Summer 2018 Newsletter
Help Some1 with Glut1 Day
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Help Some1 with Glut1 Day will be Saturday, October 20th. The York family will be hosting their 6th Annual Family Fundraiser by enjoying a leisurely walk up and down their lane and a bonfire cookout with their family, friends, and community members. You can join the Yorks even if you don't live close by - plan an activity, order some shirts if you like, and Help Some1 with Glut1 by spreading awareness and education and raising funds to help further the mission of the Glut1 Deficiency Foundation.
For more information and ideas on what other families are doing on Help Some1 with Glut1 Day, to order shirts, or to make a donation, visit the campaign page. Shirt order deadline is September 21st. THANK YOU! |
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8th Biennial Conference on Glut1 Deficiency
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We are happy to share some planning updates for our 2019 conference in Washington, DC. There is a preliminary agenda set and we have been inviting speakers to join us as we come together to meet, share, and learn in an exciting and historic location. You can find a list of topics at our website along with a list of those presenters who have already formally accepted their invitations. We will continue to add to the list, so please check back often. A full agenda and schedule will be shared once all of the speakers and topics have been confirmed.
We are excited to be offering an extensive program filled with a wealth of information to meet the diverse needs of patients and their families and to give insights into the complex world of Glut1 Deficiency for the professionals who attend. We also plan expanded social time, which is always the top of the list for families when offering feedback. We are still working on some of the final details that need to be sorted before we open registration, but we do anticipate doing that later in September. Discounted conference hotel room reservation links will also be available at that time. |
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In addition to some of the commercial sponsors we usually have at our conference, we are offering families and nonprofits the chance to be a Friend of the Foundation sponsor. These are priced at $1,000 each and will help cover the travel expenses to the conference for one of our presenters. If you are interested in supporting the G1DF and the conference efforts through a sponsorship, please contact Glenna.
Adult Research Survey
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One of the features of our 2019 conference will be special programs and resources for adult patients. 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 to download 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 from anywhere in the world.
Please visit our website to learn more about the survey, how to participate, and to find the links to download 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 from anywhere in the world.
Advocacy Activities
Social Security Administration Compassionate Allowances Update
The G1DF reported in the fall newsletter that we were invited to participate in the Social Security Administration’s National Disability Forum on Compassionate Allowances and Rare Diseases on November 7th. It was an opportunity to join 6 other rare disease organizations to educate the SSA about our diseases and make a case for inclusion in the Compassionate Allowances program. This program is comprised of diseases and conditions that, by definition, meet the disability definitions and can then receive a fast track through the disability determination process.
Unfortunately, we have learned recently that the evaluation team determined Glut1 Deficiency did not meet the definition or criteria for inclusion in the Compassionate Allowances program. The spectrum of patient experiences is broad and the number of mildly affected patients who have been diagnosed is growing. The committee determined that a Glut1 Deficiency diagnosis does not in and of itself automatically mean a patient meets the disability criteria. However, Glut1 Deficiency patients will still be considered on a case by case basis as in the past. In addition, hopefully there is more awareness around the condition and more understanding of the struggles of patients and their families since Glut1 Deficiency had the chance to be in the spotlight during this process.
Unfortunately, we have learned recently that the evaluation team determined Glut1 Deficiency did not meet the definition or criteria for inclusion in the Compassionate Allowances program. The spectrum of patient experiences is broad and the number of mildly affected patients who have been diagnosed is growing. The committee determined that a Glut1 Deficiency diagnosis does not in and of itself automatically mean a patient meets the disability criteria. However, Glut1 Deficiency patients will still be considered on a case by case basis as in the past. In addition, hopefully there is more awareness around the condition and more understanding of the struggles of patients and their families since Glut1 Deficiency had the chance to be in the spotlight during this process.
ICD-10 Diagnosis Code Proposal
The G1DF has submitted a proposal to the ICD-10 Coordination and Maintenance Committee to request that Glut1 Deficiency be assigned its own unique ICD-10 diagnosis code. ICD (International Classification of Diseases) codes play an important role in patient care for several reasons, including billing and insurance coverage, communication among medical professionals, and a method of tracking patient experiences to better understand prevelance, symptoms, treatments, and the natural history. We will continue working on this project with the hopes of eventually securing a specific code.
