Standardized Sedation Protocol Enables Safe MRI in Children With Achondroplasia
-
Pioneering Case Illustrates the Promise of Personalized Gene Editing for Rare DiseasesKJ Muldoon has been achieving developmental milestones, but his long-term prognosis is unknown. -
Vasculitis Awareness Month Highlights Advances in Treatment and Ongoing ObstaclesThe nonprofit Vasculitis Foundation advocates for patients with 1 or more of the 20-plus subtypes of the disease. -
A Kansas Man’s Lifelong Struggle With Limb-Girdle Muscular DystrophyDutch filmmaker Daimon Xanthopoulos recently produced a 25-minute documentary about Donavon Decker’s life and relationships. -
Regional Pockets of HAE Persist Due to Founder Effect, Affecting Generations of FamiliesHAE affects approximately 1 in 50,000 people globally, but is far more prevalent in a few select geographic regions. -
New Prader-Willi Therapy Gives Parents Rare Hope for Managing HyperphagiaDiazoxide choline is believed to activate the ATP-sensitive potassium channel, which may decrease secretion of peptides that regulate appetite.
-
An AATD Liver Transplant StoryThe story about a young boy with alpha-1 antitrypsin deficiency (AATD) who received a liver transplant fills me with hope.May 30, 2025 -
After 3 Years and Mounting Health Issues, My NMO Diagnosis Was Finally ConfirmedRead about the 3-year-long journey of a patient who experienced worsening physical setbacks before a final diagnosis of NMO was made.May 30, 2025
-
Time for an MS Medication ChangeSometimes patients with multiple sclerosis (MS) need to consider changing to a new medication or adding to their treatment.May 29, 2025 -
Living With AATD Gets Tougher During Allergy SeasonAs someone with alpha-1 antitrypsin deficiency (AATD), I need to be vigilant during allergy season.May 29, 2025
-
The Importance of International Consensus Guidelines in the Management of AchondroplasiaInternational consensus guidelines are highly valuable in ensuring that the care of patients with achondroplasia is optimized. -
Are Mobile Apps Ripe for Usage in Telehealth Monitoring of CIDP?Clinical researchers are increasingly turning to mobile apps to monitor health in patients with chronic diseases. -
Efforts to Improve Quality of Life in PNH: Are We Moving Fast Enough?Overall, patients with PNH struggle with a notable reduction in quality of life, revealing a significant clinical unmet need. -
The Unseen Toll of FNAIT on MothersThe maternal burden of FNAIT is often overlooked, and new research into patient-related outcomes is needed. -
Timing of Treatment Initiation Key to Improving Outcomes in CIDPStudies show that the initiation of treatment within a year of symptom onset in CIDP can significantly improve outcomes.
- Achondroplasia
- Acute Lymphoblastic Leukemia
- Alagille Syndrome
- Alpha-1 Antitrypsin Deficiency
- ANCA-Associated Vasculitis
- Cholangiocarcinoma
- Chronic Inflammatory Demyelinating Polyneuropathy
- Chronic Lymphocytic Leukemia
- Cold Agglutinin Disease
- Cystic Fibrosis
- Diffuse Large B-Cell Lymphoma
- Dravet Syndrome
- Duchenne Muscular Dystrophy
- Fabry Disease
- Fetal and Neonatal Alloimmune Thrombocytopenia
- Friedreich Ataxia
- Gastrointestinal Stromal Tumor
- Gaucher Disease
- Generalized Pustular Psoriasis
- Hemolytic Disease of the Fetus and Newborn
- Hemophilia
- Hepatocellular Carcinoma
- Hereditary Angioedema
- Huntington Disease
- Idiopathic Pulmonary Fibrosis
- IgG4-Related Disease
- Immune Thrombocytopenia
- Lennox-Gastaut Syndrome
- Long Chain Fatty Acid Oxidation Disorder
- Lysosomal Acid Lipase Deficiency
- Medullary Thyroid Carcinoma
- Multiple Sclerosis
- Myasthenia Gravis
- Myelodysplastic Syndromes
- Myelofibrosis
- Neuromyelitis Optica Spectrum Disorder
- Paroxysmal Nocturnal Hemoglobinuria
- Pompe Disease
- Prader-Willi Syndrome
- Primary Biliary Cholangitis
- Primary Central Nervous System Lymphoma
- Pulmonary Arterial Hypertension
- Sickle Cell Disease
- Spinal Muscular Atrophy
- Systemic Mastocytosis
- Systemic Sclerosis
- Thymidine Kinase 2 Deficiency
- Transthyretin Amyloid Polyneuropathy
- Transthyretin-Mediated Amyloid Cardiomyopathy
- Wilson Disease
