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Baby Grace’s ‘extremely rare’ illness means she may never walk or talk

PUBLISHED: 05:30 13 January 2019 | UPDATED: 11:08 15 January 2019

Little Grace, who is 17 months old, is constantly in and out of hospital for tests Picture: SUPPLIED BY FAMILY

Little Grace, who is 17 months old, is constantly in and out of hospital for tests Picture: SUPPLIED BY FAMILY

SUPPLIED BY FAMILY

A baby girl from Essex with an extremely rare gene condition could be one of just 18 children in the world living with it, her family has revealed.

The youngster is thought to be one of only 18 people in the world with the gene mutation Picture: SUPPLIED BY FAMILYThe youngster is thought to be one of only 18 people in the world with the gene mutation Picture: SUPPLIED BY FAMILY

Little Grace, who is 16 months old, has a mutation of the gene RHOBTB2 – and may never walk or talk.

Doctors believe the youngster, from Marks Tey near Colchester, is potentially only the third person in the UK to develop it.

She suffers from seizures as a result, and her parents are having tests to see if it was hereditary and could affect future children.

Now, as a fundraising drive aimed at providing Grace with more intensive physiotherapy gains traction on social media, her father is speaking out to raise awareness.

The baby girl suffered a seizure in late January last year, which prompted a trip to Colchester Hospital's A&E Picture: SUPPLIED BY FAMILYThe baby girl suffered a seizure in late January last year, which prompted a trip to Colchester Hospital's A&E Picture: SUPPLIED BY FAMILY

Grace was born healthy in August 2017, but her family’s world was turned upside down when she was around six months old.

Her parents were shocked to find her having a seizure in her cot, and quickly raised the alarm.

“It was terrifying to see her like that,” said Grace’s father.

“We had no clue what was going on, and we dialled 999 – the paramedics were amazing and got her to Colchester A&E.”

Her parents were told Grace is potentially only the third person in the UK to have the rare gene mutation Picture: SUPPLIED BY FAMILYHer parents were told Grace is potentially only the third person in the UK to have the rare gene mutation Picture: SUPPLIED BY FAMILY

Once there, Grace was put in an induced coma to keep her stable while medics carried out tests.

But no-one had the answers – even after taking part in a four-week genetic programme at Addenbrooke’s Hospital in Cambridge – and the youngster was discharged in early February.

“From what I remember we were home for about 15 minutes before she had another seizure, so back to the hospital we went,” Grace’s father added.

After a brief stop at Colchester General, she was transferred to intensive care at St Mary’s Hospital in London.

A fundraising appeal has been launched to raise money for Grace's physiotherapy and ongoing care Picture: SUPPLIED BY FAMILYA fundraising appeal has been launched to raise money for Grace's physiotherapy and ongoing care Picture: SUPPLIED BY FAMILY

It was another four months before her parents received a diagnosis.

“We met a genetic specialist from Great Ormond Street who told us Grace had a mutation of a gene and that it was very rare,” her father said.

“We’ve joined a Facebook group which has been set up for families of children with that gene mutation, and she’s one of only about 18 children with it in the whole world.

“Because it’s so rare we don’t know what the future holds for her.

The youngster, who turns two later this year, has a rare genetic condition Picture: SUPPLIED BY FAMILYThe youngster, who turns two later this year, has a rare genetic condition Picture: SUPPLIED BY FAMILY

“None of the children affected have reached 16 yet, so we have no idea what will happen.”

Now a fundraising drive has been launched in Grace’s name, to support her future development.

So far, friends and family have raised more than £8,000 for her appeal.

To donate to Grace’s campaign, which is supported by the charity Tree of Hope, visit her fundraising page.

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