Mum’s drive to raise awareness after her own battle with genetic condition

Emma and Richard on their wedding day. Photo credit: Charisma Photography Yorkshire
Emma and Richard on their wedding day. Photo credit: Charisma Photography Yorkshire

An Elland mum is organising a fundraising night for a charity which raises awareness of a genetic disorder called DiGeorge syndrome.

It’s a special cause for mum-of-two Emma Bloor as her late son Kyle was diagnosed with the condition and she later discovered she had also been living with it.

Children born with DiGeorge syndrome can often have heart defects, learning difficulties, a cleft palate and many other health problems.

In most cases, the symptoms result from a ‘genetic fault’ called a 22q11 deletion.

Emma’s story began 17 years ago, when she fell pregnant with Kyle.

At what should have been an exciting and happy time, Emma’s waters broke at 32 weeks and she was forced to have an emergency caesarean section.

Kyle was rushed to the special care unit at Calderdale Royal Hospital and after a week, she received the news that he had DiGeorge syndrome.

Emma, 41, said: “Kyle was too small for heart surgery. He was on a ventilator and we were told there was nothing more they could do.

“We had a second opinion, but the outcome was the same. We had Kyle christened and a few days later we all said goodbye - he was just three weeks old.

“Turning his ventilator off was the hardest thing I have ever had to do and I wouldn’t wish it on anyone.”

A few weeks later, Emma underwent a genetic test which confirmed she also had the syndrome, news which she found hard to take in.

She later suffered a miscarriage when she was 15 weeks pregnant, before going on to have her son Oliver, now nine.

At the time, Emma was a single parent and bringing up Oliver, who wasn’t born with DiGeorge, with the help of her mum.

But things began to look up when she reconnected with Richard Bloor - the man who was to become her husband.

Emma had been friends with Richard when they were younger, but as their lives took different paths they lost touch.

After meeting again four years ago, they have since got married and have gone on to have a baby, Gracie, three, together. Like Oliver, Gracie was not born with DiGeorge syndrome.

She said: “It’s lovely to have a little family. They keep me going. I have good days and bad days, but lovely friends and family keep me doing.

“My mum is my rock.”

DiGeorge can affect people in different ways and Emma suffers from severely low calcium levels, which she has to have checked every three weeks.

After her experience, Emma said she had always wanted to raise awareness for the Max Appeal, a charity which supports those affected by the syndrome and their families.

With help from Christine Watson, landlady at The Fleece, Elland, the mum-of-two hopes to do just that.

A fundraisng event will be held at the pub from 9pm this Saturday, February 18. Entry costs £5 per person and it will feature music, a raffle, blind auction and more.

Before that, a ‘Grand Valentine’s Dinner’ will be held from 7pm. Contact The Fleece on 01422 648353 for prices and menu choices.

For more information about the Max Appeal, visit www.maxappeal.org.uk