"If you love life, don't waste time, for time is what life is made up of."
- Bruce Lee
Alex has NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures),
a very rare neurodegenerative dominant disorder caused by spontaneous mutation in the IRF2BPL gene. Our relentless search for diagnosis took more than 10 years. A progressive neurodegenerative disease that began subtly at the age of 2 and a half. Time has taken away Alex's ability to walk, stand, sit, use his hands, hold his head up, speak, swallow and breathe. Alex no longer eats or drinks by mouth and receives fluid and nutrition via a G-tube. He is on seizure medications. He relies on a non-invasive ventilator to support every breath he takes. He is a very brave child who has endured countless tests and procedures that a child his age should not have to suffer.
After 10 hospitalizations in 2015 he was put under hospice care but returned to palliative care summer 2016. In winter 2017, he spent 6 weeks in the ICU and another 2 weeks in the pulmonary unit for chronic respiratory failure. The summer of 2018, he had a pneumothorax of the right lung and was in excruciating pain for 3 days as a chest tube drained fluid and air so his lung could heal and re-inflate. He had yet another pneumothorax in 2019 and respiratory function continues to decline. He remains aware, remarkably cognizant and capable of communication, but unable to move or speak. Alex communicates by blinking his eyes and using an eye tracking device.
But Alex is incredibly strong and his "Never Give Up" attitude continues to drive us all through the challenges of hospice, admissions to ICU and more loss of abilities. We strive to make the most of everyday, appreciate the littlest of things and fight to ensure Alex has the best quality of life under the circumstances.
We continue to search for answers and work with clinicians and scientists to find a treatment and ultimately a cure for Alex.
Alex’s country love song - “Love Life”