Summer 2024GEM Appeal marks 30 years of fundraising

The GEM Appeal is this year celebrating 30 years of fundraising and research into rare genetic conditions. Founded in 1994 by Karen Johnson, a mother-of-three who tragically lost both her young sons to rare genetic disorder Hunter syndrome, the charity has been a driving force in advancing support for families affected by this condition.

To mark the charity’s 30th anniversary, the Diamond and Pearl summer ball was held at Rochdale Town Hall on 15 June, which will be followed by the Strawberry Sparkle ladies’ luncheon on 21 August, and charity patron Denise Welch’s annual charity ball in November.

Karen’s sons, Simon and Mikey, were born with Hunter syndrome, a rare inherited disorder where specific sugar molecules cannot be properly broken down in the body.

The condition, also known as mucopolysaccharidosis type II (MPS II), predominantly affects boys and leads to a range of health issues due to the accumulation of these sugar molecules in organs and tissues.

Hunter syndrome can vary in its severity with symptoms including rapid and progressive learning and memory problems, and heart and lung dysfunction.

GEM Appeal trustee Wendy Mills said: “Treatments have been life-changing for many families with children with genetic conditions; reducing symptoms, avoiding further complications, extending life expectancy and giving better quality of life.”

She added: “The medical team at the hospital is optimistic about the future and is striving for more rare genetic diseases to be included in the newborn screening programme heel prick test.

“There is still a long way to go to find cures for these genetic disorders, but the GEM Appeal charity will do all it can to help get there. We want to continue to be with them every step of the way.”

For more information about the GEM Appeal, including how to donate, please visit www.gem-appeal.co.uk