Summer 2019 Newsletter
CONFERENCE NEWS
2019 8th Biennial Glut1 Deficiency Foundation Conference
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We had an amazing turnout and an even more amazing experience at our 8th Biennial Conference held last month in Washington, DC. We welcomed new speakers and many new families to the conference, which helped create a record crowd of 430 in attendance. We are grateful to all who came and played a part in this gathering - the patients, siblings, parents, aunts, uncles, cousins, grandparents, doctors, nurses, researchers, dietitians, therapists, exhibitors, and sponsors - all who are key stakeholders in our community. We are confident that many good things will come from our time together, including some much-needed insights and resources for the adult patient experience.
We have gathered some conference resources to share and you can find those on our website. All speakers have been invited to provide their presentation slides, and we have a growing collection at the link above. You'll also find some handouts and poster session information. We will continue to add to these as they are made available and we are given permission to share. Please check back for more additions and for our Conference Summary Report now in progress. |
Conference T-Shirts - order deadline August 11th
We have set up a special limited time sale through Custom Ink to make our conference t-shirts available for those who might have missed the early ordering deadline or didn't get to come but would still like a shirt. We also have a special edition Keto Cool t-shirt as well. All designs are available in unisex adult and youth sizes. Items will be shipped directly to you at the close of the campaign. Order deadline is August 11th, with delivery expected on or around August 27th. All shirt sale proceeds will benefit the Glut1 Deficiency Foundation - thank you!
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2021 9th Biennial Glut1 Deficiency Foundation Conference
We are already looking forward to our next gathering, and we are excited to announce that a location, date, and venue have already been chosen. Preliminary planning has also begun, and we are thankful for the thoughtful feedback we received from our Washington, DC conference attendees that will help shape the next experience. Please mark your calendars and begin making plans to take part. We will continue to share updates and details on our website and in future newsletters.
RESEARCH NEWS
G1DF Research Grant Awards
We hope you've had the opportunity to read about the latest round of research grant awards totaling $187,000. These awards bring the total amount of research giving by the G1DF to $689,000 - all made possible through the generous support of our donors. We will have the opportunity to boost the giving amounts for the recently funded proposals outlined below and also for proposals we received that have yet to get any funding. If you are interested in helping move these projects along and broaden their reach, please donate. We look forward to hearing updates and progress on these projects in person at our 2021 conference. Thanks to all who have made this important work possible, which benefits everyone in the Glut1 community.
Conference Biobank Collection - Forms Needed
At our Washington, DC conference, the Coriell Institute for Medical Research hosted a booth and set up a biobank collection station. Cell lines and DNA obtained from these samples will be available to researchers around the world who are working to advance the diagnosis, treatment and prevention of Glut1 Deficiency. Coriell staff members report that it was one of their most successful conference experiences, and we were thrilled that so many took the opportunity to donate blood for this important initiative - building a biobank with Glut1 Deficiency patient samples for research.
If you were one of the over 40 people who took part, first of all THANK YOU, and secondly, they still need to get the additional paperwork you were given returned so that researchers can have important clinical and genetic details about the samples. The samples cannot be used without the accompanying details. If you have questions about the paperwork or need additional copies, please contact Sherryann Wert or Jose Santana. If you did not participate or attend the conference and would still like to contribute, please contact Sherryann or Jose about sample collection kits that can be mailed and used at regularly scheduled lab visits.
If you were one of the over 40 people who took part, first of all THANK YOU, and secondly, they still need to get the additional paperwork you were given returned so that researchers can have important clinical and genetic details about the samples. The samples cannot be used without the accompanying details. If you have questions about the paperwork or need additional copies, please contact Sherryann Wert or Jose Santana. If you did not participate or attend the conference and would still like to contribute, please contact Sherryann or Jose about sample collection kits that can be mailed and used at regularly scheduled lab visits.
Columbia University Research Project
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The pediatric neurology team at Columbia University Irving Medical Center, led by Dr. Darryl De Vivo and Kris Engelstad, is undertaking a new research opportunity and are looking to identify patients who have been clinically evaluated and determined to have Glut1 Deficiency but have had no confirmatory genetic testing or have incomplete testing. If you or your loved one fit this criteria and would like to learn more, please contact Erin Stackowitz. |
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Research Grant - Italy
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Congratulations to our friends and fellow Glut1 community members at the Italian Glut1 Association for the newly announced research seed grant award for €50,000 to focus on Glut1 Deficiency. The aim of this project, funded by donations, is to test new ideas and generate preliminary data focused on understanding the pathogenic mechanisms and pave the way for the development of new therapeutic approaches.
This grant will give Italian investigators the opportunity to prepare for larger grant applications at corporations, foundations and government agencies. The proposal window will open in September. Please visit the Telethon Foundation website for more information. |
ADVOCACY NEWS
Epilepsy Wales
The Glut1 Deficiency Foundation's European Outreach Director, Trudy Morgan, and her daughter, Cleo, have become increasingly involved with the Epilepsy Wales organization, including attending educational meetings and frequent support groups. They were invited to present information about Glut1 Deficiency and the ketogenic diet at the annual meeting in Cardiff in May. The need for greater research into complex epilepsy was discussed with further programs required for the general epilepsy community to help improve treatment options, access to services, and quality of life.
