30 years of the GEM Appeal, a Rochdale-founded charity that has raised millions and changed the future for children with rare genetic conditions

Date published: 23 April 2024

The GEM Appeal marks 30 years of raising money and funding research into rare genetic conditions this year, after being founded in 1994 by its chair and Rochdale mum-of-three, Karen Johnson, who tragically lost both of her young sons to one such condition.

Karen’s sons, Simon and Mikey, were both born with Hunter syndrome – a rare inherited disorder which means certain sugar molecules can’t be broken down in their bodies.

Primarily affecting boys, children diagnosed with Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), suffer from various health problems caused by the build-up of these sugar molecules in organs and tissues.

The condition can vary in its severity with symptoms including rapid and progressive learning and memory problems, heart and lung dysfunction, hyperactivity and behavioural problems, bone and joint malformations and hearing impairment.

Eldest son Simon was diagnosed at 18 months of age when Karen, of Bamford, was about to give birth to Mikey.

Then, she was told there was no treatment, no cure and little research into the condition, which had a fifty-fifty chance of affecting her unborn son.

“I knew when I had Mikey that he also had the condition," Karen previously told Rochdale Online. “I was told they would definitely die when they were pre-teens, at around five or six years old.”

With no cure and no treatment available for the boys at the time, Simon and Mikey both tragically lost their lives at just 12-years-old after being robbed of the ability to walk, talk and eat, but the GEM Appeal has continued to grow in their memory, and today has raised over £3.5 million into researching conditions like Hunter’s.

The GEM Appeal (Genetics. Enzymes. Metabolics.) was set up after Karen was approached by Dr Ed Wraith, a consultant paediatrician who wished to extend the lab where he was researching the condition at Pendlebury Children’s Hospital in Manchester.

Karen raised £250,000 for the lab's extension, before raising a further £250,000 for a six-bed unit at the hospital’s Willink Unit, where the laboratory was named after Karen’s sons. The unit moved to Royal Manchester Children's Hospital where research progresses.

Karen even carried on fundraising when daughter Katie, Karen’s only child without the condition, was diagnosed with leukaemia at the age of four. Katie went on to receive a bone marrow transplant from her brother Mikey, who was a perfect match, and today is vice chair of the GEM Appeal.

Whilst a quest for a cure for Hunter syndrome continues, the money raised over the years has funded the purchase of vital medical equipment which has allowed for pioneering research to be carried out at the Willink Unit, meaning a diagnosis of a rare genetic condition no longer means a death sentence as it did for Simon and Mikey.

Research made possible by Karen and the GEM Appeal’s fundraising has allowed new life-changing treatments, such as enzyme replacement therapy, to be developed, reducing symptoms, avoiding further complications, extending life expectancy and giving better quality of life.

A 12-month research project to develop tests helping to diagnose and potentially treat Hunter syndrome and specialist medical equipment that can analyse blood samples for genetic disorders have also been funded.

Karen was presented with the Special Recognition Pride of Britain Award in 2016 for her dedication and the GEM Appeal received a Queen’s Award three years later.

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.

"If only Simon and Mikey were still here now."

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. The senior bio-scientist at the Willink Unit [at Royal Manchester Children’s Hospital], which was built by money raised by the GEM Appeal, has told us that it is an exciting time for developments in genetics.

"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.

“We just love what we do and we just want to make a difference."

To mark the charity's 30th anniversary, a full year of fundraising is planned with all the stops pulled out for the Diamond and Pearl summer ball at Rochdale Town Hall on 15 June, the annual Strawberry Sparkle ladies' luncheon on 21 August, and charity patron Denise Welch's annual charity ball.

The summer ball promises to be the showstopper local event with a sparkling drinks reception followed by a ‘dazzling’ dinner and glittering entertainment, before carriages at midnight.

Denise Welch’s annual star-studded event will follow an ABBA theme - 'Mamma Mia, Thank You for the Music' - and be hosted at Manchester’s Kimpton Clocktower Hotel on 30 November.

Karen will also be undertaking a sponsored 10k walk on 5 May and Wendy has signed up for the Manchester Half Marathon in October as well as the Great Manchester Run on 26 May.

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

For more information about each event, please visit the Rochdale Online events page.