Spring 2020 Newsletter
COVID-19
Life as a rare disease patient/family can bring a sense of isolation and fear under the best of circumstances, so we understand the extra challenges our community (and so many others) are facing right now. We have gathered some resources on our website that we hope will be helpful, including a Frequently Asked Questions created from a Zoom session with Dr. Juan Pascual.
Even though situations are changing quickly across communities, our medical advisors continue to reinforce that there are no unique considerations for our patients other than the general guidelines and precautions for those with underlying medical conditions. Please continue to closely monitor and follow all the recommendations from the trusted sources of information in your area and reach out to your healthcare providers with questions and concerns. We are thinking of all of you and sending our very best wishes.
Love Some1 with Glut1 Results
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We wanted to share some extreme gratitude along with updates on the Love Some1 with Glut1 campaign. Even though it officially ended on Rare Disease Day, donations continue to trickle in. With your help, we have not only surpassed our goal, but we have also reached the highest giving total ever for the campaign - $117,655!
We have all 637 donors to thank, plus all the 45 fundraisers who shared their stories and helped raise awareness and spread education. These gifts will make a lasting impact on the work of the G1DF, and we couldn't be more appreciative for the difference you'll be helping make. |
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We are especially mindful during these challenging times that none of us know what the future will bring, so we are extra grateful for this support that will help sustain the important work being done for the patient community in the days ahead.
You can visit the campaign page to see the faces and the stories, and donation pages will remain open. THANK YOU ALL!
You can visit the campaign page to see the faces and the stories, and donation pages will remain open. THANK YOU ALL!
Annual Report
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The Glut1 Deficiency Foundation is pleased to share our 2019 Annual Report, which was recently mailed to and shared with our donors. We hope each of you have been able to see how your gifts really matter to our mission. We couldn't be more grateful, and we hope we can count on your ongoing support as we continue to work together to bring help and hope to everyone with Glut1.
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Rare As One Progress Updates
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The current situation with COVID-19 has caused many disruptions and created much uncertainty all around the globe. None of us are alone in the challenges we are facing, and there is a great sense of comraderie and teamwork bubbling up. It has been especially evident in the Rare As One Network, and we are feeling extra thankful that we have been selected to be part of this amazing group. The in-person kick-off retreat was supposed to have happened in March, but after it was postponed, the Chan Zuckerberg Initiative has worked hard to provide webinars, online trainings, and support in a number of ways on a number of topics. Our progress toward creating a collaborative research network for Glut1 Deficiency definitely continues, although the path looks a little different than all of us envisioned.
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We are excited about the opportunities to come, and we are thrilled to announce that as part of our Rare As One efforts, we'll be hosting a scientific meeting on Glut1 Deficiency alongside our family conference in June 2021. This will be an important milestone in bringing together researchers and clinicians who have expertise in Glut1 Deficiency as well as other Glut1-involved diseases so that we can learn from one another, identify gaps, and help create a strategic research plan. It creates a wonderful enlightenment and motivational opportunity for the scientific and the family meeting to overlap, and we are sincerely hoping that the current travel and gathering concerns will be behind us by then. You can find more details on the meeting below.
Scientific and Family Conference
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As mentioned above, we are pleased to share that our next conference will have both a scientific component for researchers and clinicians in addition to our traditional family meeting. It will provide an invaluable opportunity to bring all the stakeholders together and help weave the patient voice into all our efforts.
Please mark your calendars, and we hope you will be able to join us in person for these special opportunities to meet, share, and learn. Preliminary planning has begun, and we have a few details already on our website. Those who join our Family Network and Professional Network will be eligible for special discounts when registration opens, which has been planned for later this year. Please continue to check our website for additional details as conference planning moves along. |
Family Network and Professional Network
As part of our Rare As One initiative, the Glut1 Deficiency Foundation is creating a formal network of patients, families, and professionals who have a connection to the Glut1 Deficiency community. The purpose of these networks is to better connect, educate, support, and empower our community as we work together for better understanding, better treatments, and a better quality of life for all people who have Glut1 Deficiency and for those who love and care for them.
