Thursday, August 18, 2016

Biotinidase deficiency

A young family will celebrate their very own Christmas miracle tomorrow - with their little baby girl who came back from the brink of death.

Just five months ago devastated Francesca, 41, and husband Lee Moore-Williams, 44, watched as their baby daughter took what they thought was her last breath.

They took one last photograph, and wept as one-year-old Bella lay sedated in a hospital's intensive care unit and her life-supporting ventilator was turned off.

But incredibly just 30 minutes later, the toddler, who doctors had given up for dead, began to improve and soon she began kicking and screaming.

Tomorrow, after a recovery which has stunned her parents and medics, little Bella will celebrate Christmas Day at home with her family at Clacton-on-Sea, Essex.

Delighted mother-of-two Mrs Moore-Williams said: 'It's just amazing. It's like we have won the lottery. She made our family complete and it now it's great to see how well she is doing.
'When she says "mama" it melts my heart.'

Bella's parents first became concerned about their daughter's heath when she started losing clumps of hair at just 14 months of age in April.

She couldn't sit up properly in her high chair and would slump but hospital tests failed to find a reason why.

Doctors believed she may have had asthma and Bella was prescribed an inhaler as she also suffered from chest infections.

But just three months later in July, while the family were on holiday in Gran Canaria, Bella took a turn for the worse. Throughout the entire holiday she clung on to her mum as her energy levels dropped.

The day after the family landed back home they took Bella to the family doctors who submitted her to Colchester Hospital, Essex.

By lunch time they had performed a test on her legs which showed they were 'depressed' and had no movement.

She was drifting in and out of consciousness as she didn't have the energy to stay awake so she was put on a ventilator and transferred to Addenbrooke's Hospital in Cambridge.

Bella was admitted to intensive care and an MRI scan showed severe abnormalities across both sides of her brain.

The family were told that it was likely Bella had Mitochondrial disease - which is terminal…

The couple were told that the hospital had a similar case from six years before where a child had Biotinidase deficiency and that they would start injecting her with Biotin which is Vitamin H…
A few days passed and they tried to take Bella off the ventilator to see if she could breathe by herself but she couldn't and was re-tubed.

Mrs Moore-Williams said: 'The doctors didn't want us to cling on to any hope because the signs were showing it was Mitochondrial and they weren't expecting it to be Biotinidase deficiency as it only affects around two people in the UK every year.

'The days passed which was obviously very traumatic and we had the whole family by our sides…
Bella now goes to nursery a couple of days a week and next year the family plan to go on holiday to make up for the traumatic one they had this year…

Mr Moore-Williams said the whole experience was surreal as little Bella held his hand during what he thought were her final breaths.

He said: 'It's a bit surreal from seeing your daughter lying there and you're helpless and there's nothing you can do. I was holding her hand knowing there was going to be a little last breath.
'I could feel her hand dropping and it went down but then she started gripping my finger. She started moving on her own and then her machine started going off.

'The doctors then changed everything to try and keep her alive.'

The couple had signed a do not resuscitate form ahead of Bella's ventilator being turned off.
They had filled out the consent form which said no special measures would be taken to keep her alive.

But after she started fighting - doctors went against than plan and did everything they could.
He added: 'The doctors changed their way of thinking and they went all the way to save her. In those 20 minutes I sat by but and then realised she wasn't ready to let go.'

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