sierra Domb. Since childhood, I have experienced Erythromelalgia (EM) and Autoimmune Dysregulation (AD). […]

Living with a RARE Disease

Living with Brugada Syndrome

Brugada is insidious, especially for someone my age. It tends to “hide” in the ECG. Many times, it looks normal… but it isn’t. And with the myocarditis I had at the same time, it was even harder to get a correct diagnosis. The doctors didn’t know whether the findings were due to Brugada or to myocarditis. After my hospitalization, and after I suffered a fainting episode, it was finally decided that I should be implanted with a defibrillator (ICD). When it happened, I felt like life was given back to me.

Living with a RARE Disease

He Is Three. His Voice Isn’t Lost —It’s Waiting to Be Heard.

By the time a genetic diagnosis of a rare mutation in the PPP3CA gene finally arrived, critical months — even years — had slipped away. Milestones were missed while we waited for answers. Early concerns were minimized, and our pleas for help were too often brushed aside until delays became severe. That delay is not just a bureaucratic failure; it is lost opportunity — lost time for therapies that could have helped him build strength, communication, and independence.

Living with a RARE Disease

The Beginning of Our Lowe Syndrome Journey

By Caroline Tsai The sun blazes overhead without a cloud in sight. Only a high of 90 […]

Inclusion

Invincible Never Invisible: A Decade of InvisiYouth

I was competitive tennis player as a teen and was unfortunately injured in training, which resulted in dealing with an injury and neurovascular condition that changed the trajectory of my life. I was thrust into the world of living with a chronic illness, years of trying to find proper diagnoses and treatments, all while balancing life as a teen/young adult. During this entire young adult experience, my doctors would tell me “wait” till they could fix my health to live my life fully… I created InvisiYouth out of my love of philanthropy, and my newfound passion to giving a voice for the young adult population living with all chronic illnesses and disabilities for the non-medical aspects of their lives with health struggles.

Living with a RARE Disease

Beauty in Being Rare

Classical HCU is a condition in which my liver has a defective enzyme that is supposed to break down methionine. Instead, it builds up and turns into homocysteine, which is extremely toxic to your body. These elevated levels can result in blood clots, strokes, and other life-threatening complications. I follow an extremely restrictive low-protein diet—only about 10 grams of whole protein per day—alongside a methionine-free formula, the medication called betaine, and a cocktail of vitamins and supplements.

Latest News

Savara’s Early Access Program

Savara’s Early Access Program (EAP) for molgramostim inhalation solution (molgramostim) in Autoimmune Pulmonary Alveolar Proteinosis (Autoimmune […]

Publication Announcement — RARE-X: Advancing Rare Disease Research Through Patient-Driven Data

Global Genes is excited to announce “RARE-X: A patient-driven approach for collecting symptom and patient-reported outcome data […]

Accelerating Rare Disease Research Through Collaboration: Global Genes and Notre Dame Launch the Research Acceleration Program

Global Genes and University of Notre Dame have partnered to launch the Research Acceleration Program, a collaborative […]

Equity

RARE Advocacy Exchange Session 8, Knowing Your Rare Rights

This session recording is from Oct. 16, 2025 Rare Advocacy Exchange Session 8: Knowing the Rights for […]

Living with a RARE Disease

Global Genes Guide to Starting a Nonprofit Patient Advocacy Organization

This Global Genes Quick Guide is a resource for advocates focused on pressing topics causing challenges in […]

Diagnosis

RARE Advocacy Exchange Session 7, Getting a Precise Genetic Diagnosis

This session recording is from Sept. 18, 2025 Rare Advocacy Exchange Session 7: Getting A Precise Diagnosis […]

Explore our list of resources

Featured

Gene-Based Diagnosis 101: How to Successfully Navigate the Diagnostic Journey

A Case for Whole Genome Sequencing

Advances in Rare Immunological Diseases

Developmental Delays After Factor V Leiden Pregnancy

Patient Stories

Living and Advocating Through a Complex Medical Journey: Erythromelalgia, Visual Snow Syndrome, and Autoimmune Dysregulation

Living with Brugada Syndrome

He Is Three. His Voice Isn’t Lost —It’s Waiting to Be Heard.

The Beginning of Our Lowe Syndrome Journey

Invincible Never Invisible: A Decade of InvisiYouth

Beauty in Being Rare

Latest News

Savara’s Early Access Program

Publication Announcement — RARE-X: Advancing Rare Disease Research Through Patient-Driven Data

Accelerating Rare Disease Research Through Collaboration: Global Genes and Notre Dame Launch the Research Acceleration Program

RARE Advocacy Exchange Session 8, Knowing Your Rare Rights

Global Genes Guide to Starting a Nonprofit Patient Advocacy Organization

RARE Advocacy Exchange Session 7, Getting a Precise Genetic Diagnosis

Industry News

PTC Therapeutics Withdraws FDA Resubmission for DMD

Ultragenyx Cuts 10 Percent of Staff as Part of Restructuring

BridgeBio Reports Positive Phase 3 Results for Oral Achondroplasia Therapy

Changing the Autoimmune Disease Playbook with RNA-Engineered CAR T Cells

FDA Rejects Regenxbio’s MPS II Gene Therapy

Oxford-Harrington Awards Nearly $900K in Friedreich’s Ataxia Grants

Kingsmore Stepping Down from Rady Children’s Institute for Genomic Medicine

Rewriting Rare Disease R&D with Foundation Models

Trump Signs Legislation to Reauthorize PRV Program

Genetic Counseling

Global Genes Guide to Genetic Diagnosis

Global Genes 2025 Quick Guide Series

Angelina Spreading Light, Love, and Inspiration on CASK Gene Awareness Day

Team Wally Inspires During Fragile X Awareness Month

From First Symptoms to Advocate for Transverse Myelitis

Moving from Awareness to Action after Sickle Cell Disease Diagnosis

Research Readiness

A Gene Editing Approach to Work Across Multiple Diseases

NIH Makes $14.4 Million Award to Launch Initiative to Bring WGS to Newborn Screening

NIH awards Baylor $15.6 million to fund two rare diseases consortia

NIH launches $50 Million Autism Data Science Initiative

NIH Awards $8.6 Million Grant to Study Neurodevelopmental Conditions

NCATS Launches Challenge to Spotlight Rare Disease Research

Mental Health & Wellness

RARE Advocacy Exchange Session 6 : Grieving a RARE Diagnosis

A Student’s Perspective: Lessons from the 2025 RARE Drug Development Symposium

Global Genes Guide to Securing a State Proclamation for Rare Disease Awareness

Global Genes Guide to Your Rare Rights

Global Genes Guide to Fundraising

Global Genes Guide to Comprehensive Fundraising Strategic Documents

RARE Advocacy Exchange Session 5 : Interacting with FDA: PFDD and Listening Sessions

A PAG Leader Guide to Presenting the Patient Experience at Your EL-PFDD Session with the FDA.

Love, Advocacy, and Belonging: Reflections from a Rare Disease Ally

RARE Daily

Seeing Perseverance through a New Lens

Ultragenyx Reports Positive Longer-Term Data for MPS IIIA Gene Therapy as It Resubmits BLA to FDA

Sanofi’s Drug Meets Primary Endpoints in Type 3 Gaucher Disease Study

Quince Stock Tumbles and Board Members Resign After Phase 3 Miss in A-T

CIRM Approves $100 Million Plan to Accelerate Genetic Therapies for Rare Diseases

Moderna Enters Strategic Collaboration with Recordati for Rare Metabolic Disorder

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