Rare Disease Day 2023
In observance of Rare Disease Day, Rare Disease Advisor has curated this collection of content to illustrate the issues facing the rare disease community, highlight the advocacy work being done in the field, and share the perspectives of patients with rare diseases.
Adolescents and Young Adults With Rare Cancers Face a Unique Set of Challenges
The challenges faced by adolescents and young adults with rare cancers will be the topic of a session taking place on Rare Disease Day 2023.
Rare Disease Day 2023: Cast an Even Brighter Light on hATTR
For this rare disease patient, it is reassuring to discover online groups and organizations that connect me with others who live with hATTR.
NORD Eases Struggles of Rare Disease Patients and Caregivers
I’m grateful to have solid footing when it comes to the specialized level of care I’ve received for Duchenne muscular dystrophy (DMD).
Rare Disease Day Has Special Meaning for This CAD Patient
Rare diseases are not part of common knowledge. We don’t fit in the box. We are beyond what medical doctors are used to.
Rare Disease Month Thoughts From a Pompe Fighter
When I tell people about my rare disease, Pompe, the first thing they ask is “can I catch it?”
The ALGS Community Finds Solace in Organizations That Know Their Pain
Becoming part of the rare disease world, specifically (ALGS), is something me and my family never anticipated.
Living With CAD Can Be a Family Affair
One of the harder parts about having a rare disease such as mine, cold agglutinin disease (CAD), is dealing with the people in your life.
The Importance of Self-Care While Living With Pompe
Living with Pompe disease has always been a challenge to show your best.
I Would Like to Say Thank You to My Son’s Liver Transplant Donor
The night we received the phone call for my son to receive his liver transplant due to ALGS was chaotic.
Seeing Health Care From Different Angles as an MTC Patient
Before I was diagnosed with medullary thyroid cancer (MTC), I didn’t really have any experience with the health care system as a patient.
Living With a Serious Disease Requires Creative Releases
Finding creative outlets while living with myasthenia gravis (MG) can be difficult because of limited energy, mobility, or even accessibility.
My Diagnosis Story and Life Ahead With hATTR
My journey to a diagnosis of hATTR amyloidosis was long, confusing, and wrought with uncertainty.
Living With Multiple Sclerosis and Cognitive Impairment Demands a Plan
Cognitive impairment (CI) is not a given for every person living with multiple sclerosis (MS).
Dos and Don’ts for HCPs When Treating a Cancer Patient
For HCPs, I think it might be helpful to point out both the dos and the don’ts from the perspective of someone living with medullary thyroid carcinoma (MTC).
#RareDiseaseDay 2023
Test Your Knowledge About Genetic and Rare Diseases
If Your Doctor Hasn’t Heard of CAD, Turn to Support Groups
To My Fellow Rare Disease Patients: Celebrate Small Victories
Supporting Patients and Their Parents Upended by an Unexpected Diagnosis
Exploring the Parental Burden of Care of Children With Rare Diseases
The Mental Burden of a Cystic Fibrosis Diagnosis
The Psychiatric Toll Faced by Patients With Multiple Sclerosis
Other News
Ambitious NCATS Bespoke Gene Therapy Consortium Targets Ultrarare Diseases
Omidubicel Shows Promise as Replacement for Umbilical Cord Blood in Stem Cell Transplants
Considerations for Treating Women With HAE: Lessons From a Puzzling Type 3 Case
Positive Updated Data Reported for Bezuclastinib for Advanced SM
Study Determines Minimal Clinically Important Difference in 6MWD for PAH
New Potential Biomarker for DLBCL Identified
Risk Factors for Myasthenic Crisis Identified
Cystic Fibrosis Foundation Invests in 2 Experimental Gene Therapies
New Tool to Differentiate Between NMOSD and MS Identified
Features
At 40, Orphan Drug Act Enjoys Rare Bipartisan Support
Rare disease advocates are marking the 40th anniversary of the landmark Orphan Drug Act, which has led to over 1100 approvals for new therapies.
Exploring the Parental Burden of Care of Children With Rare Diseases
The parental burden of care of children with rare diseases is considerable and deserves due attention and support.
Alpha-1 Foundation Strives to Accelerate Development of New AATD Treatments
Scott Santarella spoke with Rare Disease Advisor about his new leadership position at the Alpha-1 Foundation based in Miami, Florida.
EveryLife Foundation Navigates Complex Issues to Advocate for Rare Disease Patients
The EveryLife Foundation for Rare Diseases pushes a legislative agenda aimed at benefitting the 30 million Americans with a rare disease.
International Sumaira Foundation Aims to Stop Frequent Misdiagnosis of NMOSD
Sumaira Ahmed, an advocate for patients with NMOSD, is featured in an episode of PBS-TV’s award-winning documentary series Medical Stories.
