A young child diagnosed with the rare genetic condition known as Shprintzen-Goldberg syndrome has surpassed doctors’ expectations by celebrating her third birthday, according to her parents. Charlotte Patt’s condition has resulted in severe deformities in both her head and body.
With only an estimated 50 individuals worldwide believed to have this condition, Charlotte’s mother, Tammy, initially faced considerable challenges in providing care for her daughter. However, as Charlotte continued to grow, she has proven to be an incredibly resilient and tenacious individual, earning her the title of a “warrior” in her family’s eyes. Despite medical professionals expressing doubt about her chances of survival, Charlotte’s life has been nothing short of a “miracle.”
Charlotte Patt, hailing from Wisconsin, was born with Shprintzen-Goldberg syndrome, an exceedingly rare condition that has been documented in approximately 50 individuals globally.
Charlotte’s condition, characterized by the premature fusion of the skull bones, has resulted in her having a narrow and elongated head, a distinctive deformity commonly associated with this syndrome.
Charlotte, alongside her brother Wyatt, has undergone 10 surgeries, and both her family and medical professionals were uncertain about her chances of survival beyond infancy.
“It was overwhelming to learn about our child’s incredibly rare disorder,” expressed Mrs. Patt of Wisconsin. “Navigating this journey was extremely challenging because so many things were happening to our baby simultaneously.”
During pregnancy scans, doctors identified issues, predicting that their daughter would be born with deformities. However, the exact nature of her condition remained a mystery until Charlotte’s birth. She arrived in February 2017, but her entrance into the world was marked by her being unusually limp and not crying. Within four hours, she required resuscitation and life support due to her inability to breathe independently. On the very day she was born, Charlotte underwent a tracheotomy, a procedure that established a new airway for her to breathe.
Over the years, Charlotte has undergone 10 surgeries aimed at addressing the impacts of her genetic condition, surpassing her family’s initial expectations for her longevity. Mrs. Patt revealed that there were moments when doctors nearly gave up on her daughter, with many healthcare professionals struggling to manage the severity of Charlotte’s care.
“We encountered many doctors who were unwilling to be part of ‘Team Charlotte’,” Mrs. Patt explained. “I honestly believed and was led to believe that Charlotte wouldn’t have a long life, but I’ve witnessed her remarkable progress and pushed to ensure she receives the necessary treatment.”
Reflecting on their journey, Mrs. Patt shared the emotional toll of becoming parents of a special needs child. “You never anticipate becoming a parent of a special needs child. There was a profound sense of grief after Charlotte’s birth. We were incredibly grateful that she was alive, but it was painful to realize that she would face challenges throughout her life, and that our concept of ‘normal’ would differ significantly from what we initially knew.”
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 гeⱱeаɩed, and she needed to be put into intensive care within four hours of the birth
In heartwarming family photos, Charlotte is captured alongside her loved ones, including her parents, Dustin and Tammy, as well as her siblings Novella and Wyatt. Mrs. Patt shared that it deeply warms her heart to witness the strong bond that her other children have formed with Charlotte.
Shprintzen-Goldberg syndrome is a genetic condition that affects the connective tissues within the body, including those between muscles, bones, and organs. One of the most prominent effects of this condition, which Charlotte experiences, is the premature fusion of skull bones, hindering proper head development.
“As our other children have grown, and Charlotte has undergone numerous surgeries, we’ve made an effort to explain things to them,” Mrs. Patt explained. “They comprehend that they should treat Charlotte differently than babies of her age. For instance, they need to be more gentle and mindful when holding her, and they’ve learned to interpret her facial expressions to understand how she is feeling.”
Charlotte needed a tracheotomy soon after she was born so she could breathe, and is pictured with tape on her eyes because she used to be unable to open them
Charlotte, pictured with her sister Novella, has made a ‘mігасɩe journey’ so far, her mother Tammy said, although she admits ‘there are still very hard days’
‘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 ѕаd or ᴜрѕet.
‘The one thing that melts my һeагt 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.