Rare Diseases

[DonnaBoll]

Rare diseases are conditions that affect fewer than 1 in 200,000 people. Here are some examples:

Genetic Disorders:

Cystic fibrosis, Huntington's disease, Muscular dystrophy, Ehlers-Danlos syndrome, and Gaucher disease.

Metabolic Disorders:

Pompe disease, Maple syrup urine disease, Fabry disease, and Sickle cell anemia.

Immunological Disorders:

Alagille syndrome, Progeria, Chronic granulomatous disease, Combined immune deficiency, and Primary biliary cholangitis.

Neurological Disorders:

Rett syndrome, Angelman syndrome, Friedreich's ataxia, ALS (amyotrophic lateral sclerosis), and Fibrodysplasia ossificans progressiva (FOP).

Endocrine Disorders:

Acromegaly, Gigantism, Dwarfism (e.g., achondroplasia), Hypothyroidism, and Hyperthyroidism.

Other Rare Diseases:

Ehlers-Danlos syndrome, Alport syndrome, Marfan syndrome, Macular degeneration, and Lyme disease.

It's important to note that this is not an exhaustive list, and there are many other rare diseases. The rarity of these conditions can make diagnosis and treatment challenging.

Muscular dystrophy. * Neuromuscular disease. * Pediatric dystonia. * Pediatric neurofibromatosis. * Primary ciliary dyskinesia.

While I'm sure many of us have never heard of most of these (except PBC, of course) think how frustrating it must be for those few who do have any of these conditions. Little help or information for them I would imagine. To them, though, it is their world.

[nan1012]

I think you meant a disease that affects less than 200,000 people in the United States. Or 1 in 2,000.

[DonnaBoll Administrator in reply to nan1012]

I think the article did state " fewer than 1 in every 200,000". Unfortunately, all of us are in that group.