Spring 2021 Newsletter
Love Some1 with Glut1 Annual Campaign
The Glut1 Deficiency Foundation is so thrilled and so thankful to share the results of our 2021 Love Some1 with Glut1 campaign. Thanks to the efforts of some incredible families, we surpassed our goal and raised $131,706 (and counting) for our mission programs and spread a wealth of education and awareness.
We thank our community for these amazing results as none of it would have been possible without you and our entire team of fundraisers who rolled up their sleeves and jumped on board to put their hope for a brighter future into action. JR Rapaport, Daniella Ruggiero (Joseph), Ethan Neumann, Vivianna DeJesus, and Dalton Stoddard were our fundraising leaders in these efforts, and Ethan continued his tradition of having the most individual donors.
We are especially thankful for this generous effort in light of the uncertain times and the big goals we have for the coming year as we work to drive research progress. These funds will help enormously in this work and will help ensure our mission stays in motion. We are so grateful for each and every donation from each and every person!
We thank our community for these amazing results as none of it would have been possible without you and our entire team of fundraisers who rolled up their sleeves and jumped on board to put their hope for a brighter future into action. JR Rapaport, Daniella Ruggiero (Joseph), Ethan Neumann, Vivianna DeJesus, and Dalton Stoddard were our fundraising leaders in these efforts, and Ethan continued his tradition of having the most individual donors.
We are especially thankful for this generous effort in light of the uncertain times and the big goals we have for the coming year as we work to drive research progress. These funds will help enormously in this work and will help ensure our mission stays in motion. We are so grateful for each and every donation from each and every person!
Research Survey - Make Your Voice Heard
The Glut1 Deficiency Foundation is conducting the Glut1 Deficiency Collective Voices Project, the first of its kind research effort to gather a broad range of information about patient and family experiences in the Glut1 Deficiency community.
It is an opportunity for patients and families from around the world to help shape the future for all of our loved ones as we work to find ways to better understand the disease, ease burdens, and drive research progress towards treatments and cures.
Please visit our website at the link below to learn more about how you can be involved in this important project and ensure your voice is heard and your experiences are included.
It is an opportunity for patients and families from around the world to help shape the future for all of our loved ones as we work to find ways to better understand the disease, ease burdens, and drive research progress towards treatments and cures.
Please visit our website at the link below to learn more about how you can be involved in this important project and ensure your voice is heard and your experiences are included.
Other Survey Opportunities
Impact of the Pandemic on Behavioral Health of People with Intellectual and/or Developmental Disabilities (IDD)
Dr. Mackenzie Cervenka, member of our Medical Advisory Board, is involved with a group who advocates for patients with Intellectual and Developmental Disabilities. They are conducting a survey to understand the impacts of the COVID-19 pandemic for this population. Find out more information about the survey and how to participate here.
Parent/Caregiver Needs Assessment Survey Child Neurology Foundation
Each year Child Neurology Foundation (CNF) conducts an annual needs assessment survey to better understand the needs of parents and caregivers caring for children living with a neurologic condition. These results in turn help drive the future of CNF’s programming efforts and overall strategy. You may take part in the survey here.
Registration Now Open & Call for Posters
We are excited to announce the opening of registration and call for posters for our Inaugural Scientific Meeting on June 21-22, 2021. The scientific meeting in is designed to provide a forum for researchers and clinicians to share and collaborate as we lay the groundwork for a patient-led collaborative research network and a strategic research plan. Lay summaries of the scientific presentations and discussions will be provided for family members at our virtual family conference in July.
The goals of this first scientific convening will be to:
We are excited and full of optimism about the meeting. Please find more information below, including registration links, agenda information with speakers and topics, and poster session information.
The goals of this first scientific convening will be to:
- Share key areas of current research in Glut1 Deficiency and identify critical gaps
- Establish connections and identify overlaps and synergies among related research areas
- Identify potential researchers for participation in a collaborative research network
- Identify potential projects for a strategic research plan to drive progress
We are excited and full of optimism about the meeting. Please find more information below, including registration links, agenda information with speakers and topics, and poster session information.
2021 Family Conference Information
|
2022 Conference - In Person (we hope!)
|
We've worked with the hotel we were contracted to use for the 2021 meeting and have been able to reschedule the in-person meeting for 2022, which will be held in our more traditional timeframe of mid-July.
It will still be held at the Kona Kai Resort on Shelter Island in beautiful San Diego. It should be a great time to visit the city with nice weather and the pleasant temperatures from our location right on the bay. You can find some details about the hotel and a short video about tourism in San Diego on our website, and we're already looking forward to gathering together again! |
TREND Community Voice Report
|
We are excited now to share the finished Community Voice Report from TREND Community. It includes some very helpful insights into our disease community. TREND typically does these reports through analysis of Facebook group discussions, but since the Glut1 Deficiency Foundation doesn't manage or admin any Facebook groups for our disease, we used the original meeting place and birthplace of the Glut1 Deficiency Foundation - the Glut1 DS Yahoo Health Group.
