What exactly is IRF2BPL related disease? That is exactly what we thought when we were first given this diagnosis. So here is the medical definition that was given to us.
The IRF2BPL related disease is a rare non-inherited spontaneous disease which belongs to a group of progressive neurodegenerative diseases. The IRF2BPL related disease is currently nameless and is extremely rare due to its newly found genetic marker. Definitive diagnosis for the IRF2BPL related disorder is done through Whole Exome Sequencing (WES) via blood sample. Patients usually don’t undergo WES, due to its high cost, until they experience severe symptoms. Due to the rareness of the disease, patients are often misdiagnosed several times before WES is performed and a final diagnosis is given. As testing becomes more common, the number of diagnosed cases is estimated to increase exponentially. What are the symptoms and at what age do they present? Somewhere between the ages of 1 and 10, otherwise healthy children begin to show severe neuroregression resulting in loss of motor skills, (the ability to control their muscles). Average age of onset is 5 – 6 years old. The cornerstone symptom of the disease is immobility. Patients progressively lose the ability walk, cannot hold up their heads and become wheelchair bound. They lose the ability to speak or communicate. Patients require feeding tubes for eating. Vision becomes impaired as they lose the ability to control the muscles around their eyes. All have regression and progressive “Loss of Function” sometime before the age of 10, defined as severe tetraparesis (quadriplegic). Patients can frequently suffer from seizures. 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. 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.