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NORD Rare Action Network
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Visit NORD's Rare Action Network to find opportunities at the state and federal level to take action to make a positive impact on the rare disease community. The RAN is also a great way to get involved locally and to support the RAN mission to connect and empower a unified network of individuals and organizations to become effective advocates for rare diseases. There are currently several pieces of legislation that directly impact the rare disease community and you can find out how to lend your support here.
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EDUCATION NEWS
Exhibits
As part of the G1DF's ongoing efforts to raise awareness and educate medical professionals so more patients can get a proper diagnosis and appropriate medical care, the following exhibits are planned for the remainder of the year:
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Keto Training
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Matthew's Friends has launched a new online ketogenic diet tutorial program for professionals. Dr. Eric Kossoff and Dr. Mackenzie Cervenka, members of our Medical Advisory Board, participate in this program and Dr. Kossoff has written a nice summary and explanation at Epilepsy.com. Please also visit Matthew's Friends website to learn more about the topics and speakers in this new Keto College training program as well as to find many additional resources and helpful information about the ketogenic diet. You can pass along the training opportunity to your healthcare providers.
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Keto CookingThe talented and caring Chef Neil and some of our Glut1 family members in Norway - having some fun at a Vitaflo ketogenic cooking workshop. Chef Neil travels the world teaching professionals and families about ketogenic cooking. We all missed Chef Neil at our Washington, DC conference this year but hope he can join us again at the next one in San Diego.
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Save the Dates
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Patient Stories
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Elli
This newsletter edition features a patient story from the adorable Elli, highlighting how a move to another country led to a diagnosis, and how the ketogenic diet changed her life. Please visit our website to read Elli's story and to share or update yours, too! These stories are a great educational tool and have helped bring understanding, comfort, and even a diagnosis to other families. |
FAMILY NEWS
Frint Family
Glut1 mom Tina Frint from Wyoming works as a nurse by day and has recently started a handmade soap business, C & C Soaps and Such, to provide a creative outlet and an opportunity to support a cause near and dear to her. She has created a special ongoing fundraiser in honor of her son, Colby, where she will have a monthly edition of a special soap with the Love Some1 with Glut1 stamp.
All proceeds from sales are being donated to the Glut1 Deficiency Foundation, and you can place an order at her website. If you are interested in setting up a recurring monthly order for the featured Love Some1 with Glut1 soap, please email Tina. We are grateful to Tina for donating soaps to the Glut1 Deficiency Foundation to use as speaker gifts at our recent conference. |
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Million Dollar Bike Ride - Meisner Family
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The Meisner family hosted team Miles for Millie in the Million Dollar Bike Ride on Saturday June 8, 2019. They were joined by members of the Rebbecchi and Rapaport families for this special event to raise awareness and research funds for Penn Medicine's Orphan Disease Center with plans to secure a pilot research grant for Glut1 Deficiency.
Walk for Will - Hagler Family
The Hagler and Latham family held their first Walk for Will on May 18th in their community of Northport, Alabama. It was a very successful and fun event - raising awareness and funds ($2,511) for the mission programs of the Glut1 Deficiency Foundation in honor of little Will. Much gratefulness and appreciation to everyone involved!
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Yoga for a Cause - Marjorie Caro
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Glut1 mom, Dr. Marjorie Caro, has set up a yoga studio inside her office in Miami, Florida. She will be hosting yoga sessions each Monday starting in September with donations to the Glut1 Deficiency Foundation serving as the fee for participants.
Marjorie says that there isn't anything that yoga can't fix, and we know she will make these sessions fun and enjoyable. We appreciate the support and also the opportunity to raise awareness and educate others about Glut1 Deficiency. |
Facebook Fundraisers
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We also would like to take the opportunity to thank those who have done special fundraisers on Facebook, which not only help contibute funding support for our mission, but also are important because they provide great opportunities to raise awareness to new audiences, too. We thank all who have organized or donated to one of these events. Total giving through Facebook since our spring newsletter was $5,251.02 - we are so grateful!
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Amanda Walker Justin Miller Elisabeth Saghai Ben Wittenstein Elena Cantarelli |
Meredith Johnson Jessica Sobotta Antonio Cason Licciardi Lindsay Jones Sonja Clark |
Elizabeth Chinault Ashton York Kirsten Morin Aurora Fiorini |
SHOP TO SUPPORT
Online Store
We have restocked our online store after a very successful sales event at our Washington, DC conference. Please visit our website to find these and other items in stock and available to order.
Cyber Giving Programs
We also want to keep reminding everyone about other free and easy ways to help the G1DF when you shop online. We are a participating charity for AmazonSmile, Giving Assistant, and GoodShop. Please visit our website to find out more about using these great programs, which have generated several thousand dollars for the G1DF thanks to our supporters who have signed up to use them - thank you!
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please let us know if you have items to suggest or submit for future newsletter editions
