West Syndrome: “My son could cry 20 hours a day”
After months of constant crying and doctor visits to understand her baby's disorders, Cécile Decoatpont discovered that her son suffered ...
Read moreTag: rare sickness
Cowden’s disease: “Counting both breasts, I had over 70 tumors”
Sophie Da Mota Gomes, who suffers from a rare genetic condition called Cowden's disease and Ehlers-Danlos Hypermobile syndrome, opened up ...
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Alexandre had to wait 30 years to know the name of his illness
This Thursday, February 29 was International Rare Disease Day. For many of them, the diagnosis is long and difficult to ...
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What is Cushing’s syndrome that actress Amy Schumer suffers from?
American comedian Amy Schumer has been diagnosed with Cushing's syndrome, a rare hormonal condition caused by excess cortisol in the ...
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Rare disease: their baby was born without eyes
Last November, a baby girl was born without eyes in Missouri, due to a rare disease where fewer than 30 ...
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Where does “Alice in Wonderland Syndrome” come from?
Researchers have discovered the origins of “Alice in Wonderland syndrome”. THE ESSENTIAL The origins of “Alice in Wonderland Syndrome” have ...
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Charcot disease: 5 cases in the same street
Five people, living in the same street in Saint-Vaast-en-Chaussée (Somme), died from Charcot disease, a neurodegenerative pathology which affects around ...
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With skin as fragile as “the wings of a butterfly,” she goes through hell
Suffering from junctional epidermolysis bullosa, a young woman with skin as fragile as "the wings of a butterfly" experiences hell ...
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Suffering from a rare disease, her jaw and feet “wouldn’t stop growing”
An Australian woman suffered from strange symptoms for ten years. His feet and jaw were growing. Doctors identified the disease ...
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Hereditary transthyretin amyloidosis: what signs should alert you?
Hereditary transthyretin amyloidosis is a rare chronic disease. It is caused by abnormal protein deposits in organs or tissues and ...
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Rare diseases: RDK, a new application for faster diagnosis
A new French application and its website, called RDK®, offer new hope for the early diagnosis of rare diseases. Available ...
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Narcolepsy: an advance in treatment with hope for a cure
A new treatment to combat narcolepsy has shown encouraging results with a clear reduction in symptoms. THE ESSENTIAL A study ...
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Rabies: tracing the history of the disease to better understand it
A team of researchers has traced the evolution of rabies using an innovative method, thus offering new perspectives for understanding ...
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A new effective drug to treat Gaucher disease
The use of ambroxol could help treat Gaucher's disease which causes enlargement of the liver and spleen. THE ESSENTIAL Ambroxol, ...
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“Children of the moon”: a hope for better treatment of brain degeneration
The research brings hope for an early treatment of brain degeneration in 'moon children', suffering from a rare disease often ...
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Hypoparathyroidism: “The latest endocrine disease that has no hormone replacement”
It is a disease that would affect 16,000 people in France and more than 100,000 in Europe, 80% of whom ...
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Deja vu syndrome: this man is persuaded to relive the same day over and over again
A man has developed a rare syndrome that makes him feel like he's "been through it all". THE ESSENTIAL A ...
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Penile cancer: a first study on this very rare cancer has just been launched
Less than one case per 100,000 men is diagnosed each year in developed countries. THE ESSENTIAL Penile cancer is a ...
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“My son has an ultra-rare disease: the KCNB1 mutation”
Emile, 12, has a very rare genetic disease called the KCNB1 mutation. His mother Juliette Lacronique-Gugliermina confided in the medical ...
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Stiff person syndrome: Celine Dion is testing a new treatment
Celine Dion has started a new treatment to try to fight against the rare neurological disease, called stiff person syndrome, ...
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A rare disease transmitted by cats discovered in Great Britain
In Great Britain, three people were affected by a rare disease, sporotrichosis, whose contaminating fungus had been transmitted by a ...
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International Rare Disease Day: more than 3 million French people affected
This Tuesday, February 28 is International Rare Disease Day, an opportunity to take stock of this vast subject with Juliette ...
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Celine Dion announces she has ‘stiff person syndrome’
Celine Dion has stiff person syndrome, a neurological disease that affects the muscles. THE ESSENTIAL Celine Dion, born March 30, ...
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What is spinal muscular atrophy?
Spinal muscular atrophy is a rare, genetic and sometimes deadly disease. Depending on the type, it can affect fetuses, babies, ...
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“Allergic to gravity”: what is postural orthostatic tachycardia syndrome?
A young American testifies to the severe symptoms of her rare disease, such as tachycardia, and the significant impact on ...
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A baby is born with four arms and four legs
In India, a baby was born with four arms and four legs. It is viable. THE ESSENTIAL In January, another ...
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“Nobody believes me!”: Brad Pitt persuaded to have a rare disease related to the face
Brad Pitt is convinced to have a rare disease called "Prosopagnosia". It is related to the face. THE ESSENTIAL Prosopagnosia ...
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The daily challenge of Joanna, forced to stand for 30 years
The young woman suffers from muscular atrophy and a genetic disability that blocks her hip joints. THE ESSENTIAL 32-year-old woman ...
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Cloves syndrome (Elephant Man): a treatment approved by the American health authorities
Alpelisib, a drug used in the treatment of breast cancer, can now be prescribed to adult patients and children over ...
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A single DNA test can detect more than 50 genetic diseases
This new screening tool will drastically reduce the time it takes to diagnose certain genetic pathologies, such as Huntington's disease. ...
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