'My girl can't walk or talk': Searching for answers in Wales' rare disease cluster
Summary
In South Wales, a cluster of people, including Jessica Cowley, are affected by a rare genetic disease called DRPLA, which impacts muscle control, memory, and personality. DRPLA, once thought to mostly affect Japanese people, has now been found more commonly in Wales. Families affected struggle with the disease as there is no treatment or cure available.Key Facts
- Jessica Cowley, affected by DRPLA, cannot walk or talk and uses a wheelchair.
- DRPLA is a genetic disorder with symptoms like memory loss, muscle spasms, and seizures.
- The disorder is rare in the UK but found in clusters in South Wales.
- A 2007 study noted a high number of cases in Wales due to common genetic ancestors.
- DRPLA is inherited and has a 50% chance of being passed to children.
- Rachel Cowley joined a Facebook group to connect with other affected families.
- Zoe Hoes spent about £2,000 on a private test for her daughter, which many cannot afford.
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