Today is our birthday!
The Glut1 Deficiency Foundation turns 12 years old today!
Our official date of incorporation as a 501c3 is July 7, 2011.
We thank our community for all the support that has helped bring progress for patients and families in ways big and small.
There is so much more work to do, and we thank you for joining us on the journey and helping us reach for a brighter future for all of our loved ones!
It doesn't happen without you!
Please watch our celebration reel put together by the G1DF's Maddison Hall.
International Glut1 Awareness Day
We will be joining the global Glut1 Deficiency community to celebrate the 3rd International Glut1 Awareness Day on Monday, July 10th. We've been sharing an important fact each day since July 1st on social media and plan some special things for Monday.
Grab the logo at left and use it to help spread knowledge, insights, and inspiration!
Research Ready Indianapolis
Join us in Indianapolis on Saturday, August 26th for the first of our Research Ready Series events! Experts from Peyton Manning Children's Hospital will share insights into Glut1 Deficiency patient experiences, ketogenic diet best practices, and unique insights from a keto pharmacist who is an integral part of their team.
Research Fundamentals training will be held a little later in the day, and participation and travel stipends are still available. We'll wrap up the day with special social activities for all ages, and our wonderful social worker Dana Pottschmidt will be there to have special activities for the teens and adults.
The COMBINEDBrain Biorepository Roadshow will be on hand to provide an opportunity to contribute to two new, important, and promising biomarker research projects.
Visit the link to learn more, and please keep in mind that hotel reservation discounts expire at midnight on July 26th.
Global Keto Meeting
Registration for the 8th Global Symposium on Ketogenic Therapies is underway and early bird registration discounts have been extended through July 24th - the same day poster abstract submissions are due.
The G1DF is honored to be partnering with Rady Children's Hospital and the International Neurological Ketogenic Society for this scientific meeting focused on the new horizons for diet, nutrition, cellular bioenergetics, and metabolism with special sessions on glucose metabolism. A family day will be held on September 23rd - learn more about the full meeting and registration details below.
The 4th European conference on Glut1 Deficiency was held last month in the beautiful town of Aschaffenburg, Germany. The Glut1 Deficiency Foundation was honored to have the opportunity to attend to learn the latest in research and clinical care as well as to build relationships and networks across the global Glut1 Deficiency community.
The G1DF Science Director, Dr. Sandra Ojeda, has prepared a wonderful summary of the presentations, which you can find on our website blog.
Get the latest blog updates from G1DF Science Director, Dr. Sandra Ojeda.
SUMMER RESEARCH ROUNDTABLE
July 25th at 11:00 AM Eastern
Caroline Pearson, PhD from Weill Cornell is focusing on the role of Glut1 and glucose metabolism in neural progenitor cells using mouse and human models of brain development, including organoids. She'll share some updates on her work.
Jong Rho, MD is the division chief of neurology at Rady Children's Hospital and a professor at UC San Diego. He's also chairing the upcoming International Neurological Ketogenic Society Global Keto Symposium and will join us to give a sneak peek preview.
Million Dollar Bike Ride
NATURAL HISTORY STUDIES
We have two very important but very different natural history studies underway, but patient participation is crucial to the success. Insights from these studies will be used to more clearly define patient experiences and help unlock more knowledge about the disease and more effective ways to treat it.
We are still working toward our goal of 50 patients for the Ciitizen study in order to qualify for the in-depth analysis and reporting for this look back at patient experiences through medical records. If you haven't yet enrolled - it is easy and fast with some great benefits back to you with organized medical records at your fingertips. If you have enrolled, medical records should be showing up in your dashboard. If you got stuck along the way in the sign up or have questions, please reach out or join the weekly Office Hours with Ciitizen/Invitae representatives.
The Matrix study is underway and is a look ahead at patient experiences and how they change over time through surveys. The surveys and platform are available in five languages now - English, Spanish, Italian, German, and French, and will soon be available in Portuguese, Hebrew, and Korean. There are many additional helpful features that can be customized and assist in tracking medications, symptoms, and activities to help look for patterns and correlations.
These studies won't be successful or representative without your help. All learnings will be shared back anonymously and regularly with everyone in the community, including patients, families, clinicians, researchers, and companies working to better understand and better treat our loved ones. Be counted and be included - enroll today!
Contribute biosamples for researchers to study Glut1 Deficiency and other rare neurodevelopment disorders through the COMBINEDBrain Biorepository Roadshow. Just sign up and show up at one of the fellow patient advocacy group family conferences in a city near you to take part in a biomarker research project.
Learn more on our website and find a list of upcoming conferences where you can take part by providing blood, blood spot, and urine samples. The Roadshow is also coming to our Research Ready Series event in August in Indianapolis!
