During the first few weeks of her life, Sadie’s parents noticed that she wasn’t meeting growth milestones. After several visits with her pediatrician and other specialists, she was ultimately admitted to a local children’s hospital where she underwent multiple tests to determine the cause.
“They found an ovarian torsion that had caused a large mass in her abdomen that was removed during emergency overnight surgery,” shares Sadie’s mother, Ashley. “We hoped that surgery would be the end of the road for her medical complexities, but it turned out to be only the beginning. While she was still in the hospital, she was also diagnosed with torticollis, and upon further orthopedics follow-ups, it was realized that she had both hip dysplasia and scoliosis. Due to the number of diagnoses she had already accumulated within her first six months of life, she was referred for further genetic testing. A whole exome sequencing revealed a mutation on the NSD1 gene, giving her a diagnosis of Sotos Syndrome.”
Sotos Syndrome can lead to a variety of developmental and physical challenges, and one of the more common issues is the development of scoliosis. “Wanting to ensure Sadie was receiving the best possible care, we identified Dr. Suken Shah as the doctor we wanted to talk to about next steps in her scoliosis journey,” shares Ashley. This decision led them to the expert orthopedics team at Nemours Children’s Hospital, Delaware.
Dr. Shah’s thorough evaluation and clear communication about the potential treatment paths for Sadie’s scoliosis reassured them that they were in capable hands. From the initial stages of bracing and casting to her recent MAGEC™ rod surgery, Sadie’s treatment plan has been an evolving and customized process.
“We started with three casts over the course of about 8 months, before moving onto a series of Wilmington braces for the next five years,” shares Ashley. “By April of 2024, despite the interventions we’d taken to hold her curve for the past six years, her curve had progressed to the point that surgery became necessary.” This innovative procedure is designed for children with scoliosis who are still growing, allowing the rods to be adjusted without the need for multiple surgeries. The decision to proceed with surgery was not taken lightly, but it was clear that it was the best course of action to prevent further progression of the curve and to ensure Sadie could lead a healthy, active life.
“Dr. Shah is the best, and he’s surrounded by a team of incredible professionals who are both knowledgeable and warm, which is so critical when dealing with tiny, fragile patients and their anxious families,” shares Ashley. “We knew from the moment we met Dr. Shah that we would be in good hands, and we could exhale and trust his judgment. He was always honest and forthcoming about future possibilities, without allowing us to get too far down a rabbit hole of what could be coming many steps down the road, knowing we had to take her treatment one visit at a time. Alicia McCarthy, APRN was such a wonderful part of the team and always answered every question I had at seemingly any hour when we had concerns about her casts fitting properly or how to manage respiratory illnesses when her lungs were somewhat restricted by her casts. Dr. Abigail Strang was the one who always reassured us about our respiratory concerns and fit us in to check on Sadie any time the seasonal viruses came along. Casey Tramontozzi, MSN, CPNP has been the best, most cheerful advocate for Sadie while knowing her case front to back, whether it’s treatment, scheduling or insurance questions.” Sadie’s care team coordinated seamlessly, sharing insights and adjusting the treatment plan as needed. This cohesive effort not only improved Sadie’s physical well-being but also provided a sense of support for her family.
Sadie’s recovery from surgery has been remarkable. The morning after her operation, she sat up in bed, eager to move. Her determination and positive attitude helped her power through physical therapy, and she was discharged just two days later. Within a week, she resumed her daily activities, and by the time school started a month later, she was back to her normal self.
Now 7 years old, scoliosis has always been a part of Sadie’s daily routine. From a young age, she has had to adapt to the physical and emotional demands of managing scoliosis. “Prior to surgery,” shares Ashley, “She spent more than six years in casts or wearing rigid back braces for 23 hours per day. This limited her ability to build her core strength, play in the water, spend too much time outdoors in the summer, or even wear what she wanted. Having MAGEC™ rod surgery was a huge step and stressful for all of us but knowing she could live like a ‘regular kid’ without bracing or casting for the first time since before she could walk was a huge motivator in getting through it. She’s always been determined to do anything she set her mind to, but she can do so much more with so many fewer physical barriers now.”
While Sadie’s scoliosis journey isn’t over, her family is grateful for the progress she has made. “Going in for lengthening every four months is such a minor commitment that we mostly look forward to (getting a good lunch in the cafeteria–chicken tenders and tater tots, anyone?),” shares Ashley. “We know that Sadie’s surgical needs aren’t over, but we are all loving this newfound “squishy Sadie” — a term we first used during the few days between castings when we could actually squeeze her abdomen and give her hugs and snuggles without a hard cast on. Seeing how well she recovered from her first surgery makes us extremely confident in her ability to continue overcoming any obstacle with limitless enthusiasm.”
Looking ahead, Sadie is ready to embrace the future with renewed confidence and hope. “With a straightened spine and two new inches of post-surgical height, she’s ready to take on anything,” says Ashley. Despite the challenges posed by her scoliosis, Sadie has found a way to stay active and involved in her community. One of her most exciting endeavors is joining a special needs cheerleading team. The team has been incredibly supportive, even building a routine that accommodated her initial limitations after surgery, and she can’t wait for cheer season to start back up again. In the meantime, she’s playing softball as a catcher and as a proud Brownie, she sold over 150 boxes of Girl Scout cookies, helping with deliveries and sending personalized thank you messages. She’s also a school safety officer and will enter third grade next school year in a general education classroom for the first time. Sadie is thrilled about her milestones and loves her family, friends, and dressing up for every occasion, including her brother’s sporting events. “She’s going to keep doing what she’s doing, being a ray of sunshine – with a hint of sass – everywhere she goes,” says Ashley.
To other parents facing the same path, Sadie’s mom shares this advice, “Do your research, prepare as best as you can, but find a doctor that you trust wholeheartedly to make the journey easier on your family. Look for opportunities to get involved in communities, meet people with similar diagnoses, and do what you can to advocate for your child and others like them. Find ways to make the things that set them apart seem less difficult and different, like getting scoliosis braces for their stuffies and dolls, and finding books made for kids that talk about their diagnosis and what might come next surgically.” Sadie’s journey with scoliosis and Sotos Syndrome has been filled with both challenges and triumphs. The dedicated and compassionate care she has received from the Nemours team has been crucial to her progress. During a recent family dinner, Sadie asked everyone to share what they were grateful for. When it was her turn, she said, “I am grateful that I have scoliosis because it made me unique in my own way.”
