Noah’s Story

A Rare Diagnosis, A Resilient Journey

Noah was born a seemingly typical, healthy newborn. In his early months, however, subtle differences began to emerge. Around six to nine months, he appeared weaker when trying to sit up, showed little interest in crawling, and gradually began missing what are often considered “typical” developmental milestones. He wasn’t pointing or babbling, sitting independently, or smiling at familiar faces.

Though we shared our concerns with our pediatrician, we were initially reassured that children develop at their own pace and that delays—especially in boys—can be common. But as Noah passed his first birthday, he still lacked the strength to walk independently, struggled with sleep, and continued to fall further behind in both fine and gross motor skills. Deep down, we knew it was time to seek a second opinion.

With a new pediatrician, several physical differences were documented, and Noah was quickly referred to Early Intervention services in our county. He began receiving Speech, Occupational, Physical, and Developmental therapies—both at daycare and at home. We were also referred to the genetics team at Lurie Children’s Hospital in Chicago. After a thorough evaluation, our genetic counselor recommended whole exome sequencing.

On November 22, 2021, we received the call that changed everything: Noah was diagnosed with Malan Syndrome, a rare genetic condition. At the time, only about 200 cases had been identified worldwide. With limited information available, we were directed to the Malan Syndrome Foundation to begin educating ourselves. As parents, learning that your child’s future is largely unknown—accompanied by a range of potential health risks—is overwhelming. We mourned the future we had imagined, but we were also grateful to finally have answers. The long search was over, and we could begin moving forward with clarity and purpose.

Today, Noah is thriving—on what we proudly call “Noah milestones.” Our journey has not been easy, but it has been filled with perseverance, advocacy, and growth. Noah is followed by several specialists and has undergone extensive testing and procedures, including an echocardiogram, MRI with sedation, EEG, overnight sleep study, ear tube placement, and tonsil and adenoid removal.

Noah loves being outdoors, listening to music, playing in the water, and spending time with other kids. He is joyful, playful, silly, and deeply loving. In 2024, we attended the Malan Syndrome Family and Scientific Conference in Orlando, Florida, where we met doctors, researchers, and families from around the world. That experience gave us a deeper understanding of the condition—and, most importantly, renewed hope. In July, 2026, we look forward to attending the next Malan Syndrome conference at Children’s Hospital of Philadelphia.

Noah has continued to grow in incredible ways. He completed kindergarten in a self-contained cross-categorical classroom, made many friends, attended his first school field trip, and sang in his first choir concert. This fall, he will begin at a new school focused on developing important life skills. In 2026, we look forward to attending our third Family and Scientific Conference—continuing to learn, connect, and build hope alongside our rare community.

Thank you for taking the time to learn about our journey and for the continued love and support from our family, friends, and community.

With gratitude,
Nicole and Zeljko
Parents of Noah (6) and Sofia (10)