Hethersett Youngster one in 400 people with KBG syndrome

Released:
7:00 a.m. February 17, 2022



Eva Jones shares many of the same qualities as any other nine year old – she loves being with her friends, playing computer games and being outdoors.

But there’s one thing about the Hethersett boy that she shares with only around 400 other people worldwide — an incredibly rare genetic condition called KBG syndrome.

The disease, named after the initials of the family where it was first discovered, is thought to affect just one in 19 million people, with just about 400 confirmed cases worldwide.


Nine-year-old Eva, who suffers from a rare disease called KBG. Images: Brittany Woodman
– Credit: Brittany Woodman

And while her family knew something was wrong with her, it wasn’t until a few weeks ago that her parents finally got the answer they’d been looking for for years.

From the moment her mum Gemma went for a 20 week pregnancy scan, it was clear something was different about her daughter as the scan discovered an extra finger on each of her hands.

It was suspected that she might have Down syndrome, but tests for the condition never came back positive.

But the differences between Eva and her twin brother Ace made it clear that something was wrong with her.


Nine-year-old Eva, who suffers from a rare disease called KBG.  Eva with her siblings Poppy and Ace.  image

Nine-year-old Eva, who suffers from a rare disease called KBG. Eva with her siblings Poppy and Ace. Images: Brittany Woodman
– Credit: Brittany Woodman

By day two of her life, doctors found she had a heart murmur – while Ace was perfectly healthy and unaffected. When she was 10 months old, she underwent heart surgery to fix this.

And in the years that followed, Eva endured more difficulties, regularly suffered from migraines and lethargy. She also has poor eyesight and hearing and is developing much more slowly than children her age.

For years her family fought to get a diagnosis and in early 2020 she was sent to Addenbrooke’s in Cambridge for blood tests to finally find out what had caused her problems. The answer came two years later.


Nine-year-old Eva, who suffers from a rare disease called KBG.  Eva with her family, brother Ace, mom Gemma,

Nine-year-old Eva, who suffers from a rare disease called KBG. Eva with her family, brother Ace, mum Gemma, dad Neil and sister Poppy. Images: Brittany Woodman
– Credit: Brittany Woodman

Ms Jones, who also has a 17-year-old stepdaughter named Poppy, said: “We had always known she had some kind of condition and that it was genetic, but when we found out how rare it was it was a huge shock. To hear that your child has something that only 400 people in a world of 7 billion people have is just amazing.

“However, knowing what it is has allowed us to research it, find support groups and learn more about what their lives will be like.”

Ms Jones said the condition meant Eva would likely never be able to live fully independently and any children she have had a 50/50 chance of also being born with KBG syndrome.

But she said the condition didn’t hinder Eva and didn’t stop her from growing into a happy, kind girl.

He said: “She’s a tough cookie who’s taken on so much. She loves being with her friends and recently even tried parkour which she absolutely loved.

“However, the chances of her living an independent life are very slim and we know that regular high school would not be right for her, so we made the decision to homeschool her. However, she is already independent in some aspects of her life – she keeps surprising us.”


Nine-year-old Eva, who suffers from a rare disease called KBG.  Eva with her family, brother Ace, mom Gemma,

Nine-year-old Eva, who suffers from a rare disease called KBG. Eva with her family, brother Ace, mum Gemma, dad Neil and sister Poppy. Images: Brittany Woodman
– Credit: Brittany Woodman

But for Ms Jones and her husband Neil, finally knowing what to do with the family is a huge help.

She said: “It’s really bittersweet. Of course you want to find out that everything is fine and clear, but we knew that wasn’t going to be the case. We were aware that something was wrong, but now we have something that we can call we know how to deal with.

“My message to all parents is to persevere – you know your children best and when you know something is wrong with them, don’t stop looking for those answers.

“We knew there was something wrong with Eva, but if we hadn’t pursued it further, we would never have found it.

“We just want to spread the message to keep fighting for what you know is right.”

About Ellen Lewandowski

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