Fall 2018 Newsletter
Eugene Washington PCORI Engagement Award
The Glut1 Deficiency Foundation is excited to share that we have been approved for a $49,265.00 funding award through the Eugene Washington PCORI Engagement Awards program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support the Adult Experiences in Glut1 Deficiency Project. There’s an overall lack of awareness and education in general for Glut1 Deficiency, but it’s especially true for adult patients. This translates to a lack of information about symptoms, treatment options, and available services and supports to help patients better manage their condition and have a better quality of life.
The Adult Experiences in Glut1 Deficiency project aims to help address these gaps in knowledge by conducting the first ever large scale survey of adult patients in collaboration with Dr. Mackenzie Cervenka at Johns Hopkins Hospital. The information gathered will be used to foster discussions, share experiences, and build resources to better address patient needs and hopefully lead to better care. Special sessions for adult patients will be held for the first time during the next biennial family and professional conference, which will serve as a platform for the objectives of the project. This special award will also provide travel stipends for adult patients to attend and participate in the conference program. Read more about the conference and how you can help with the survey below, and see the full announcement about the PCORI award for more details.
The Adult Experiences in Glut1 Deficiency project aims to help address these gaps in knowledge by conducting the first ever large scale survey of adult patients in collaboration with Dr. Mackenzie Cervenka at Johns Hopkins Hospital. The information gathered will be used to foster discussions, share experiences, and build resources to better address patient needs and hopefully lead to better care. Special sessions for adult patients will be held for the first time during the next biennial family and professional conference, which will serve as a platform for the objectives of the project. This special award will also provide travel stipends for adult patients to attend and participate in the conference program. Read more about the conference and how you can help with the survey below, and see the full announcement about the PCORI award for more details.
8th Biennial Conference on Glut1 Deficiency
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Registration is open for our 8th biennial conference on Glut1 Deficiency. We have a growing list of topics and esteemed presenters. A full agenda and schedule will be shared once all details are finalized, but a current confirmed speaker and topic list and general schedule outline may be found at our website.
We will have special adult sessions as part of the PCORI project mentioned above, but there are other offerings as part of an extensive program to meet the diverse needs of patients, families, and professionals at all ages and stages. We also plan special and unique social activities to make the most of our time together. Please visit the conference landing page on our website to see additional information and find links to registration, hotel reservations, sponsorship opportunities, and other related information. There are early bird discounts for registration now through December 31st. We hope to see you there! |
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Adult Research Survey
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An important component of the Adult Experiences in Glut1 Deficiency project and our upcoming conference is the adult patient and caregiver survey that is underway. Many patients diagnosed in childhood are now adults or are making the transition, and there is a growing number of patients who are only just getting their diagnosis in adulthood. New challenges are being identified and there are many new areas that need to be further explored. We are hoping to help fill some of the gaps in knowledge and understanding and to be able to help everyone - families, dietitians, doctors, researchers, the G1DF, and other members of support systems - better meet needs. |
As part of these efforts, we have collaborated with Dr. Mackenzie Cervenka, an adult neurologist at Johns Hopkins Hospital and member of the G1DF Medical Advisory Board, to create a survey for patients aged 18 and older, from anywhere in the world, to gather information and insights into the adult experience. Information from this IRB approved survey will be used to plan some of the adult patient topics at our conference, and Dr. Cervenka will be presenting the findings. She also plans to publish the results of this research in a peer reviewed journal so that the information can be widely available to anyone who is searching for more insights into the adult experience. The G1DF will use the knowledge to identify areas that need further attention and to create special resources for adult patients and those caring for them.
Please visit our website to learn more about the survey, how to participate, and to find the links and directions to download and submit them. Thank you sincerely for all who take time to help with this important research initiative. The survey is open to all adult patients aged 18 and up or their caregivers - from anywhere in the world. Survey deadline is December 5th - your participation is important and appreciated!
Please visit our website to learn more about the survey, how to participate, and to find the links and directions to download and submit them. Thank you sincerely for all who take time to help with this important research initiative. The survey is open to all adult patients aged 18 and up or their caregivers - from anywhere in the world. Survey deadline is December 5th - your participation is important and appreciated!
Shopping and Giving Season
New Store Products
The G1DF is pleased to offer a selection of brand new Love Some1 with Glut1 products in our online store - just in time for holiday giving. Please visit our website to see the collection and find out more about how you can order directly from the G1DF. You can see a sneak peek below of the new specialty items we have selected for the store.
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GoodShop, Giving Assistant, Amazon Smile
We want to remind you about free and easy ways to help the Glut1 Deficiency Foundation 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 programs - all you do is shop and participating companies donate a percentage of your purchase to your charity of choice. The donation range is 1-10%, and it really adds up over time - the G1DF has received over $7,000 from these programs.
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Giving Tuesday
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The first Tuesday after Thanksgiving is recognized as #GivingTuesday, a global day of giving amidst the hustle and bustle of the holiday season. If you would like to take part and help the G1DF continue to give back to our community, we have a special campaign page at our website.
