All Stories

Living with Sickle Cell Disease, being an accredited Expert Patient Programme Facilitator and Regional Care Advisor for Sickle Cell Society

Mike’s story of this recessively inherited condition.

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Nobody's Fault - Achondroplasia

Maria’s experience as a mother caring for a child with this dominantly inherited condition.

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Gary’s story of living with chronic granulomatous disorder

A recessive X-linked condition that affects his immune system.

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At last we had a name: Philippa’s story

A mother’s account of her son’s chronic granulomatous disorder - an X-linked condition.

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Treat Rose as Rose, not a child with Costello

Kay’s account of her role as her daughter’s advocate

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Survivor’s guilt: Growing up with cystic fibrosis in the family

The need for information and support for siblings - Sally’s story.

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Meriel’s story: having a child with Down’s syndrome

Learning about the implications of a chromosome imbalance to a daughter’s

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An impact on the whole family, not just those who have it

A story from Linda, a mother of two children with ectodermal dysplasia.

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Mary’s story: My epilepsy

Living with the complexities of a multi-factorial condition.

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Living with facioscapulohumeral muscular dystrophy

Ben’s story of his struggle to obtain a diagnosis

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Family life with Tuberous Sclerosis: Karen’s story

A mother’s account of some of the challenges associated with this autosomal dominant condition.videoexpert

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Sian’s story: Living with Turner Syndrome

A young women’s account of a condition caused by a chromosomal imbalance.

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Syndrome Without A Name: A grandmother’s tale

A complex congenital condition with no definitive cause, Yvonne’s story.

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Graham’s story: Like father, like son?

Hypercholesterolaemia and a family history of heart disease.

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