Sofia's Glut1 journey

by Sofia Mar Reyes

Supporting: Love Some1 with Glut1 2022 for Glut1 Deficiency Foundation



Sofia's Glut1 journey has been filled with emotions, sadness and happiness. It started when she was a baby. Sofia did not meet her milestones on time, she had two big seizures and went through many different doctor visits and multiple tests until we finally reached a diagnosis when she was 3 and a half years old. Her diagnosis came with mixed feelings, happiness for having found an answer but sadness because there is no cure for this condition. Sofia has progressed and surprised us so much since then, and she has accomplished so many things that we never imagined she would do before her diagnosis. We are so proud of her and who she has become. Glut 1 Deficiency syndrome is a rare genetic disorder that affects brain metabolism. The only treatment available is a ketogenic diet that is extremely helpful for most of the patients and most of the symptoms. Despite the benefits of the diet, it is not perfect; it does not work for some patients and it is difficult to learn and to get used to. We need to have a better understanding of this condition, we need better treatments, and ultimately, we need a cure!

Every year the Glut1 Deficiency Foundation runs a campaign to accomplish their mission of raising awareness and educate others about this condition, as well as raise funds for research of key projects that will lead to better understanding, better treatments and a cure.

Thank you for helping us to make this campaign successful and for loving our someone with Glut1!

Sofia, Juan and Sandra

Ps. Southwest Cycling Club (SWCC) will host a bicycle ride on February 26th here in Katy, TX in honor of our loved 1 with Glut1. 

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

How would you like to support?