Tabithas story

Tabitha is five years old and lives with her family in Devon. Concerned about certain symptoms she shared with her father, Gawain, her parents spoke to their GP, who referred them to the clinical genetics service at the Royal Devon.
Following an appointment, Tabitha had a blood sample taken for genetic testing. The results showed a change in one copy of her WNT10A gene, leading to a diagnosis of mild ectodermal dysplasia—a rare condition that affects the development of the skin, teeth, nails, and sweat glands.

Further testing confirmed that Gawain had the same genetic change and diagnosis, helping to explain some of the characteristics they both shared.

The family say having a diagnosis has helped them understand the condition and how best to manage it. They now have access to specialist advice on skin care, and guidance on how to manage any future health concerns. It has also helped them connect with support networks and resources for families affected by ectodermal dysplasia.

Tabitha’s brother and sister were also tested and found not to have the same genetic change, providing further reassurance.