Born healthy with no complications, Alex was an active, social, happy boy. Today, he is entirely dependent on us for his care and activities of daily living. He is G-tube fed, cannot walk, cannot talk and relies on a non-invasive ventilator to breathe.
At age 3 Alex walked with an unusual gait. Motor skills and coordination became awkward. Gradually he became increasingly clumsy on his feet, requiring increasing support to walk safely. He could no longer walk by age 6. Progressively his speech slowed and slurred and by age 7 we could no longer understand him. Eating and drinking became challenging. Water needed to be thickened, food cut to small pieces, then minced and eventually pureed. Suddenly, he started to have uncontrollable painful muscle spasms every night for 2 years. At age 9, he had onset of seizures. It was no longer safe to eat by mouth after one afternoon of back to back grand mal seizures, reluctantly he underwent surgery for G-tube placement. Family life revolved around a multitude of doctor consults for health issues at hand, traveling for appointments with neurologists at leading institutions, a slew of tests and applications to programs dedicated to undiagnosed patients. All the while we were still dealing with the chaos of Alex’s ever progressing illness and deterioration of health.
In 2015, Alex was admitted into hospital 10 times. 911 calls, emergency and admissions were frequent the next 4 years that followed for respiratory and GI issues. Doctors were stumped and he was dubbed a mystery every time he was admitted. 3 separate times we were told he might not make it. After being on hospice for 8 months, the number of admissions to the hospital gradually decreased and we have been able to take care of his health and medical needs around the clock at home.
We held onto the hope that once we found the cause, we could find treatment to stop the progression of his condition. We reached out to researchers, specialists, and other parents already lighting the way. In the fall of 2018, by miraculous intervention, Alex was a cold case revisited at TGen, Center for Rare Childhood Disorders and this yielded a diagnosis. Mutation of the IRF2BPL gene had just been discovered earlier that year. This was a gene previously not known to have any significance to the neurological system. After 12 years of relentlessly searching for answers to Alex’s progressive neurodegenerative condition we finally had a name, NEDAMSS (Neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures).
We, together with 40 other IRF2BPL families around the world shall never give up, we forever hold onto hope and just like the Mars Rover, Perseverance, our perseverance continues to be out there. In honor of Alex’s love of space and all things NASA, we are celebrating his birthday this month with a pre-launch, virtual fundraising birthday party! Funds raised will go to Stand by Eli for research to identify available drugs to repurpose for effective treatment and therapies for this devastating disease.
Please visit Alex’s Odyssey at https://www.facebook.com/AYOdyssey
