Winter 2020 Newsletter
Chan Zuckerberg Initiative Rare As One Network
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It is with much excitement and gratitude we announce that the Glut1 Deficiency Foundation has been selected as one of 30 patient-led organizations to receive a $450,000 grant from the Chan Zuckerberg Initiative's (CZI) Rare as One Project to establish a collaborative research network. This is truly an amazing opportunity for the entire Glut1 Deficiency community and could not have been possible without the help of those who have directly supported the Foundation's mission and have helped lead us to this exciting milestone. The investments we've been able to make in building our resources and programs, the learning and training we've been able to do, the research grants we've been able to award, and the relationships we've been able to develop with our researchers and clinicians have all been essential ingredients to making this incredible honor a reality.
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This grant will allow us to continue learning, growing, and building relationships as we work to bring all stakeholders in the community together to create a framework for identifying needs, setting priorities, and creating and implementing a strategic research plan. With the funding, tools, technology, and mentorship we will receive through the Rare As One Network and the expertise, leadership and guidance we will receive from Lead Clinician Dr. Darryl De Vivo and Lead Researcher Dr. Juan Pascual, there is potential to dramatically change the future for our patients. We hope you'll join us on this exciting journey and continue to support the work of the Glut1 Deficiency Foundation.
Family Network and Professional Network
As part of this new 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, 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, share feedback, contribute personal experiences, help identify needs, and help prioritize research and the work of the Glut1 Deficiency Foundation.
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Love Some1 with Glut1 Annual Campaign
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It is also time for our annual Love Some1 with Glut1 campaign, which is and will continue to be the primary source of funding for our mission programs to increase awareness, improve education, advocate for patients and families, and support and fund research. We hope we can count on your support to help us fund the existing work we do and the new projects that will be collaboratively developed through the Rare As One Network activities. The funding we've received through Rare As One will be dedicated to helping us strengthen our framework, capacity, and sustainability, but it will be up to us to continue to provide funding for our programs and the research projects we will be identifying and supporting. Love Some1 with Glut1 launches on Valentine's Day and runs through Rare Disease Day. You can join the campaign by signing up to be a fundraiser in honor of your loved one with Glut1, making a donation, or shopping for Love Some1 with Glut1 merchandise. |
Find out more at the campaign button below, and be sure to watch our new campaign video featuring global messages of love from the heart of our community. Many thanks to those who join in the efforts and help us reach our goal of raising $100,000 to support awareness, education, advocacy, and research efforts for the entire Glut1 Deficiency community.
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Rare Disease Day
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Rare Disease Day is celebrated on the last day of February, which falls on the rare Leap Day this year, February 29th. The campaign raises awareness for rare diseases and the people affected by them. The goal of the global campaign is to achieve equitable access to diagnosis, treatment, health and social care, and social opportunity for people affected by a rare disease. Rare Disease Day provides an opportunity to advocate for rare diseases as a human rights priority at the local, national and international level.
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NORD (National Organization for Rare Disorders) is the official sponsor of Rare Disease Day in the United States. The zebra is the official symbol of rare diseases in the US and is noted for its black and white stripes, which are central to its uniqueness. Everyone has his/her own stripes, those characteristics that make each individual distinct.
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While each of the more than 7,000 rare diseases are unique, there are many commonalities that unite patients, families, caregivers and supporters. In the spirit of raising the profile of the rare disease community at large and celebrating Rare Disease Day, this year NORD is promoting a variety of ways in which individuals, organizations and groups can "show their stripes." Find out more at their wesbsite, and show them your stripes on their social media pages!
New Video Resource
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The Glut1 Deficiency Foundation is thrilled to share our new educational video we've created with the help of Osmosis. It gives an easy to understand description of Glut1 Deficiency and the symptoms most patients experience, and we believe it will be a valuable tool in our mission of raising awareness and improving education. This project has been made possible by those who generously support the work of the G1DF.
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New Intern for the Glut1 Deficiency Foundation
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We are so pleased to announce the addition of Chantal Sanchez as our new G1DF intern. Chantal is no stranger to our community and has been serving in a volunteer capacity for the last year. She has helped with numerous projects and helped in person at our Washington, DC conference in July. Chantal was also very involved with preparing the conference summary report, which is an important and popular resource for families and professionals alike. Chantal has worked with Kris Engelstad and Dr. Darryl De Vivo when she was a pre-med student at Columbia University, where she became very interested in Glut1 Deficiency and wanted to do something to help the patient community directly. Kris and Dr. De Vivo gave her high praise, and we have come to understand for ourselves that it was very well-deserved. She is currently working as a basic science researcher in a lab in her hometown of Miami. She will be pursuing medical school in the future, where she hopes to follow her interest in endocrinology, and she is very interested to explore ways where it might play a role in Glut1 Deficiency. |
Chantal will be helping with social media, patient and family engagement, and a number of educational projects, including helping with Spanish translations. We are delighted to welcome her officially to our Glut1 family.
