What exactly is IRF2BPL related disorder? That is exactly what we thought when we were first given this diagnosis. So here is the medical definition that was given to us. DEFINITION The IRF2BPL related disorder (also known as NEDAMSS - Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) is a very rare, severe genetic neurological condition causing progressive developmental regression, intellectual disability, seizures, and movement problems (like ataxia, spasticity, and dystonia) due to mutations in the IRF2BPL gene, affecting brain function and leading to loss of skills like walking and speech. Symptoms vary but often involve a loss of abilities, starting in childhood, with severe cases showing significant regression and milder ones with later-onset ataxia.
KAYLEE'S STORY Kaylee was diagnosed February 18, 2020. She was born healthy in 2013. Mom started noticing fine/gross motor skill issues at 2 and speech issues at 3, but testing always came back normal. At age 4, Kaylee's pediatrician finally witnessed one of her "strange" falls. It was like her legs just gave out on her. That was the start of our journey to specialist after specialist. At age 4.5 Kaylee suffered a regression and lost her ability to recognize letters she had learned and also forgot how to write her name. With lots of work she regained most of her letter recognition and ability to write her name but she was extremely delayed academically. At age 6 she began loosing her ability to walk on her own. By October 2019 she needed a walker and by December 2019 she was 70% wheelchair dependent. As 2020 came, Kaylee's speech became harder to understand and harder for her to get words out. In 2021, she lost her ability to sit on her own and eat on her own. 2022, she lost her ability to use her hands and arms along with deteriorated speech. 2023, she lost her ability to speak. 2024 her bones are becoming weaker. Her femur was broke while doing physical therapy and she had surgery a few weeks before Christmas. 2025 came spinal fusion surgery due to severe scoliosis. Time is a thief. We are in a fight to find a cure. To find something to stop Kaylee and the other amazing kids going through this HORRIFIC disease from becoming prisoners in their own bodies.