'Miracle' girl born with ultra-rare genetic deformity defies parents and doctors

A toddler born with an ultra-rare condition has defied doctors by living beyond her second birthday, her parents say.

Charlotte Patt was born with Shprintzen-Goldberg syndrome, a genetic condition which has left her with a deformed head and body.

One organisation estimates only 50 people worldwide have ever been recorded as having the illness.

Charlotte's mother, Tammy, has three other children and said, to begin with, looking after Charlotte was more like being a nurse and made it difficult to bond.

But she has since learned to cope and, as Charlotte has grown older, she has been a 'warrior' and had a 'miracle' life so far – even after doctors nearly gave up on her and Mrs Patt was unsure whether she'd survive.

Charlotte Patt, from Wisconsin in the US, was born with Shprintzen-Goldberg syndrome, a condition believed to have only been recorded in around 50 people around the world

Charlotte Patt, from Wisconsin in the US, was born with Shprintzen-Goldberg syndrome, a condition believed to have only been recorded in around 50 people around the world

Charlotte's condition causes the bones in the skull to fuse too soon and it has left her with a narrow, long head, which is a deformity characteristic of the condition

Charlotte's condition causes the bones in the skull to fuse too soon and it has left her with a narrow, long head, which is a deformity characteristic of the condition

Charlotte, pictured with her brother, Wyatt, has needed 10 operations already and her family and doctors weren't sure whether she would survive beyond infancy

Charlotte, pictured with her brother, Wyatt, has needed 10 operations already and her family and doctors weren't sure whether she would survive beyond infancy

'It was overpowering to know that our child had such a rare disorder,' Mrs Patt, from Wisconsin, said.

'It was also a very hard thing to navigate because so much was happening to our baby all at once.'

Mrs Patt and her husband, Dustin, were told their daughter would be deformed after doctors spotted problems during pregnancy scans.

But nobody could put their finger on what exactly was wrong with her, so the couple didn't find out until after Charlotte was born.

She was born 'very floppy' and didn't cry after birth in February 2017, and needed resuscitation and life support within four hours.

Unable to breathe on her own, Charlotte had a tracheotomy on the day she was born – an operation to create a new windpipe through which she can breathe.

Charlotte has now had 10 operations to try and deal with the effects of her genetic condition and has lived longer than her family expected.

Mrs Patt said doctors nearly gave up on her daughter when she was young. 

'Doctors still did not know how to manage the severity of Charlotte's care and we found many doctors who were not willing to work with us and be "Team Charlotte",' Mrs Patt said.

'I honestly thought and was led to believe that Charlotte would not live long, but I've since seen her progress and pushed to get her the treatment she needs.

'You never expect to become a special needs parent. There was a lot of grief after Charlotte was born.

'We were so incredible happy that she was alive, but it hurt to know that she would face challenges her entire life, that we did not have what we knew as normal with her to any degree.'

Charlotte's Shprintzen-Goldberg syndrome means she has weak muscles and reduced mobility, which her mother, Tammy, says is becoming more of a problem as she grows

Charlotte's Shprintzen-Goldberg syndrome means she has weak muscles and reduced mobility, which her mother, Tammy, says is becoming more of a problem as she grows

When Charlotte was born she didn't cry and was 'very floppy', her parents revealed, and she needed to be put into intensive care within four hours of the birth

When Charlotte was born she didn't cry and was 'very floppy', her parents revealed, and she needed to be put into intensive care within four hours of the birth

Charlotte pictured with her family – parents Dustin and Tammy, and her siblings Novella and Wyatt. Mrs Patt said it 'melts her heart' to see how fond her other children have become of Charlotte

Charlotte pictured with her family – parents Dustin and Tammy, and her siblings Novella and Wyatt. Mrs Patt said it 'melts her heart' to see how fond her other children have become of Charlotte

Shprintzen-Goldberg syndrome is a genetic condition which affects the connective tissues in the body

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