By Liana Jacob
MEET THE inspiring toddler with a RARE connective tissue disorder that is characterised by facial deformities who has defied doctors by FIGHTING the condition with the support of her siblings who see her as BEAUTIFUL.
Stay-at-home-mum-of-three, Tammy Patt (31), from Wisconsin, USA, was 20 weeks pregnant with Charlotte (2) in November 2016, when she was told by doctors that her growing baby had several abnormalities, but they couldn’t specify what, even after going through genetic testing.
From that point until Charlotte was born, Tammy, who also has two other children, Novella (5) and Wyatt (3), was referred to specialists who monitored her pregnancy and the abnormalities on an ultrasound, fetal MRI and more but none of them could reveal Charlotte’s diagnosis.
Charlotte was showing growth restriction with small head measurements, small facial features, short femur bones, small stomach and abnormal shapes in both her feet, while Tammy’s uterus contained a large amount of excess amniotic fluid.
At the end of February 2017, Charlotte was born at 35 weeks, she did not cry when she was delivered and came out very floppy. She was resuscitated and required life support and just four hours after she was born, she underwent a tracheotomy, an incision in the windpipe made to relieve an obstruction to breathing.
In March 2017, while still in the neonatal intensive care unit and after numerous tests, the doctors diagnosed Charlotte with Shprintzen-Goldberg Syndrome (SGS), an extremely rare condition characterised by craniofacial, skeletal and cardiovascular deformities. Only 50 people worldwide have been recorded with this condition.
Tammy and her husband, Dustin, were relieved at finding out what was wrong with their daughter, but there were still many unanswered questions. Today, after a total of 10 surgeries and many doctor consults, Charlotte is now labelled a ‘miracle’ for fighting for her life despite doctors nearly giving up on her.
Tammy now wants to help raise awareness of her daughter’s condition so that other parents won’t have to go through such a tough process of finding help in the early stages of SGS diagnosis.
“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,” Tammy said.
“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.
“We had known something was wrong since I was twenty-weeks pregnant so having a diagnosis was some what a relief, but at the same time it offered very little help.
“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 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.
“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.
“We had to come to terms with a whole new normal. Charlotte gets sick more easily and that sickness has to be evaluated so much more differently than we would with our other children.
“Charlotte is non-verbal, so we had to learn to listen to her with more than our ears. We had to get family to help take care of our other two children for weekly doctor appointments and even month-long hospital stays Charlotte’s had.
“We had to learn ways to explain Charlotte’s differences to our littles. It was a very hard balancing act of being there for Charlotte and also being there for Novella and Wyatt.”
Despite the struggle to look after all children, Tammy says that Novella and Wyatt have learned how to play with their sister, and they adjusted to life as a special needs sibling so well.
“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.
“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.
“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.
“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.
“I think the best thing you can do when facing such an unknown situation is to allow yourself time to grieve. You need to allow yourself time to process the situation so that you are able to dust yourself off and become a fierce advocate.”
For more information visit: https://m.facebook.com/forcharlottewithlove/