Team Superman - Matthew's Journey with ADEE

Hi I'm Kayla, Matthew's mom. Matthew has been sick since he was an infant. The first seizures happened at 2 months old. For years we searched for a reason why. Four years ago he received a clinical diagnosis of Dravet Syndrome, but something wasn't right. Matthew has been getting steadily worse. Yesterday we met with Emory Genetics, and were given some heartbreaking news. Matthew had whole exome sequencing (WES) done a few years ago. Some new information has come to light. He has two mutations on the GABBR2 gene. They are now considered to be a disease gene associated with Autosomal Dominant Epileptic Encephalopathy (ADEE), often associated with Rett-like clinical features. It is likely that the two variants he has are pathogenic. We are repeating the WES testing, and expect to have the results in 1-2 months. We more than likely will proceed with whole genome sequencing (WGS) after this. This test costs around $3,500. Insurance will not cover it at all. We need to do this to try to find out more about what we're dealing with. Our hope is to also find a research study for him to participate in, which will more than likely require us to travel a lot. Many that know Matthew know that over the years his bright, and always happy personality has started to fade. He also had surgery two years ago for a feeding tube for failure to thrive. Last fall he had a rough time and was in and out of Scottish Rite. He wound up needing night time monitoring with a pulse oximeter because he started desaturating in his sleep and sometimes requires oxygen. Recently, he has been having issues with his esophageal reflux, and is refusing to eat by mouth most of the time, requiring more g-tube feedings. Please help us by donating to help Matthew fight this.

This is Matthew's favorite toy. He loves music!