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Winter 2019GEM Appeal celebrates 25 years of fundraising

Karen Johnson, founder of the GEM Appeal charity, is celebrating 25 years of fundraising in 2019.

Founded in 1994 after Karen’s sons, Simon and Mikey, were diagnosed with Hunter Syndrome, the GEM Appeal (‘Genetics. Enzymes. Metabolics.’) raises money to fund research and find cures for genetic diseases.

25 years ago, Karen, who lives in Bamford, was told that her 18-month-old son had Hunter Syndrome, a rare genetic disorder that causes abnormalities in organs due to deficiencies of the enzyme iduronate-2-sulfatase (I2S), located on the X chromosome.

Then, 8 months pregnant with her second boy, Karen was told that there was a 50% chance that he would have Hunter Syndrome too.

Karen said: “At that time, there was no treatment and no hope for children diagnosed with rare genetic disorders, and very little research was being done to change the chances of survival.

“I wanted to fund research and find a cure; I certainly wasn’t just going to sit around and accept that my children were dying.”

Karen was approached by Consultant Paediatrician Dr Ed Wraith with a request for money to be raised to extend the Willink Unit at the Royal Manchester Children’s Hospital, which would be a base for research into the disorder that her two sons were dying from, as well as other genetic disorders that were prematurely ending many young lives.

“With the help of the people of Rochdale, £250,000 was raised in the GEM Appeal’s first year”, Karen said.

“This was the start of our major fundraising.”

As the years went by, the GEM Appeal grew to have 11 trustees and 16 committee members who are mainly Rochdale based. They became the strength and drive for the amazing success that the GEM Appeal has become today.

Karen even continued fundraising when her healthy third child, Katie, was diagnosed with leukaemia and given six weeks to live.

“I had all three of my children potentially dying at the same time,” she said.

“When Katie was seven, she relapsed and couldn’t tolerate the chemotherapy anymore. She received a bone marrow transplant from Mikey, who was a perfect match for her.

“Now a healthy 29-year-old, Katie is engaged and is living a happy life. She is the only known person to have had a bone marrow transplant from someone with Hunter Syndrome.”

Tragically, both Karen’s sons lost their lives to the incurable disease at the age of 12.

“Simon and Mikey were born 18 months apart, and they died 18 months apart,” she continued.

“I focused all of my anger and grief on fundraising for research and treatment, so my boys’ story could help others and change the future for those with genetic disorders.

“My dream is that when my daughter decides to have a child, and it might have Hunter Syndrome, that it will be a given that they can be healthy and live a long life, as there is now a degree of treatment available.”

All the money raised by the GEM Appeal has gone, and is still going, towards purchasing diagnostic equipment to enable the doctors and scientists at the Willink Unit to research, diagnose and treat children and young people with rare genetic and metabolic disorders which were previously incurable.

Because of the money raised by the charity, children are now living longer healthier lives and the future is more positive for those diagnosed.

Trials of enzyme replacement therapy treatment, which Simon and Mikey needed, are also now available with promising results.

In 2016, Karen accepted a Special Recognition Pride of Britain Award from Take That’s Gary Barlow, Howard Donald and Mark Owen for her dedication to raising funds.

More recently in September 2019, the GEM Appeal was presented with a Queen’s Award for Voluntary Service - the highest award a voluntary group can receive in the UK. Karen said: “We are very honoured to receive this accolade.

“As a charity, we are very fortunate in that we have local businesses and people who continue to support us; for example, Lloyds Bank allow us to have charity buckets and Barclays match our funds at certain events.

“The bulk of the money we have raised is by Rochdale people and businesses, with every penny going into research and equipment.”

Karen took part in the Rochdale 10k in October with her daughter Katie and GEM Appeal trustee Wendy Mills to raise money for the charity.

Additionally, Denise Welch hosted the charity’s 18th annual winter ball at Principle Manchester in November. A ‘Strawberry Sparkle’ fundraiser is also held yearly at Nutters Restaurant near Karen’s birthday, which is always a sell-out.

The GEM Appeal is currently raising money to buy a Tecan machine for Manchester Children’s Hospital at a cost of £175,000. At the time of publication, £82,569.48 has been raised for the equipment, which will prepare and arrange blood samples for DNA analysis, enabling the specialist staff at the Willink Unit to concentrate on more complex tasks.

Run entirely by volunteers in their spare time, with no government or lottery funding, the GEM Appeal has raised over £3million to date.