disease

Spinal Muscular Atrophy (SMA): From Death Sentence to Treatable Condition

When 2-month-old Naina’s parents noticed she couldn’t lift her head, seemed unusually weak and floppy, and had difficulty swallowing, genetic…

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Pompe Disease: When Glycogen Storage Goes Wrong in the Muscles

When 2-month-old Vikram developed feeding difficulties, seemed unusually weak and floppy, and his pediatrician detected an enlarged heart on examination,…

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Maple Syrup Urine Disease: The Metabolic Disorder Named for Its Distinctive Smell

When 3-day-old baby Kavita became increasingly lethargic and refused to feed, her alert pediatrician noticed her urine, earwax, and sweat…

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Fragile X Syndrome: The Most Common Inherited Cause of Intellectual Disability

When 4-year-old Rohan’s parents brought him to a developmental specialist concerned about his severe speech delays, hyperactivity, hand-flapping, and tendency…

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Rett Syndrome: The Neurological Condition That Primarily Affects Girls

When 18-month-old Naina suddenly stopped using the words she’d learned, lost interest in toys she previously loved, and began repetitive…

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Angelman Syndrome: The ‘Happy Puppet’ Disorder and Why That Name Is Outdated

When 2-year-old Diya’s parents brought her to a neurologist concerned that she still wasn’t speaking, walked with a stiff, jerky…

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Prader-Willi Syndrome: Understanding This Complex Genetic Disorder

When 2-year-old Aarav suddenly transitioned from being a “failure to thrive” infant with severe muscle weakness and feeding difficulties requiring…

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Alpha-1 Antitrypsin Deficiency: The Lung and Liver Disease You May Have Never Heard Of

When 42-year-old Kavita developed severe shortness of breath and was diagnosed with COPD despite never smoking a cigarette in her…

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Hemochromatosis: The Iron Overload Disease Most People Don’t Know They Have

When 45-year-old Vikram visited his doctor complaining of chronic fatigue, joint pain in his hands, and a “bronze” skin tone…

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Wilson’s Disease: When Copper Accumulates and Poisons the Body

When 19-year-old Meera started experiencing tremors in her hands that made writing difficult, along with slurred speech and unexplained personality…

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Niemann-Pick Disease: What Happens When Lipid Metabolism Fails

When 18-month-old Rohan started losing developmental milestones he’d already achieved—no longer reaching for toys, losing the ability to sit up…

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Gaucher Disease: The Most Common Lysosomal Storage Disorder Explained

When 32-year-old Priya visited her doctor complaining of constant fatigue, a swollen abdomen that made her look six months pregnant,…

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Fabry Disease: The Lysosomal Storage Disorder Misdiagnosed for Decades

When 28-year-old Arjun spent his entire childhood and teenage years visiting doctors for excruciating burning pain in his hands and…

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Systemic Mastocytosis: When Mast Cells Accumulate in Places They Shouldn’t

When 42-year-old Ramesh experienced repeated episodes of sudden skin flushing, racing heartbeat, severe abdominal cramping, and dizziness over several months,…

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Ehlers-Danlos Syndrome: The Hypermobility Condition That’s Frequently Missed

When 24-year-old Sneha visited her fifth doctor in three years complaining of constant joint pain, frequent dislocations, exhausting fatigue, and…

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