July opportunities are listed below:
- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
Patient Advisory Board
Research is patient-centered when it is focused on what patients want, need, and what is important to them. As part of our PCORI project, we're working to build a more patient-centered foundation in our own community! Sandra Ojeda, Glenna Steele, Maddison Hall, and Dana Pottschmidt will lead this brand new Patient Advisory Board effort.
Applications will be accepted through July 31st and any patient over the age of 18 is eligible to apply. Meetings will be held in English, but you can participate from any country.
Learn more and apply at the link below!
Honoring Dr. De Vivo
As we have shared in the past, our beloved Dr. Darryl De Vivo is retiring. Recently, we had a very special couple of days working on a tribute video for him with The Storyteller Studios. We can't wait to share it with you when it is finished, but in the meantime here's a peek behind the scenes and a social media post from The Storyteller Studios.
"Josh and Kevin spent a couple of days this week at the Neurological Institute of New York at Columbia University Medical Center on a project about the legacy of Dr. Daryl De Vivo, a pediatric neurologist and emeritus professor who is credited with first describing and developing treatments for a rare genetic matabolic disorder called Glucose Transporter Type 1 Deficiency Syndrome, or Glut1DS (Glut1 Deficiency Foundation). The disease is estimated to impact as many as 1 in 24,000 people worldwide with devastating symptoms like seizures, developmental deficits, and mobility challenges. De Vivo’s work has relieved many of these symptoms and will eventually lead to a cure through precisely targeted gene therapy."
Our July Glut1 Gatherings kick off this weekend with the Comunidad Hispana meeting hosted by G1DF Science Director Dr. Sandra Ojeda. She'll provide a summary in Spanish of the European Glut1 Conference presentations and experiences.
The Glut1 Pals for children with Glut1 Deficiency also meets Saturday for social time and fun, hosted by G1DF Communications Coordinator Maddison Hall.
The Super Heroes (tweens and teens) and the Overcomers (adults) meet Sunday with our wonderful social worker Dana Pottschmidt. They'll have a mini lesson on problem solving and enjoy some time to socialize. The Overcomers will talk about the new Patient Advisory Board.
The G1DF's own Maddison Hall will present at the next Parent and Caregiver meeting on Saturday, July 15th to discuss the ins and outs of grief in disability parenting. Overcoming the ongoing trauma of being a parent to a child with a rare disorder is daunting. As a mother of a 4-year-old with Glut1 Deficiency Syndrome, Maddison knows this grief first-hand. Through schooling in clinical psychology, personal experience and her time working for the Glut1 Deficiency Foundation, Maddison has made connections to learn how to navigate through the ongoing grief process and assist others through it, too. She has made appearances in The Rare Life podcast and will be on for her own feature episode in October telling her story with her daughter, Eleanor, and the grief associated with it. She is passionate about working with people and facilitating the connection between Glut1 parents to improve the parent/patient experience. Join us as she shares her story, coping strategies, and resources for the Glut1 parent.
The next book selected for the new Glut1 community book club is The Friend by Sigrid Nunez. We meet again on Friday, July 28th at 7:00 PM Eastern. Grab a copy and join the conversation and camaraderie!
If you are a caretaker for a child with epilepsy and you are in the process of starting (or have recently started) the ketogenic diet or modified Atkins diet (MAD), apply today for a FREE starter kit from the Keto Hope Foundation filled with kitchen essentials, lunch box and accessories, free samples and coupons for popular ketogenic products, and much more!
Also, check out their Keto Friends program for one-on-one support for the medical ketogenic diet way of life.
Carson's diagnostic odyssey took many twists and turns with some heartbreaking stumbling blocks along the way. With the help of the new METAGlut1 test, he now has answers and a definitive diagnosis. He's thriving on a ketogenic diet, and we hope easier and brighter days are ahead for this sweet little one and his family.
Learn more about Carson and get other glimpses of the Glut1 Deficiency experience in our Family Stories section.
CARMAX CARES ABOUT GLUT1 DEFICIENCY
The Dix family rolled up their sleeves and put their advocacy in action recently when the Carmax in Puyallup, Washington honored their son, Stevie, and the Glut1 Deficiency Foundation during the Carmax Cares June event.
Stevie's dad, Allen, is employed at the Carmax in Puyallup, and over 50 fellow employees joined in the virtual walk and helped raise awareness and doubled donation funds. The Dix family provided some wonderful educational resources and personal stories about their journey with Glut1 Deficiency.
We are incredibly grateful for this special honor, the awareness raised, the support shown, and all who helped make it happen!