We are thrilled to share this wonderful project the Buckner family (Brain, Heather, and Katelyn) took part in - The Pull-A-Part Challenge. Brian was part of a team that competed in creating a truck from other vehicle parts, helping raise awareness of Glut1 Deficiency and earning a donation to the charity of their choice - the Glut1 Deficiency Foundation!
It's obvious the Buckner's have talented and generous friends who think an awful lot of their family....and we are also grateful to Pull-A-Part for sponsoring this event. You can watch the video at the link below! Thanks to all involved!
Vivian Mathis provided this wonderful summary of the family meeting on November 17th in Argentina. Our gratitude to Jimena del Azar for the translation help as well.
It is true that all kinds of get togethers and gatherings of families who have a family member that has some sort of pathology are special, but I am certain that not all of them reach people’s hearts like the ones for GLUT1 families. Moms, who see each other once a year, locked in warm hugs; teary-eyed Dads full of emotion because they do everything they can and more; kids and teens that give each other shy looks as they know of each other’s struggle; uncles, aunts and grandparents always offering support and encouragement, and even though they may not know exactly how to help, their love is immense; as well as a great team of committed professionals who witness it all and are filled with emotion knowing that every second they devote to giving patients with GLUT1 a better quality of life is well worth it.
Amidst all these emotions, last November 17, the 2nd Meeting of GLUT1 Families took place with the support of the Nutrition Services Department of the Garraham Hospital. Nine children met, some for the first time, together with their parents, siblings, aunts and uncles, grandparents and friends in the Education Centre at the Garraham Hospital in Buenos Aires, in order to share a day to exchange life stories and experiences, as well as news regarding the illness and its treatment with the Ketogenic Diet.
It was a federal encounter as there were families from different cities all over Argentina; families from Santa Fe - who were there for the first time and left their mark as the biggest family and by bringing with them wonderful Glut1 T-shirts - from Bariloche, and Buenos Aires. The meeting also counted with the special participation of Daniela, who came with her mom from Santiago de Chile so as to support the Argentinian families.
There were questions, answers, discussions and moments of pure emotion, as when Daniela explained how she lives and experiences the illness as a seventeen-year-old. She offered encouraging words for both parents and children. The same heartfelt connection was present when her mom, Claudia, invited all family members to consider “seeing the person rather than the illness”, or when Daniel, Juan Pablo’s dad from Buenos Aires, encouraged everyone to work harder to ensure the kids are not invisible.
Probably every single moment will be forever held in the hearts of each of the people who were there, and everyone feels that they can do something to spread the word about Glut1 Deficiency Syndrome so that more children can be diagnosed on time and thus receive the appropriate treatment.
During this meeting it was announced that the next meeting will take place at the beginning of June also at the Garraham Hospital, and Dr. Klepper’s attendance was confirmed as he will be in Argentina to meet with other professionals and families thanks to the support of the Glut1 Deficiency Foundation.
It is important to point out that B-Life also supported this meeting, and, together with Nutrition Services from the Garraham Hospital, they were in charge of serving the children and teens delicious Ketogenic meals. In addition, Nutricia was also present with brochures and information. A lot of family members and friends also participated with gifts that sealed and proved their love for someone with Glut1.
A special note of thanks must be added from all the families to Dr. Marisa Armeno from the Garraham Hospital for her constant and unwavering support and her commitment to learning more about this illness.
Take a deep breath, live, love and hope.
We are very grateful to the Jones family for allowing us to share their story. Their son, Reece, is one of the 10% of Glut1 Deficiency patients who doesn't have seizures. They also share details of the successful use of a feeding tube to manage the ketogenic diet.
Jones family video
We are honored to share the York family's video - a powerful story about persistence and perseverance and following your instincts. This is the third in our series. Thanks to all of the Yorks for sharing their journey and to Rob Rapaport for capturing it and putting it together on film.
York Family Video
We are very happy to have been invited to take part in the Social Security Administration’s National Disability Forum on Compassionate Allowances and Rare Diseases. You can participate in the forum through teleconference and by submitting ideas and questions. Please see the invitation below for more details.
We are pleased to share that the Glut1 Deficiency Foundation has earned the Platinum Seal of Transparency from GuideStar, the highest level awarded from the world’s largest source of nonprofit information.
We’re proud to use GuideStar Platinum to share our full and complete story, showcasing the progress we’re making toward our mission and the results of our work! Check out our profile at the link below.
Thanks to all who support the work of the Foundation in so many ways!
Join KetoCal on October 5th for a free parent Webinar on adherence with the ketogenic diet! Learn tips for staying on the ketogenic diet from dietitian Stacey Bessone and Jason Meyers, a parent of a child on the ketogenic diet. Register now! http://bit.ly/2fmhjKl
The second video in our series is ready – a story that highlights some of the early signs of Glut1 Deficiency and the tremendous difference a diagnosis brings.
Sincere thanks to the Rebbecchi family for sharing their story and to Rob Rapaport for putting it together on film.
Rebbecchi Family Video
The most recent edition of our newsletter is available at the link below. There are lots of updates to share! You’ll find conference resources from our gathering last month in Nashville, plus information on plans we are already making for our next conference in 2019. There are also some details on new research projects, family news, G1D Foundation news, and some information on our plans to have a Glut1 Deficiency Foundation team in the National Walk for Epilepy.
Please let us know if there are questions or if you have items to include in future editions of our quarterly newsletters. Thank you for your interest in the Glut1 Deficiency community.