'My girl can't walk or talk': Searching for answers in Wales' rare disease cluster

The article discusses a rare genetic disorder affecting several families in Wales. The disorder is characterized by an inability to walk or talk, and families affected have struggled to find information and support. The article highlights the story of one family, whose young daughter has been diagnosed with the condition. They describe the challenges of navigating the healthcare system and the lack of resources available to them. Experts believe the disorder may be more prevalent in the region due to a genetic founder effect, where a small isolated population leads to the spread of a rare genetic mutation. However, the exact cause and prevalence of the disease remain unclear. The families affected are calling for more research and support to be directed towards this rare condition. They express frustration at the lack of information and the feeling of being "alone" in their struggles. The article emphasizes the need for greater awareness and resources to support families dealing with rare genetic disorders, and the importance of ongoing research to uncover the underlying causes and potential treatments.
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