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.

Read more ...

Nobody's Fault - Achondroplasia

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

Read more ...

Gary’s story of living with chronic granulomatous disorder

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

Read more ...

At last we had a name: Philippa’s story

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

Read more ...

Treat Rose as Rose, not a child with Costello

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

Read more ...

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

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

Read more ...

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

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

Read more ...

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

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

Read more ...

Mary’s story: My epilepsy

Living with the complexities of a multi-factorial condition.

Read more ...

Living with facioscapulohumeral muscular dystrophy

Ben’s story of his struggle to obtain a diagnosis

Read more ...

Family life with Tuberous Sclerosis: Karen’s story

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

Read more ...

Sian’s story: Living with Turner Syndrome

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

Read more ...

Syndrome Without A Name: A grandmother’s tale

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

Read more ...

Graham’s story: Like father, like son?

Hypercholesterolaemia and a family history of heart disease.

Read more ...

Text Search

Tell us your story

We are always looking for new stories to add to this site, and are particularly keen to hear from more practitioners. Your colleagues can learn so much from how you’ve dealt with situations which involved genetics.

Contact Us

Tell us what you think

Your feedback is important in helping us to enhance this website. Please take a moment to complete the brief questionnaire.

Questionnaire

Winners of the Association of Healthcare Communicators Best use of new media award 2009.
‘This was superb’ - Judge’s comment.

award

Betsi Cadwaladr Scholarship Foundation Joint Award Winners 2013.

Betsi Cadwaladr logo