Charlotte Patt has shocked doctors by making it past her second birthday.
The toddler was born with Shprintzen-Goldberg Syndrome (SGS), an extremely rare condition characterised by craniofacial, skeletal and cardiovascular deformities. Only 50 people worldwide have been recorded with the illness.
This means that when she arrived into the world with severe deformities of her face and body, and needed resuscitation, life support, and a tracheotomy just hours after she was born.
Her mum, Tammy Patt, found out that there were complications with Charlotte’s health when she was 20 weeks pregnant, in November 2016.
She was told that her growing baby had several abnormalities, but they couldn’t say what or why.
Charlotte was showing restricted growth, with small head measurements, small facial features, short femur bones, and abnormal shapes in both her feet. Tammy’s uterus also contained large amounts of amniotic fluid.
The child was born at 35 weeks in February 2017. She didn’t cry and came out floppy.
Tests in the neonatal intensive care unit diagnosed Charlotte with Shprintzen-Goldberg Syndrome.
Tammy and her husband, Dustin, felt relief at knowing what was going on with their daughter, but faced uncertainty and isolation when it came to raising their child with such a rare condition.
Doctors didn’t expect her to survive, but two years and ten surgeries later, Charlotte is still here.
Tammy is sharing Charlotte’s story so that other parents won’t feel so alone when their child is diagnosed with a serious disorder.
Tammy says: ‘It was overpowering to know that our child had such a rare disorder with little data. It was also a very hard thing to navigate because so much was happening to our baby all at once.
‘It was so far from the normal that we had experienced with our first two children; it felt like we were floating through the motions many times.
‘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.
‘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 incredibly 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.
‘It hurt to have to explain to family and friends the things that were hard to understand ourselves. It pushed Dustin and I into roles we never knew we would have to be a part of.
‘We had to remain very realistic with our situation and discuss hard topics.
‘No parent should ever have to talk about the ‘what ifs’ to their child who may be dying.
‘My role as mom became more like a role of a nurse and that made bonding with Charlotte hard at first. I struggled on how to do both.’
Charlotte is non-verbal, and gets sick more easily than other children, so constant monitoring is essential.
Her siblings and parents make all the adjustments Charlotte needs to survive, and see the toddler as beautiful.
‘We had to learn ways to explain Charlotte’s differences to our littles,’ says Tammy. ‘It was a very hard balancing act of being there for Charlotte and also being there for Novella and Wyatt.
‘Novella was three-and-a-half when Charlotte was born, while Wyatt was one-and-a-half, so they didn’t understand a lot in the beginning,” she said.
‘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 passed her physical features.’
Raising a child with serious health difficulties is challenging, but Tammy feels lucky that Charlotte has survived.
‘Throughout the last two years I’ve tried to focus on the fact that we were lucky enough to become Charlotte’s parents and family and the best advocates she could have,’ says Tammy.
‘I know that sharing my most vulnerable feelings can not only help me work through it, but it could bring strength to others that may be facing disheartening situations and it will also spread awareness for all that we endure.
‘There are still very hard days when all I want is for all the medical issues to disappear. I get frustrated that I can’t comfort my child at times, that we can’t do the things we want.
‘Charlotte has shown so much improvement since some of her larger surgeries in the last year. To most, it is still very minimal improvement, but these inch-stones are so exciting for us.
‘When we see Charlotte happy and smiling, that’s all we can ask for. We want her to enjoy her life. We also hope that we are past some of these large lifesaving procedures so we can focus more on Charlotte’s interactions.
‘We still need to wait it out for surgery on her head/neck instability and potentially a second large cranio-surgery. It’s a fine line of waiting for her to grow bigger and keeping her safe in the meantime to prevent spinal injury.
‘As much as we love seeing her grow, her immobility and low tone are becoming more difficult as she gets taller and heavier.
‘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.’