Please visit the link below for more details and to find out why and how you can join us and help us move progress forward. These new networks are separate from the mailing list and will require an additional registration. They are open to patients, families, and professionals from all across the globe. Those in the network will have the opportunity to participate in surveys and special activities, share feedback, contribute personal experiences, help identify needs, and help prioritize research and the work of the Glut1 Deficiency Foundation.
Please visit the link below for more details and to find out why and how you can join us and help us move progress forward. These new networks are separate from the mailing list and will require an additional registration. They are open to patients, families, and professionals from all across the globe. Those in the network will have the opportunity to participate in surveys and special activities, share feedback, contribute personal experiences, help identify needs, and help prioritize research and the work of the Glut1 Deficiency Foundation.
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New Version of Ketonet
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The Italian Glut1 Association collaborated with the Polytechnic of Milan to create Ketonet - a free app for the management of the ketogenic diet. There's a version 2 update with new features to make it even easier for patients and their families to build their own ketogenic meals, keep in contact with their medical team, and exchange food information and clinical data.
Ketonet has 6,000 members and 400 ketogenic recipes shared by users and endorsed by nutrition experts. It is free and easily downloaded, contains a large, interactive, customizable database of foods and recipes, and can be used for any ketogenic diet protocol. |
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Connecting Our Community
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We are guessing that many of you had probably not heard of Zoom before the pandemic started, but you are likely very familiar by now. The same has been true for us, and we've been experimenting with some community gatherings on the platform. We recognize the many possibilities this platform provides and are working to come up with regularly scheduled sessions for families for social and educational purposes and for patients across different age groups. We are still learning and working to make sure we use best practices with the platform to ensure patient privacy and a secure Zoom experience. Please stay tuned for announcements coming soon about our developing Zoom program. As an extra layer of security in the future, you'll need to be part of our Family Network in order to participate.
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Educational Exhibits
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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, we host educational exhibits at several major medical meetings each year. Your giving helps make these efforts possible by providing funding for the exhibit fees, travel, and materials needed to participate.
Due to the current situation with travel and gatherings amid the COVID-19 concerns, there have been many cancellations and postponements of our scheduled events this spring and continuing on into the fall. Caroline Melendes' family was able to host a session over Valentine's Day weekend at the Pan American Section of the International Parkinson's and Movement Disorder Society Congress in their hometown of Miami. Multiple members of Caroline's family helped with the effort, and pictured here are her brother, Pedro, and her grandmother, Derma. We are very thankful for their advocacy and hands-on support and all the ways they support our work. |
Rescheduled Conferences
Due to the disruption and uncertainty from COVID-19, it has recently been shared that two important conferences in our community scheduled for this year have been postponed until next. The European Conference on Glut1 Deficiency, originally scheduled for next month in France, has been postponed until June 2021, and the 7th Global Keto Symposium has been moved to October 2021.
Research News
Million Dollar Bike Ride
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The MDBR is a unique and impactful program sponsored by the Orphan Disease Center at the University of Pennsylvania. Teams apply for opportunities to participate and raise money for a specific rare disease, and those that raise a minimum of $20,000 are eligible for a matching grant through the ODC, which is made possible by a generous anonymous donor.
There will be a Glut1 team in the 2020 Million Dollar Bike Ride, which will now be a virtual event and takes place in Philadelphia on Saturday, June 13th. Individuals or families may form teams under the Glut1 Team umbrella, sponsored by the Glut1 Deficiency Foundation, or sign up to be a virtual rider under the Glut1 team to help contribute to this collaborative effort to raise money and secure matching funds for Glut1 Deficiency research. If you'd like more information about participating or supporting, contact our Glut1 Team captain, Erin Meisner, or Glenna Steele. Follow the MDBR on Facebook for updates and ideas on how to participate virtually! |
Research Biobank Repository
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The Glut1 Deficiency Foundation is helping facilitate the establishment of a biobank repository at Coriell Institute for Medical Research. Cell lines and other biological samples will be available to researchers around the world who are working to advance the diagnosis, treatment, and prevention of Glut1 Deficiency. This repository is coming to life thanks to family participation.
