All Stories

Fran’s story: Living with hypermobility syndrome: it might not kill you but it can take your life away

Fran’s story of this autosomal dominant condition.

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Prader-Willi Syndrome: my son’s story

A complex condition caused by a chromosomal imbalance - Paula’s story.

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Turner Syndrome: Collette’s story

A condition caused by an X chromosome imbalance and its impact on a young woman.

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Telling the story of autism: my son’s experience

A condition with multifactorial aetiology - Alyce’s story.

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Bill’s story: Working with familial hypercholesterolaemia

A health professional’s experiences with this dominantly inherited

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Long QT: Jeff, a husband’s story

A dominantly inherited cardiac condition.videoexpert

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Brenda’s story: Supporting a diagnosis of Huntington disease

The realities of coping with a husband’s dominantly inherited

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Identifying families at risk of inherited high cholesterol (familial hypercholesterolaemia) - Lowri’s story.

A nurse talks about her involvement with this autosomal dominant condition as part of a pilot project to identify affected

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Annie’s story: having a child with fragile X

A mother’s mixed feeling about her son’s diagnosis

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Gail’s story: Caring for a child with Prader-Willi syndrome - a chromosomal condition

"Within a few hours we knew that there was something wrong"

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Turner syndrome is just a small part of who I am

Abi’s story: living with a condition caused by an X-chromosome imbalance

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We did not put limits or labels on him: Fragile X syndrome

Bethany’s account of the journey to diagnose her son’s X-linked dominantly inherited conditiontoolkit

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A mother’s struggle for support

Jasmin’s story to obtain support for her son Zane, who has a rare chromosome anomaly.

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The most important patient at the clinic: Ruby’s story

A mother’s account of her daughter’s Turner syndrome.

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Prompt referral is crucial!

Elaine’s work with families that have mucopolysaccharidoses.

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Audrey’s familial hypercholestoraemia

Audrey discusses her family history of this autosomal dominant condition and how it has been dealt with by her immediate family.

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