Educational 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, 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.
Metabolic Health SummitWe had a great experience our first time at the Metabolic Health Summit recently - an impressive and growing event helping bridge the gap between ketogenic science and society. Dr. Dominic D'Agostino is one of the organizers, and also one of the researchers funded by the Glut1 Deficiency Foundation. We are very grateful for the free exhibit space they provided us and the opportunity to spread education and awareness with a new audience.
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Amercian Epilepsy SocietyWe also had the opportunity to exhibit in the Epilepsy Resource Area during the American Epilepsy Society Annual Meeting in December in Baltimore. This meeting is a wonderful opportunity to reach the world's largest gathering of epilepsy specialists to educate and raise awareness, and we are always grateful for the chance to visit with and learn from our friends at The Charlie Foundation and other rare epilepsy patient advocacy organizations.
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Upcoming Exhibits and Meetings
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Conference News
2021 9th Biennial Conference on Glut1 Deficiency
We are even more excited now for our next gathering in San Diego in 2021 - 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 later this year. Please continue to check our website for additional details as conference planning moves along.
Save the Dates
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The upcoming European Conference on Glut1 Deficiency will be held in early June in Lille, France. The G1DF will be attending and exhibiting, and we are so looking forward to meeting other families and learning from an esteemed group of professionals. Professor Stéphane Auvin, who presented at our Washington, DC conference, is coordinating the meeting.
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The G1DF will be exhibiting at the 7th Global Symposium on Medical Ketogenic Dietary Therapies in October. We are grateful for the opportunity to take part and learn the latest research on medical ketogenic diets. These symposiums are always a great experience and provide the chance to interact with ketogenic diet experts and advocates, including patients and families.
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European Glut1 Deficiency Organisation
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The newly formed European Glut1 Deficiency Organisation has launched their new website and social media accounts. This effort was undertaken as a way to better connect and represent the individual patient groups in Europe, and we look forward to collaborating with all who share our mission of bringing help and hope to the global Glut1 community.
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Research News
Million Dollar Bike Ride
The Meisner family, in honor of their daughter, Millie, participated in the Million Dollar Bike Ride with their team Miles for Millie in May 2019. 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.
The Meisners are pleased to announce that the 2019 Glut1 Deficiency Syndrome Million Dollar Bike Ride grant recipient is Dr. Umrao Monani from Columbia University Irving Medical Center. The grant will provide $46,858 for his project to define the cellular site of action of the Glut1 protein in Glucose Transporter Type 1 Deficiency Syndrome. Many thanks to Team Miles for Millie and all who supported and participated! |
There will be a Glut1 team in the 2020 Million Dollar Bike Ride, which will take place in Philadelphia on Saturday, June 13th. Individuals or families may form additional teams under the Glut1 Team umbrella, sponsored by the Glut1 Deficiency Foundation, and can 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 (near or far), contact our Glut1 Team captain, Erin Meisner.
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Italian Glut1 Association Grant Award
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Our friends at the Associazione Italiana Glut1 (Italian Glut1 Association) have announced a €50,000 research grant award for an exciting new project made possible by their fundraising efforts and the support of their families. They partnered with Fondazione Telethon to oversee the grant process. Prof. Federico Zara from the University of Genoa had the winning proposal, which is described below. We are deeply grateful for the work of the Associazione Italiana Glut1 and know that the learnings from this project will benefit everyone in the Glut1 Deficiency community. Lay Summary of the winning project The mammalian brain depends upon glucose as its main source of energy. However, glucose has only one single way to enter the brain, namely the Glut1 transporter present in the endothelium of brain capillaries. Brain endothelial cells form a tight Blood-Brain Barrier (BBB) that protects the brain from the ever-changing peripheral environment. The BBB allows the passage of molecules from plasma to brain only across endothelial cells through specific transporters, while extracellular spaces in between cells are sealed by tight junctions. Mutations in the gene encoding for Glut1 impair glucose transport to the brain, resulting in a severe neurological condition with seizures, intellectual disability and movement disorders. Since current treatments are largely ineffective, innovative therapies are in demand. Our main objective is to develop innovative tools to increase glucose transport across the BBB. |
We will follow two complementary strategies: (i) we will stimulate Glut1 synthesis by activating translation from the healthy copy of the Glut1 gene using non-coding RNAs; (ii) we will induce a transient BBB permeabilization using inhibitory peptides targeted to tight junctions to open the spaces between endothelial cells, letting glucose passively diffuse into the brain. To test these innovative molecular tools, we will develop a model of the Glut1-deficient BBB using induced pluripotent stem cells obtained from Glut1 patients and differentiated in brain endothelium to mimic the patients' pathology. We expect to obtain a proof-of-concept of the ability of these strategies to rescue Glut1 deficiency in vitro, as a first step toward testing their therapeutic efficacy in vivo.
