Madison’s dysplasia journey began even before she came into the world. During pregnancy, concerns arose as she was smaller than expected. However it was only after her birth, when she was diagnosed with hip dysplasia, that the first signs of something more complex emerged.
X-rays at four months old revealed trident acetabulum and an s-shaped scoliosis, so a skeletal dysplasia genetic testing panel followed, identifying changes in B3GALT6. Variants in this gene are associated with a rare skeletal dysplasia known as spondyloepimetaphyseal dysplasia joint laxity type 1 (SEMDJL1). This condition can cause issues like progressive scoliosis, joint laxity/dislocations, and more.
When they found out about her diagnosis, Madi’s family faced uncertainties about what her future might look like. However, Madi’s fiery spirit has shone through. She charms everyone she meets with her sassy personality and infectious joy. Madison’s mom, Anna, emphasizes that her daughter has never allowed anything to hinder her from being a happy child.
Nemours Children’s Hospital, Delaware entered Madi’s life when her family began researching the best places for her to receive care. Anna turned to social media, seeking insights from other parents facing similar challenges and sharing Madi’s story. Recommendations for the Nemours Skeletal Dysplasia team came from all corners, so they made the journey to Delaware from Nevada. Upon arriving, Madi’s family found a medical home that has since been life-changing.
Unlike other institutions they’d visited, Nemours immediately understood Madi’s specific diagnosis. Every provider they have encountered at the hospital is well-versed in skeletal dysplasia, giving Madi’s family confidence in the care she’s receiving. Now, she follows with a multitude of providers at Nemours, including her teams in Orthopedics, Orthogenetics, Neurosurgery, Nutrition, ENT Pulmonology, and more.
Madison is an embodiment of strength and perseverance. She dances, spins, jumps, climbs, and plays with so much enthusiasm. “I met Madi in May 2021 when she was 8 months old,” says Dr. Ricki Carroll. “As her skeletal dysplasia pediatrician, I’ve had the privilege of watching her develop into the spirited, determined, playful girl she is today. From potty training to dressing herself to playing on the playground, she likes to do it herself and she won’t let anything get in her way. Her parents move mountains to ensure she’s getting the care she needs, and she is thriving because of it. It’s an honor to walk alongside them, with the rest of her multidisciplinary team, and be a part of Madi’s journey.”
Every few months, Madison and her family make the journey from Nevada to Nemours, where she is treated with serial Risser casting for her spinal curve. During these trips, her cast is changed, and her progress is closely monitored. Though there can be challenges with changing to a new cast, Madi adapts quickly and is determined to have smooth recoveries. Looking ahead, Madi’s family remains steadfast in their commitment to her well-being. Anna gives this advice to other families facing similar situations, “Never be afraid to ask for a second opinion. Reach out to support groups, trust your momma gut, and know that you’re not alone. There is someone else going through the same thing. It can be scary, but everything will be okay.”
