Gemma Stubbings

Gemma Stubbings

Trustee

Posted On: 07/07/2026 Recently Posted!

Gemma started noticing symptoms for Pompe Disease aged 13, was diagnosed aged 31 and started ERT via a trial.

She was a patient expert speaker when NICE were appraising the drug she trialled and this was later licensed in the UK.

Gemma was diagnosed with a rare disease called Usher Syndrome, a form of deaf blindness, in 2012 and was registered severely sight impaired (blind) in 2018. Double rare - currently she is the only known person with both rare diseases globally.

Gemma works full time managing a local business, has a supportive husband, 2 adult sons and a grandson. Being a support to newly diagnosed patients is something Gemma feels she was put on earth to do. Gemma feels that keeping spirits high, being positive and hopeful helps to navigate this journey we are all on.

She believes that it is essential for her to raise awareness through public speaking to enable our community to grow together.