The video clips below feature individuals who participated in the 2016 Rare Disease Day at NIH event and shared their stories of living with a rare disease. Hear rare disease patients and caregivers talk about the challenges they face and how NIH’s collaborative research efforts offer hope.
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Jillian Clegg shares the story of her two sons, who have MED23 gene defect Jillian Clegg has two sons with MED23 gene defect, a condition that causes intellectual disability and affects the neuromotor system. |
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Rachel Daniels describes what life is like for her daughter with congenital generalized lipodystrophy Rachel Daniels’ daughter Alani has congenital generalized lipodystrophy. Alani’s body is unable to store fat under her skin, and any fat she does take in can connect to organs such as the heart and liver, causing health complications. |
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Marcela Ferrada shares her story of living with relapsing polychondritis Marcela Ferrada was diagnosed with an autoimmune disease called relapsing polychondritis, a rare degenerative disease characterized by recurrent inflammation of the cartilage in the body. Deterioration of the cartilage may affect any part of the body where cartilage is present. The ears, larynx and trachea may become “floppy,” and the bridge of the nose can collapse into a "saddlenose" shape. The aortic heart valve may also be affected. |
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Michael and Rachel Harris discuss their son’s life with Vici syndrome Michael and Rachel Harris’s son has Vici syndrome, a multisystem congenital disorder characterized by agenesis (failure to develop) of the part of the brain called the corpus callosum. Symptoms can include cataracts, hypopigmentation of the eyes and hair, cardiomyopathy and combined immunodeficiency. |
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Jessica McQuillen discusses her life with hereditary hemorrhagic telangiectasia (HHT) Jessica McQuillen has a condition called HHT that causes massive nosebleeds and can cause bleeding elsewhere in the body. |
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Joe Murray shares his daughter’s experience with epidermolysis bullosa (EB) Joe Murray’s daughter is affected by a connective tissue disorder called EB that causes the skin to be very fragile. The slightest friction can cause open blisters, wounds and chronic pain. |
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Megan O’Boyle tells the story of her daughter, who has Phelan-McDermid syndrome Megan O’Boyle’s daughter Shannon O’Boyle suffers from Phelan-McDermid syndrome, a rare condition that can cause autism, epilepsy and intellectual disabilities. |
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Jennifer Payne discusses living with phenylketonuria (PKU) Jennifer Payne discusses living with PKU, a liver enzyme deficiency caused by the inability to metabolize an essential amino acid called phenylalanine. Left untreated, PKU results in psychological disorders, neurological deterioration, mental illness and brain damage. |
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Stephanie Perron shares the story of her son’s life with a mitochondrial disease Stephanie Perron’s son, Teddy, has been diagnosed with MELAS (mitochondrial disease complex 3 with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome that affects many of the body’s systems, particularly the nervous system and muscles. |
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Suzanne Ripley discusses what life is like for her two sons, who have glutathione synthetase disorder Suzanne Ripley has two sons who suffer from an ultra-rare condition, glutathione synthetase disorder, which is a deficiency of the enzyme glutathione synthetase. The severe form of the disease can affect infants, causing progressive neurological symptoms, such as impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation), varying degrees of intellectual disability, seizures and diminished coordination of voluntary movements. |