Facebook is also planning to celebrate the day by matching up to $7 million in donations - find out more about their plans and how you can take part in the efforts here. |
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Educational Events
National Organization for Rare Disorders Summit
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We were honored to have been chosen to receive a full scholarship to attend the NORD Rare Diseases and Orphan Products Summit in October in Washington, DC. It was a unique and valuable experience with opportunities to hear and learn from other rare disease patient advocacy organizations who have much in common and face similar challenges. There were also two days of talks and workshops from leaders at the FDA, NIH, and other experts in developing treatments for orphan diseases. It was an important and enjoyable learning experience and we appreciate the opportunity to take part.
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Allison and Aimee Prall hosted our educational booth at the Epilepsy Awareness Day at Disneyland in Anaheim, California on November 5th and 6th. This annual event continues to grow and bring together many stakeholders in the epilepsy community.
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Keri Meyers and Glenna Steele attended the Society for Neuroscience Annual Meeting in San Diego, California November 4th-7th. This was the first time the G1DF attended this meeting, which welcomed nearly 30,000 attendees, including students, researchers, clinicians, and industry.
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Glut1Mom.com's Vivian Mathis took part in the Keto University held at Garrahan Hospital in Buenos Aires, Argentina in October by hosting an education booth.
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Jason and Keri Meyers will represent the G1DF at the American Epilepsy Society annual meeting later this month in New Orleans. We are pleased to have a spot again in the Epilepsy Resource Center.
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Family News
Patient Stories
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Our collection of family stories provide a wonderful resource for people trying to better understand Glut1 Deficiency and the realities of living with it. You can find the collection and directions for submitting new stories or updates at our website.
We highlight Colin Leight in this newsletter edition and invite you to read about his journey. Colin lives in Maple Shade, New Jersey and was one of the earliest patients diagnosed. He continues to teach and inspire everyone who knows him! |
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We also have a very special interview video to share featuring the Ruggiero family - Joseph was Dr. Darryl De Vivo's first diagnosed Glut1 Deficiency patient. We were honored to meet them and spend some time with them during our visit with Dr. De Vivo earlier this year.
Many thanks to the Ruggiero family, Dr. De Vivo, Brian Winkowski, Lianna Piccarillo, Kris Engelstad, and Rob Rapaport for their parts in making the video possible. |
Tessa's Team FUN-Raiser
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The Breen Family held their biennial Tessa's Team FUN-raiser on October 13th in honor of their daughter, Tessa. It continues to grow and the Breens receive support from many of their family, friends, and members of their community. Meals, popular raffle items, and lots of unique gift baskets are featured amongst the fun. This year, their hard work raised $25,000 for the Glut1 Deficiency Foundation, thanks to the generosity of so many and to some matching funds opportunities in progress. Thank you Tessa's Team!
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Help Some1 with Glut1 Events
October 20th was Help Some1 with Glut1 Day, a tradition started by the York family as part of their annual fundraiser and awareness event. This year, several families joined in and planned their own unique activities to celebrate, and we are happy to share some photos they provided below. Thanks to all who took part by hosting an event or ordering shirts. Your involvement helped educate, raise awareness and nearly $10,000 for the mission programs of the Glut1 Deficiency Foundation. Thank you to the York family for leading this effort!
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The Dennison Family - Columbia, South Carolina
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The Norgren/Dewar family in Michigan
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The York family in Oktaha, Oklahoma
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The Falls family - North Carolina
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The Steele family at Cave Run Lake, Kentucky
(joined by the Stoddards, Deans, and Rapaports) |
The Lapping/Morgan family in Cwmbran, Wales
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Facebook Fundraisers
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We want to extend a huge thank you to all who have hosted Facebook fundraisers since our previous newsletter. Total giving through Facebook for this time period was $6,265.07! Each and every donation is appreciated and impactful in helping us continue our mission. THANK YOU!
Facebook also plans a special #Giving Tuesday campaign with the possibility of up to $7 million dollars in matching funds. Find out more here about this special campaign and how you can be involved. |
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Facebook Fundraisers
Luke Allen Ingbritt Axelsson Kristin Dennison Luca Andrea Gadioli Nikki Gregory Haley Carlson Guite Danielle Hebert |
Leigh Hopkins
Gunhild Husa Joe Isenburg Shauna Johnson April Carrell Justice Ann Kelly Rabbi Naomi Levy Lucia Mantovanelli |
Julie Ord
Amy Paterson Maria Stelle Anselmo Previtali Cristina Rodriquez Sue Roseberry Gabriella Simeoni Mindi Newman Wilson |
2019 Love Some1 with Glut1 CampaignPlease be watching for more information after the first of the year on our annual Love Some1 with Glut1 campaign. This is the signature and main fundraiser for the G1DF and helps fund all forms of our mission work and spread awareness and education to places far and wide. We hope you will sign up to help us continue the campaign tradition and our efforts to bring help and hope in making a difference for everyone in the Glut1 Deficiency community. We are planning a research grant cycle in the spring and the campaign will boost the giving we are able to do. THANK YOU!
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