Legislative News
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Through our work with various advocacy organiztions, we have learned more about two pieces of legislation in the United States Congress that could be particularly beneficial to our patient community. One is the RARE Act, which aims to expand and improve the programs and activities of the Department of Health and Human Services for awareness, education, research, surveillance, diagnosis, and treatment concerning rare diseases and conditions.
The other is the Medical Nutrition Equity Act, which aims to provide for the coverage of medically necessary food and vitamins for digestive and inherited metabolic disorders under Federal health programs and private health insurance, and for other purposes. |
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If you'd like to learn more about these bills, you can click on the name of the Act above. You may also wish to contact your members of Congress to share your views on the legislation. The United States government has a website to help you find your elected officials in in the US Senate and the US House of Representatives and also provides the contact information.
National Organization for Rare Disorders Summit
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The G1DF has been awarded a full scholarship to attend the NORD Rare Diseases and Orphan Products Breakthrough Summit in Washington, DC in October. We are thankful for the opportunity to attend and to be able to share the experience and learn from other rare disease patient advocacy organizations who have much in common and face similar challenges. |
European Conference on Glut1 Deficiency
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The 2nd European Conference on Glut1 Deficiency was held June 22nd and 23rd in Felbridge, England and was hosted by Matthew's Friends. It was an amazing opportunity to meet patients and families from all across Europe and hear updates from some of the leading experts. The G1DF hosted an educational booth during the conference and also for the Matthew's Friends Keto College leading up to it.
There are some great informational interviews from the conference that have been made available on the Matthew's Friends Youtube Channel - look for the #TalkingGlut1 hashtag (and check out their other great videos while you are there!). We will continue to share any additional conference resources that are provided. |
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Educational Exhibits
Thanks to the support from our donors and fundraisers, the Glut1 Deficiency Foundation has had opportunities to spread awareness and education through our educational exhibit program. We thank all involved in helping to better educate the medical profession and help those without a diagnosis be found.
- Trudy Morgan, Teresa Lamas, and Glenna Steele hosted an exhibit booth at the European Academy of Neurology meeting in Lisbon, Portugal in June. This was the first time the G1DF participated in this congress, which provided an opportunity to reach many neurology professionals from throughout Europe. It was an especially rewarding experience to have Teresa join us - she is an adult Glut1 Deficiency patient who lives in Lisbon. She had the chance to be involved in educating others and answering eager questions about what it is like living with Glut1. She amazed us with her courage and her abilities to engage our booth visitors in her native Portuguese, but also very easily in Spanish and English as well. She also took advantage of opportunities to go visit the other European advocacy group booths and talk to them about her experiences with Glut1. Teresa wrote about her advocacy experiences and we are pleased to share it here. It was an honor for us to get to spend time with her and her wonderful family.
- Upcoming exhibits for the remainder of the year include our first exhibit at the Society for Neuroscience Annual Meeting in November, the Epilepsy Awareness Expo at Disneyland in November, and the American Epilepsy Society Annual Meeting in December.
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Epilepsy Awareness Day at Disneyland
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The 6th Annual Epilepsy Awareness Day at Disneyland "EADDL", including a packed Education Expo is scheduled for November 5th, 6th and 7th - 2018. EADDL is the combined effort of one family's thankfulness for their own daughter's recovery (It has been over 9-years since her last seizure) and a united community with a passion for winning the fight against epilepsy.
DISNEYLAND PARK TICKETS ARE AVAILABLE UNTIL OCT. 05, 2018 Come join over 2,000 highly-anticipating, ticketed participants as they converge on the Disneyland Park wearing the EADDL Purple Event T-Shirts. Visit the EADDL website for more information! |
International Glut1 Deficiency community updates
Advocacy Efforts in Wales
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Emily and Ella Wheatley, Cleo Lapping, and G1DF European Outreach Director Trudy Morgan participated in an Epilepsy Wales meeting in Cardiff on July 3rd. They met with representatives to talk about Glut1 Deficiency and some of the challenges and barriers to diagnosis, proper care, and services. Trudy was invited to address the entire Welsh Assembly, and Emily has helped shine a spotlight on the issues through sharing her personal experiences at the meeting and in the media.
