by Annette Pinder

Lyla Cardamone was 13 when she was finally diagnosed with autism. Now 14, she attends middle school, and loves art, reading, singing, girl-scouting, and is excited to be on the cover of Buffalo Healthy Living with her mom, Kelly Cardamone.

The road to understanding why Lyla was different was long and confusing. “I had a normal pregnancy and birth, but we soon realized that Lyla had hypotonia, a medical condition characterized by decreased muscle tone, and weakness. She also had severe reflux, difficulty feeding, and wasn’t gaining weight. While she was interacting with good eye contact, her motor skills were deficient. She couldn’t grasp objects well or roll over like other babies her age, didn’t walk until she was 2, and had to wear foot braces,” said Kelly.

“When we asked Lyla’s pediatrician why she wasn’t achieving expected developmental milestones, we were told that she would most likely grow out of it.” But Kelly, being well educated and working in healthcare for years, also had a strong mother’s intuition that told her something was not right. “My husband Brian and I wanted answers, but the ones we received were inconclusive.” Genetic and developmental testing at age 5 yielded a diagnosis of developmental delays for unknown reasons. Our quest for answers led us to multiple specialists, including developmental experts, neuropsychologists, a neurologist, geneticist, gastroenterologist, and an endocrinologist. Unfortunately, multiple neuropsychological assessments did not always agree with each other. We were finally told at age 8, that she had ADHD and dyslexia. More than wanting to know what was wrong, we hoped a definitive diagnosis would help guide us as to how we could best help Lyla,” said Kelly.

Finally, when Lyla was 13, a comprehensive screening at the John R. Oishei Children’s Hospital of Buffalo Developmental Clinic confirmed she had autism. Two months later, a second round of genetic testing resulted in Lyla being diagnosed with Wiedemann-Steiner Syndrome (WSS), a rare genetic condition that can affect multiple organ systems. Among the symptoms frequently associated with WSS, are developmental delays, intellectual disability, autism, growth delays, neurological abnormalities, muscular and skeletal differences, gastrointestinal issues, and endocrine problems. WSS is caused by a change in the KMT2A gene, and impacts fewer than 1,000 people in the USA. Kelly is relieved to finally have some answers to what turned out to be a 13 year-long puzzle. Now at 14 years-old, Kelly says, “Lyla enjoys middle school and, although she processes things differently, is doing great on her own path. As is typical for girls her age, adolescence can be challenging.” Kelly now urges other parents and caretakers to be persistent in advocating for their children.

“Despite my extensive background in health and physiology, specialists who evaluated Lyla challenged my right to question their conclusions.” Kelly is a Registered Dietitian and Certified Diabetes Care and Education Specialist at General Physician, P.C. She is also Board Certified in Integrative and Functional Nutrition, a Certified Wellness Coach, Exercise Physiologist, and a Clinical Nutrition Doctoral Degree student. She is also pursuing a certification as an Autism Clinical Specialist. “I want to learn as much as I can about adults with autism, and find community with others facing similar situations.” She credits social media with helping her build that community, and says, “You have to put yourself out there to find support.”

Kelly also talked a bit about food issues that often accompany autism, noting that, while they experimented a bit, what they ended up learning is that it’s important to simply follow a healthy diet.

As for Lyla’s impact on their family, Kelly says, “As in all families, Lyla and her brother Dylan who is 11 and neurotypical, occasionally experience sibling rivalry. However, Lyla has made everyone in our family more empathetic, caring, and accepting of others who are different. She has taught me to have empathy and patience in my own practice. I often ask my patients, ‘How can I help you? What works for you?’ Above, all she has taught me to accept and love her for who she is, while remaining determined to help her reach her fullest potential.”

Kelly and Brian encourage parents and families to be strong, be persistent, saying, “Don’t be afraid to ask questions, and if you think something is being missed, it very well could be. Navigating care for autism and other developmental issues can be very stressful and challenging. Do not be afraid to ask for help and support.”

To reach Kelly for an appointment at General Physician, PC or to contact her, email Kcardamone@gppconline.com, or call 716-748-4000.