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If you are a patient/family and would like to find out more about contributing samples to this important initiative or are a researcher looking for a source, please contact Sherryann Wert or Jose Santana at Coriell.
Advocacy News
Rare Disease Day Advocacy and Awareness Events
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Maria Rebecchi, Education Director, hosted an educational presentation in conjunction with Rare New England's Rare Disease Day Speaker Series. She shared her family's story and was able to educate a large audience in the medical field about Glut1 Deficiency at an event at the University of New England Osteopathic College of Medicine in Maine.
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Advocacy Director Erin Meisner attended Rare Disease Day events at the Orphan Disease Center at the University of Pennsylvania in Philadelphia, where the focus was on improving clinical research for better patient care. Erin and her family have been involved with the activities at the ODC for several years, and she will be the Glut1 team captain for the Million Dollar Bike Ride to be held there in June.
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Executive Director Glenna Steele received a scholarship to participate in RDLA Rare Disease Week in Washington, DC, which included advocacy training, policy updates, meetings with five Members of Congress, and attendeding a very informative Rare Disease Day at the NIH (National Institutes of Health).
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RIT Idea Lab for Rare Diseases
The Glut1 Deficiency Foundation was so fortunate to be represented in a very special event on Rare Disease Day at the Idea Lab at RIT (Rochester Institute of Technology in Rochester, New York). It is an annual event where teams of students work together to solve problems using technology.
NORD (National Organization for Rare Disorders) invited member organizations to submit ideas to be considered for the Idea Lab, and the submission from the Glut1 Deficiency Foundation was chosen by NORD and by RIT! Tessa Breen and her family (father Gary and mom April, who is also a board member for the G1DF) represented the Glut1 Deficiency community at the Idea Lab event. It was fitting that they attended since the idea was April's originally. There were dedicated teams working to come up with a solution to our problem, and the Breens were there to answer questions and provide feedback: "People with specialized medical diets need the ability to prepare, store, transport, and cook a variety of meals outside of the home where they don't have access to a microwave/stove, etc." We were very thankful and excited to participate, and the students came up with some great prototype ideas. |
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Rare Disease Community Catch
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The rare disease community is invited to play virtual catch with Cincinnati Reds pitcher Matt Bowman! Watch the first edition video, and if you want to participate, please send your submission to: RareBaseballProject@gmail.com
When sending a sibling/family member video, please make sure to note in the email that this is a sibling/family video. Each video will only be 3 minutes, but no fear if you don't see yourself in the next one, they'll get all the kids/adults in over the course of the next month. What a great way to raise awareness and bring a little baseball back this spring! |
Patient Assistance Programs For Those Impacted by COVID-19
NORDThrough a new patient assistance program, NORD will provide financial assistance to eligible rare disease patients, covering up to $1,000 annually. It provides funds for essential expenses including, but not limited to unexpected utility expenses; cellular or internet service; emergency repairs to car, home, or major appliances; and rent or mortgage payment assistance.
Find out more about the program and how to contact NORD to check on eligibility at their website. |
Child Neurology FoundationTo support families, the Child Neurology Foundation is greatly expanding their existing RISE Family Grants, offering fifty $1,000 awards to families living with a pediatric neurologic condition. The grant application has been shortened and the review process will be expedited to get the funds out to families as quickly as possible.
Applications for this first round of RISE Family Grants are open until 5:00 PM Pacific on May 15th. Find more information and the application at their website. |
Family News
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Practicing During the Pandemic by Kelly Jones, Communications Director for the Glut1 Deficiency Foundation
After spending more than 40 days practicing social distancing so far, you may find your family's in need of some new activities to break up the day during home isolation. Social media has been a great resource for finding new ideas on how to keep busy. Whether it’s something that is shared by a friend on Instagram or Facebook, or finding fun activities on Pinterest, now is a great time to try something new. Who knows? You might stumble upon a new hobby or fun new game for the family!
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Some Glut1 patients have been finding interesting ways to spend their time during the pandemic. Maybe you can find some pointers from these Glut1 superstars on how to stay active and creative.
