The STAND BY ELI Foundation was created to provide funds needed to research, and ultimately treat and cure, children affected by mutations and truncations (shortening) of the IRF2BPL gene.
What is the IRF2BPL related disease?
- 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.
- Patients frequently suffer from seizures
Every time Eli falls, stumbles, or takes too long to get his words out, our hearts drop! We fear that the disease is taking over. We need to find a cure before his body stops working. Once he loses skills, we are not sure if we can get them back. Please help us save him by donating today!
