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
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.
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.
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.”
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.
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.
“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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