We'd like to thank TREND Community, COMBINEDBrain, and Hans Hatton, the admin of the Glut1 DS Yahoo Health Group, for their assistance with this project, and we are especially thankful to the families who have contributed knowledge and insights through the support they've shared with others. This will be an important piece in our efforts to better define the disease and its burdens and drive progress for better treatments. |
New Partner Organization
We are delighted to announce the launch of a new charity, Glut1 Deficiency UK, to further support caregivers and patients
impacted by Glut1 Deficiency Syndrome in UK and Ireland. This is the culmination of 3 years hard work by a small group of parents, all with loved ones diagnosed, in response to the need for a charity in the UK and Ireland solely dedicated to;
The Glut1 Deficiency Foundation looks forward to working alongside Glut1 Deficiency UK as we all focus our efforts on a common mission of bringing help and hope to the Glut1 Deficiency community.
Find out more about Glut1 Deficiency UK:
email: hello@glut1deficiency.org.uk
visit the website
meet the Trustees
meet the Medical Advisory Board
impacted by Glut1 Deficiency Syndrome in UK and Ireland. This is the culmination of 3 years hard work by a small group of parents, all with loved ones diagnosed, in response to the need for a charity in the UK and Ireland solely dedicated to;
- Increasing awareness of Glut1 Deficiency Syndrome (Glut1DS)
- Improved education for families and health professionals in relation to Glut1DS
- Advocacy for families and patients impacted by Glut1DS
- Support and funding for Glut1DS research
The Glut1 Deficiency Foundation looks forward to working alongside Glut1 Deficiency UK as we all focus our efforts on a common mission of bringing help and hope to the Glut1 Deficiency community.
Find out more about Glut1 Deficiency UK:
email: hello@glut1deficiency.org.uk
visit the website
meet the Trustees
meet the Medical Advisory Board
Partner Organization Conferences
Million Dollar Bike Ride 2021
|
The Million Dollar Bike Ride is a very special opportunity to raise funds for Glut1 Deficiency research and have our donations doubled through a program with Penn Medicine's Orphan Disease Center. Last year's effort secured a $64,200 grant for Glut1 Deficiency research, which was awarded to Dr. Jason Park at UT Southwestern to test FDA-approved drugs in Glut1 Deficiency mice that were shown to activate Glut1 transport in cells during a high throughput screening project (also funded by the Glut1 Deficiency Foundation). This year's ride will be a virtual event again due to the pandemic, so it is a wonderful opportunity to join the effort easily from wherever you live. It will be held on Saturday, June 12th, and you can find more information on our website. |
Rare Genomes Project
|
Through our involvement in the Chan Zuckerberg Initiative Rare As One Network, we've learned about a special research program called the Rare Genomes Project (RGP). This program is supported by The Broad Institute of MIT and Harvard and is a patient-driven research study led by genomics experts and clinicians who believe that the latest advances in genomic sequencing are changing medicine and should be accessible to families with rare and undiagnosed conditions.
|
|
Thanks to CZI, the Glut1 Deficiency community has a special opportunity to participate in this program. It is ideal for those who are unable to get genetic testing through traditional means or for those who have had genetic testing but no mutations have been identified. Learn more and find out how to apply at the button below.
Connecting our Community
Monthly Zoom Meetings
Our monthly Glut1 Gatherings on Zoom give us social time to get to know one another better and offer support and encouragement, and we also have some sessions that are more educational in nature with topics and guest speakers.
We have several different groups meeting on a monthly basis, including groups for children and also adults living with Glut1 Deficiency, one for parents, and one hosted in Spanish. |
New Discourse Forum
We have launched a new online forum for patients and families on the Discourse platform, which provides unique and secure ways to communicate and to categorize, track, and search topics and conversations that are important to the community. It is our hope that this new tool will help provide support, answer questions, share ideas, and drive research progress. We plan to launch a version for professionals later this year where they can share research findings and ideas and consult with one another on patient care. Make sure you have signed up for the Family Network or Professional Network in order to take part in the closed, protected forums.
|
In the Open
|
We are so honored to share this remarkable story of this remarkable young man. This feature film was done by Stephen Stover and shares a glimpse into the life of Diablo CrossFit athlete and employee Chris Pagano, who has Glut1 Deficiency. Chris competed for the first time as an Adaptive Athlete in the CrossFit Games Open. We hope this story moves you as much as it moved us! |
|
Facebook & Instagram Fundraisers
We want to thank all the Facebook and Instagram fundraisers hosted since our Winter newsletter. We appreciate all who have organized or donated in this way and helped spread awareness and provided much-needed and impactful support. Total giving since the last newsletter is $9,042.21 - we are incredibly grateful!
|
THANK YOU!
|
please let us know if you have items to suggest or submit for future newsletter editions