Glut1 UKThe Matthew's Friends Glut1 UK group is beginning the process of setting up an official parent advocacy organization in the United Kingdom. Emma and Julie at Matthew's Friends have gracioiusly hosted the group and provided support while in its early stages in anticipation that it would be an independent organization run by Glut1 Deficiency parents when the time was right. Those efforts are underway, and we look forward to working closely with the new group and offering help where needed. We all also greatly appreciate the ongoing support and resources the patients and their families receive from Matthew's Friends - an exceptional charity providing information, support, and training for the ketogenic diet.
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Argentina Meeting
In June, professionals and families in Argentina and other parts of South America came together to meet, share, and learn about Glut1 Deficiency and ketogenic diets. Thanks to Dr. Marisa Armeno and Professor Dr. Jörg Klepper for organizing the event, and to the local families for helping provide the inspiration. The G1DF was happy to be involved by sponsoring Dr. Klepper's travel to Argentina so he could share his expertise during the conference.
Family Stories
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Tessa Breen is our featured patient story this edition. Tessa's parents, April and Gary, have documented some of the milestones in her journey and have kept her story updated over the years. It is inspiring and motivating, and helps explain why her family feels so strongly about the support they provide the Glut1 Deficiency Foundation through April's service on the Board of Directors and through their biennial Tessa's Team FUN-Raiser, which is featured below. |
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We've been working on updating the patient stories on our website, and we appreciate everyone who has been helping. These are a wonderful resource for people trying to better understand Glut1 Deficiency and the realities of living with it. The stories help educate and help us realize we are not alone. We want to encourage families to share their own story, and if it has been a while since you've shared yours, there might need to be some updating as our children have grown. You can find the stories and directions for submitting new ones or updates at our website. |
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Tessa's Team FUN-Raiser
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The Breen Family will be hosting a repeat of their very successful and impactful Tessa's Team FUN-Raiser Event in October near their home in Lockport, New York. Proceeds from this evening of HELP and HOPE will benefit the Glut1 Deficiency Foundation. Thank you Breen Family - here's a taste of what is in store!
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Miami Valley Victory Riders
A big thanks to the Miami Valley Victory Riders and the Chinault family - this is the second year they've hosted an event to benefit the Glut1 Deficiency Foundation. We are honored and thankful for the support and generosity of this great group and the love they freely show the Chinaults and their son, Landon. This year's event raised $3,445 for the mission programs of the Glut1 Deficiency Foundation. Check out this nice story the city of Springboro, Ohio did about Landon and his Glut1 journey. THANKS!
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Bramer Family Fundraiser
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The Bramer family from the Netherlands is hosting an online campaign to help raise funds for the Glut1 Deficiency Foundation in honor of their daughter, Lotte. We are most grateful for the support for our mission programs for increased awareness, improved education, advocacy for patients and families, and support and funding for research. We hope that our efforts bring help and hope to all patients and their families in the global Glut1 community. Thank you!
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We'd like to thank those who have created Facebook fundraising pages since our last newsletter edition. As you can see below, each and every donation is impactful in helping the G1DF serve the Glut1 community through its mission programs. Total giving through Facebook for this period of time was $7,616! Amazing!
Facebook's fundraising program is still evolving, and it doesn't currently provide a way to contact all fundraisers or donors directly, but please know that if you have participated in any way, we are grateful for your help and honored to be included! |
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Facebook Birthday Fundraisers Megan Saponaro $1,905 Gina Palmer $725 Cote Licciardi $620 Craig Bienfang $505 Bailey Baumeister $310 Samantha Cardin $305 Liz Bunting Dixon $60 |
Craig Battenberg $96
Kevin Brookman $270 Janis Palmer $240 Micky Wienk $205 Elena Cantarelli $140 Lori Guitierrez $125 Sue Roseberry $175 and counting! |
Other Facebook Fundraisers Elizabeth Chinault $2,110 as part of their efforts with the Miami Valley Victory Riders event |
Free and Easy Giving
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 great programs, which have generated over $6,000 for the G1D Foundation thanks to our supporters who have signed up to use them.
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