Rian Cascio from New Orleans, Louisiana, had started learning to dribble a basketball around the house before the pandemic. With therapies and extracurricular activities being cancelled, Rian’s parents decided to put her growing interest in basketball to work. Rian can now run and dribble at the same time. She struggled with shooting the ball high enough at the beginning, but she has accomplished making 50 baskets in one day! She now looks forward to playing basketball everyday.
Kyle Reeves from Vacaville, California, loves building with LEGO. To further spark his imagination, his mom provided him with some LEGO challenges. His mom went onto Pinterest and found so many fun ideas for Kyle to attempt. Why not try the LEGO challenge that Kyle has been working on and see what kind of fun you can build?
Drake Lane from Apex, North Carolina, has been participating in Taekwondo for the past 3 years. He and his younger brother, Chase, have been able to continue training with their instructors at home through the Zoom app. Drake crushed his testing and made it to red belt on April 16th. Congratulations, Drake! Your hard work has paid off.
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Landon Chinault from Springboro, Ohio, had been practicing how to write his name, address, and phone number at school before all schools closed due to the pandemic. He’s been continuing to work hard, but his mom is making it fun. Sidewalk chalk is his new writing implement of choice when it comes to practicing. Awesome work, Landon!
Vivian Kuypers from Vista, California, and her sister, Violet, have been spending some of their time working on some very large paint-by-number paintings. Vivian’s mom found the painting kits at their local Michael’s store and thought they looked like a fun project for the girls during the shelter in place order. Painting is a great fine-motor activity, so that’s an added bonus to the fun! We hope that we get to see the completed masterpiece once Vivian is all done painting.
learn the rules of the game. My son, Reece, had so much fun playing this game and was the big winner of the night. Fellow Glut1 parent, April Breen, shared that when her family played she made a helpful template for her daughter, Tessa. This is a great game for number recognition and is just a lot of fun ro play.
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The following list of activities and resources is being shared for informational purposes only. Neither I nor the Glut1 Deficiency Foundation are promoting or being compensated for sharing any links in the above article or in the following links:
Imagineering in a Box is a free online program from Khan Academy that brings together the diverse talents of Disney Imagineers around the world for a one-of-a-kind learning experience and is part of Disney’s commitment to helping today’s youth create the future they imagine.
Learn how to create a comic strip, draw Charlie Brown, and even go on a neighborhood scavenger hunt with Lucy. The Charles Schulz Museum has a variety of activities available for Peanuts fans.
Even though we have to stay home, you can still visit some of the most amazing zoos, museums, National Parks, and more! Check out these virtual field trips and take a new adventure without leaving your couch. |
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Calling All Artists!
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The G1DF regularly sends handwritten thank you notes to donors, especially those who contribute by check and are sent a receipt via regular mail. We'd like to be able to include a personal patient connection in these messages, so we are asking families to help their Glut1 Deficiency patient create an original piece of art with the words "thank you" incorporated. We will use these as the cover artwork to create custom thank you notes. We invite participation from all ages and encourage you to be as creative as you like! We're hoping this extra time at home will give you an opportunity to help with this project.
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Here are a few details:
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I RISH For a Cure
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The Foy family hosted their annual I RISH FOR A CURE Saturday, March 14th in Clayton, New Jersey. The Foys started this event to commemorate and celebrate their daughter, Colleen, becoming seizure-free on St. Patricks' Day. Nancy and her close-knit community of family and friends have embraced this effort and continue to make it a special, memorable, and successful event each year, and we are most grateful. Colleen had an extra special Rare Disease Day when she was invited backstage at a concert for her favorite musician, Kane Brown.
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Facebook Fundraisers
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We also want to thank all the Facebook fundraisers hosted this quarter. These events were held in honor of birthdays and other milestones as well as our Love Some1 with Glut1 campaign. We thank all who have organized or donated to one of these events and helped spread awareness. Total giving since our winter newsletter was $9,840.91 - AMAZING!
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The Glut1 Deficiency Foundation is a nonprofit family organization dedicated to improving lives in the Glut1 Deficiency community through its mission of:
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Thank you for supporting our mission. |
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