Love Some1 with Glut1 2022 for Reed Perry

by Jamie Perry

Supporting: Love Some1 with Glut1 2022 for Glut1 Deficiency Foundation



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 7/25/21 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: 8/12/21 - Glut1. I was shocked, angry, sad, but 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 gtube placement due to continued swallowing issues. We quickly saw significant improvement in Reed’s overall health and wellbeing. To date, he's gained 8lbs in 4 months, is walking and improving in all areas of development. A medical keto diet is the only treatment for Glut1 currently. It gives Reed’s brain energy through ketones and helps in reducing the occurrence of seizures.

Updated Diagnosis: 1/7/22 - After visiting Dr. Juan Pascaul, 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 “Continguous 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. 

Campaign Video of Reed 

Follow Reed's Journey on IG here

Each year, from Valentine's Day to Rare Disease Day, the Glut1 Deficiency Foundation hosts the Love Some1 with Glut1 campaignIt is an important opportunity to increase awareness and educate others about this rare disease while raising essential funds to help better serve the needs of our patient community through our mission programs.

In addition to our regular activities, we are working on some big and important goals for 2022

  • host our 9th family conference to bring families together to meet, share, and learn 
  • host our 2nd scientific convening for researchers and clinicians to exchange knowledge and ideas 
  • launch our Research Roundtable program to build a collaborative research network 
  • begin implementing and funding our newly developed patient-led Research Compass
  • launch a natural history study to better understand life-long patient experiences
  • expand our educational exhibits to reach and teach new audiences of medical professionals
  • create a new website to serve as a hub for information, support, connection, and hope

All of this year's campaign donations will be used to drive research progress and provide funding for projects in our new Research Compass.

Thank you for your part in helping us reach our goals and supporting our mission as we continue our work to bring help and hope to everyone, everywhere, who is affected by Glut1. 

Shine Like Some1 with Glut1

learn more about Glut1 Deficiency

from our brochure here

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