Rare Disease Day
Latest
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Hard cases: Investigating rare & tough diseases
Dr. William Gahl is one of the last, best hopes for people suffering from rare, debilitating, and undiagnosed medical conditions. Lara Logan reports.
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Stop FOP: Man's rare disease turns muscle to bone
20-year-old college student raises awareness for rare disease with only 800 confirmed cases worldwide
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The battle to research rare diseases
Incentives have encouraged rare disease research but lack of funding, high cost of medication provide challenges
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Meet Brenna, a baby with Harlequin Ichthyosis
Brenna has Harlequin Ichthyosis, a rare skin disease that causes the skin to grow in diamond-shaped plates
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Rare Disease Day: Handprints across America
An estimated 30 million Americans suffer from one of 7,000 rare diseases, many of which can't be treated
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Hard cases: Investigating rare & tough diseases
Dr. William Gahl is one of the last, best hopes for people suffering from rare, debilitating, and undiagnosed medical conditions
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Rare Disease Day spotlights need for treatments
National Organization for Rare Disorders was founded in 1983 along with Orphan Drug Act - has progress been made?
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Doctors plug unstoppable nosebleed with cured pork
Girl had rare blood disorder Glanzmann's thrombasthenia, so do not try at home
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6-year-old girl saved by rare organ transplant
Angela Bushi was diagnosed with rare Wolcott-Rallison Syndrome, needed pancreas, liver, and two kidneys to survive
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"Bucket List" baby Avery Canahuati dies
5-month old girl's family started Avery's Bucket List blog to spread awareness about rare disease, spinal muscular atrophy
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7-year-old Colorado girl contracts bubonic plague
About 7 cases of plague, which is transmitted to humans through infected fleas or bites from infected animals, are reported in the U.S. annually
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3-D printer gives use of arms to 4-year-old
Girl had rare condition that causes abnormal development of muscles and was unable to use her arms
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First treatment for progeria shows promise
Patients in study had improved cardiovascular health and were able to gain weight, two problems associated with the disease
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17-year-old Pa. woman battles "Sleeping Beauty Syndrome"
Nicole Delien diagnosed with Kleine-Levein Syndrome; She once slept 64 days from Thanksgiving through January
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Former model with rare growth disease dies
Acromegaly is a disorder in which there is too much growth hormone in the body
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Rare disease or fake illness?
Dr. William Gahl, director of the Undiagnosed Diseases Program at the National Institutes of Health, explains why mysterious ailments are sometimes mistaken for hypochondria.
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Dad's death shines light on rare Loeys-Dietz syndrome
Dad's death from rare heart condition, Loeys-Dietz syndrome, led to a diagnosis of the disease in his twin daughters
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Man without legs climbs Mt. Kilimanjaro
Climber Spencer West was born with sacral agenesis, a rare condition in which the lower spine, pelvis don't form properly at the time of birth
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Clara's journey: 9-year-old with deformed face navigates the world
Clara Beatty was born with rare genetic mutation called Treacher Collins syndrome, causing deformed face
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Amelia Rivera, 3, in struggle for kidney transplant over disability
Controversy sparked in January when Riveras said prominent hospital denied daughter kidney transplant because of disability
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World's friendliest kids? Gene disorder means extreme sociability
Williams syndrome has been likened to having "joy gene," but what's life been like for Williams patient Ben Monkaba?
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Proteus syndrome: The Elephant Man and beyond
Up close and personal with disorder that can be as disfiguring as it is rare
Highlights
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Stop FOP: Student raises awareness for incurable disease that turns his muscle to bone
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Challenges abound as researchers search for rare disease treatments
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Meet Brenna, a baby with Harlequin Ichthyosis
29Photos 
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Rare Disease Day: Handprints across America
16Photos 
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Hard cases: Investigating rare & tough diseases
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