''Miracle' girl born with ultra-rare genetic deformity defies parents' and doctors' expectations to survive beyond her second birthday

March 14, 2019  13:00

A toddler born with a are 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.

'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.'

Shprintzen-Goldberg syndrome is a genetic condition which affects the connective tissues in the body – that which is between muscles, bones and organs.

One of the most noticeable effects of the condition – which has affected Charlotte – is that the bones in the skull fuse too quickly and stop the head developing properly.

This can leave babies with long, narrow, or misshapen heads and far-apart eyes, according to The Marfan Foundation, an American research organisation.

Children born with the condition may also have weak muscles and heart or brain abnormalities, and are likely to have a mild-to-moderate intellectual disability.

Mrs Patt hopes most of her daughter's serious surgeries are over and done with, but she might need more skull surgery depending on how her head develops.

The stay-at-home mother has two other children, Novella, five, and Wyatt, three.

She said the way Charlotte's siblings have come to accept and love her has been one of the most rewarding parts of the experience.

'We had to learn ways to explain Charlotte's differences to our littles,' Mrs Patt said.

'It was a very hard balancing act of being there for Charlotte and also being there for Novella and Wyatt.

'As they have grown, and Charlotte has gone through several surgeries we try our best to explain things to them.

'They understand that they need to treat Charlotte differently than other babies her age, for example, they can't hold her the same, they need to be gentle and that their sister's facial expressions let them know how she is feeling.

'They understand that their sister was born this way and needs help from the doctors. You can tell it affects them at times and they get sad or upset.

'The one thing that melts my heart is that they see Charlotte as beautiful and see past her physical features.'

Mrs Patt said her daughter has shown noticeable improvements as she has grown older, but weak muscles are becoming more of an issue as she grows taller and heavier.

'There are still very hard days when all I want is for all the medical issues to disappear,' she said.

'I get frustrated that I can't comfort my child at times, that we can't do the things we want.

'I'll always worry that I can't give Charlotte everything she needs. I worry that doctors won't have the treatments or knowledge she needs, and something will get missed that could threaten her life.

'Charlotte has made a miracle journey so far and proved so many medical professionals wrong and everyone that sees her can tell that things keep getting better and better. She is a warrior through and through.

'We will continue to fight to make her quality of life easier. Our family's current goal is to purchase a brand-new van to accommodate all of our family and have it converted with a handicap ramp, so Charlotte is able to travel easier and more often.'

Source: The Daily Mail

Photos: MDWfeatures/Tammy Patt

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