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Daily Mirror
Daily Mirror
National
Anita Merritt & Alahna Kindred

Mum's joy as son who was first in UK with rare genetic condition is set to marry

A mum has shared her joy as her son with a rare condition is going to get married.

Davey Shield, now 34, was the first person in the UK to be diagnosed with KBG Syndrome at Great Ormond Street children's hospital.

There are only 240 known cases worldwide of the rare genetic disorder.

Davey has learning disabilities as well as various complex health issues including spine curvature, bowel disease, osteoporosis and mild autism.

He wasn't diagnosed until he was six and at the time there was very little information available about what kind of future they could expect for him, DevonLive reports.

Davey Shield was the first person in the UK to be diagnosed with KBG Syndrome (Jean Shield WS)

Due to his disabilities, Davey, who attended Pathfield Special School in Pilton, Barnstaple, didn't speak until he was six years old and learnt sign language.

His mobility was also delayed and he didn't start walking until he was three.

His mum Jean recalled: "We were told the future looked bleak but I had to keep believing he would one day be able to help himself and lead a good life.

"With my continued support, he moved into a rented house in Torrington seven years ago and has a support package from social services so he cooks, cleans and looks after his home.

Davey has learning disabilities as well as various complex health issues including spine curvature, bowel disease, osteoporosis and mild autism (Jean Shield WS)

"He also has a little pet dog - his pride and joy - called Jim. Not only has Davey gone above and beyond what the doctors predicted, he met a beautiful young lady, who also has special needs, 12 years ago at a disco for adults with learning disabilities.

"They so very much wanted to be together and to be married. It's a massive step for anybody and I was determined this would happen."

On April 20, Davey will marry his fiancée Sarah at Bickleigh Castle in Tiverton.

Thanks to the generosity of family, friends and strangers - a bouquet for the bride from florist Amanda Huxtable, bridesmaid dresses, wedding cake from The Binge Box, table decorations and even a horse and carriage provided by Equus Carriages.

Jean, a mother-of-three, said: "Sarah has no family contact so she has had to rely on myself, dear friends and strangers offering support to organise making this wedding really happen.

"It all started when I put a post on Facebook asking if anyone knew of someone local who had a horse and carriage for Sarah. We never asked for anything; people just came forward and offered.

"One of their support workers made them a wedding sweet cart in his own time for their wedding. So many others have made things too such as a post box.

"Sarah is arriving in a horse and carriage donated for the day, and Davey is arriving in a reliant Robin replica of his favourite TV comedy Only Fools and Horses. They adore music, especially their number one is Ed Sheeran, and that is why their first dance will be to Perfect.

"There will be 40 people attending the wedding, including six bridesmaids and two best men. The day is going to be one to be remembered. It will be magical and there won't be a dry eye in the building. To be where they are today shows what an inspiration they are and we are so proud of them.

"Davey and Sarah, and their dog, are well-known faces where they happily live with daily support workers visiting them. They are the most beautiful human beings.

"They ask for nothing and they love being in their home. They leave a mark on everyone they meet and are a constant joy."

KBG syndrome is characterised by short stature, dental abnormalities, developmental abnormalities of the limbs, bones of the spine, extremities, and/ or underdevelopment of the bones of the skeleton. Abnormalities of the head and face may also be present.

Most individuals have some degree of developmental delay or intellectual disability. The level of intellectual disability is usually mild. The specific symptoms may vary from one person to another. KBG syndrome is caused by a change in the ANKRD11 gene or a loss of genetic material on chromosome 16q that involves the ANKRD11 gene.

Mutations of this gene can occur spontaneously with no family history, or be inherited in an autosomal dominant manner. KBG syndrome is named after the initials of the last names of the first three families identified with this disorder in the medical literature in 1975.

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