A condition so rare it doesn’t have a name...

Keri MacNicol who is helping front the Jeans for Genes campaign
Keri MacNicol who is helping front the Jeans for Genes campaign

A little Burntisland girl with an extremely rare condition is helping to raise awareness of children’s genetic disorders.

Six-year-old Keri MacNicol, whose condition is so rare it doesn’t have a name and is called 1p21.3p21.2 microdeletion, is helping Genetic Disorders UK in its annual fundraiser, Jeans for Genes Day, tomorrow (Friday).

When Keri joined a highland dance class aged four, her teachers were puzzled that she couldn’t hop across the room.

“I had to explain to the teachers why she couldn’t and how Keri has to learn everything that might otherwise come naturally to other children,” explained her mum, Gillian (38).

To others Keri is just like any other little girl, but she faces daily challenges due to the chromosome disorder which means that she has no 3D vision, affecting her spatial awareness and balance; low muscle tone, making basic physical activities difficult; and tires easily.

Although Keri has to learn new skills in a different way to her peers, she enjoys company.

“Keri is an incredibly loving little girl and a lovely person and has lots of friends,” said Gillian.

Gillian, a technology manager, and Neil (40), a business analyst, were concerned that there was something wrong with their daughter when she was a baby. But it took two years to get a diagnosis due to the rarity of her condition.

“I suspected there was something wrong when she was nine months, because having an older child I knew she wasn’t developing in quite the same way.”

The MacNicols finally got the answers they were looking for just before Keri’s third birthday when she was referred to a geneticist and diagnosed with the rare chromosome disorder.

Keri’s condition means that although she looks the same as her peers, she can’t walk, run or play like them.

“She’s unsteady on her feet, especially on stairs,” said Gillian. “She doesn’t run around like a normal child would because she can’t assess her area as well, she also tires faster.”

The past few years have been challenging for the family, but they say they’ve received great support in the town, particularly from Burntisland Primary School which Keri attends.

Valuable help has also come from Unique, a UK charity for those affected by rare chromosome disorders. The charity has a Facebook group where Gillian and Neil can talk to others affected by similar conditions.

“I feel I can talk to them about things I can’t talk to other mothers about. It’s good to have those people to lean on,” explained Gillian.

Unique is a Jeans for Genes Day grant charity and will receive £25,000 to help fund its conferences. To take part or find out more, visit www.jeansforgenesday.org.