Reed

Reed was born at 34 weeks due to IUGR and Preeclampsia. He presented initial Glut1 symptoms that were mistaken for common issues related to preemies with IUGR. He was delayed in most milestones but we were told he’d catch up by the age of 2 and go on to live a “normal” life.

Reed‘s journey with Glut1 began on 7/25/2021 shortly before turning 2 with a tonic-clonic seizure. He stopped breathing for about 2 minutes (which felt like 20), turned blue and stiff. Not something any parent should ever have to experience. It was a moment that changed our family forever.

Diagnosis: 8/12/2021 – Glut1. I was shocked, angry, sad, and also grateful for an answer. Until the diagnosis we were almost certain the genetic testing would be normal. My husband and I did IVF and our embryos were genetically tested! I’m still very much struggling with coming to terms with it all. How did this happen?

Progress: 9/7/21 – Reed started a strict medical keto diet and received a g-tube placement due to continued swallowing issues. We quickly saw significant improvement in Reed‘s overall health and wellbeing. To date, he’s gained 8 lbs in 4 months, is walking and improving in all areas of development. A medial keto diet is the only treatment for Glut1 currently. It gives Reed‘s brain energy through ketosis and helps in reducing the occurrence of seizures.

Updated Diagnosis: 1/7/22 – After visiting Dr. Juan Pascual, a leading Glut1 doctor and expert of the disease, he took a deeper dive into Reed‘s genetic deletion and identified 2 other notable areas which could cause additional symptoms and issues.

Today, Reed‘s updated diagnosis is “Contiguous Genetic Deletion Syndrome” and Glut1 is a part of it. We continue on the path of learning how to best support Reed through testing, ongoing therapies, a keto diet, and research. In addition to a lot of love and prayers.