UT Southwestern Lab VisitIn December, the G1DF visited with Dr. Juan Pascual's research team at UT Southwestern in Dallas, Texas, to hear updates on ongoing projects, learn about new ideas planning to be explored, and to discuss the efforts we will undertake to establish a collaborative research network. Dr. Juan Pascual will serve as lead researcher on our Rare As One project, and we will be working together on several new initiatives. We also heard updates from Dr. Bruce Posner and Dr. Jason Park on an exciting high throughput compound screening project funded by the G1DF and toured the Posner lab facilities. We are grateful for this dedicated and motivated team at UTSW and their ongoing interest in helping us.
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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
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Data DIY WorkshopsThe G1DF has been very grateful for the opportunity to participate in the Global Genes Data DIY events sponsored by the Chan Zuckerberg Initiative. We have received scholarships to cover travel costs to Philadelphia and Houston to participate in workshops on using data to help understand patient experiences and learn strategies for combining, streamlining, and responsibly sharing data to drive progress.
Good data is the language of research, and registries translate patient stories into data. Part of our efforts with the Rare As One Network will be to improve the way it is collected, shared, analyzed, and implemented in our community - especially in terms of patient voice. Please join our professional or family network and use the patient registry to be part of this effort - you, your story, and your data can play a role in helping shape the future for our loved ones. |
Rare Disease Day Advocacy and Awareness Events
Advocacy Director Erin Meisner will be attending Rare Disease Day events at the Orphan Disease Center at the University of Pennsylvania in Philadelphia, where the focus will be 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.
Maria Rebecchi, Education Director, plans to host an educational presentation in conjunction with Rare New England's Rare Disease Day Speaker Series. She will be sharing her family's story and teaching others about Glut1 Deficiency at an event at the University of New England Osteopathic College of Medicine in Maine. Maria is a nurse and enjoys finding opportunities to educate others in the medical field about Glut1 Deficiency.
Executive Director Glenna Steele received a scholarship to participate in RDLA Rare Disease Week in Washington, DC, which will include advocacy training, policy updates, and meetings with Members of Congress who represent her district and the headquarters for the Glut1 Deficency Foundation - Senate Majority Leader Mitch McConnell, and rare disease supporters Senator Rand Paul and Congressman Andy Barr. There will also be a NORD member meetup during the week and she'll attend Rare Disease Day at the NIH (National Institutes of Health).
Maria Rebecchi, Education Director, plans to host an educational presentation in conjunction with Rare New England's Rare Disease Day Speaker Series. She will be sharing her family's story and teaching others about Glut1 Deficiency at an event at the University of New England Osteopathic College of Medicine in Maine. Maria is a nurse and enjoys finding opportunities to educate others in the medical field about Glut1 Deficiency.
Executive Director Glenna Steele received a scholarship to participate in RDLA Rare Disease Week in Washington, DC, which will include advocacy training, policy updates, and meetings with Members of Congress who represent her district and the headquarters for the Glut1 Deficency Foundation - Senate Majority Leader Mitch McConnell, and rare disease supporters Senator Rand Paul and Congressman Andy Barr. There will also be a NORD member meetup during the week and she'll attend Rare Disease Day at the NIH (National Institutes of Health).
Family News
Condolences
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We send our deepest and heartfelt sympathies to the family of Trysta Hazel, a Glut1 Deficiency patient who passed away on January 30th. Services will be held for her on Monday, February 10th. You can read the moving tribute to her here and also find an address to send condolences to her parents, Jason and Jennifer Halsey, if you would like to reach out and support them during this unimaginably difficult time.
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Patient Stories
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“If Something Isn’t Adding Up, Look For the Rare” by Kelly Jones, Communications Director for the Glut1 Deficiency Foundation
Olivia Guziewicz has one main goal when she goes to see a doctor: “I want them to look for the unicorn - the rare thing.” Olivia, who is turning 22 this month, was diagnosed with Glut1 Deficiency Syndrome just before she turned 10 years old. She began experiencing mostly seizures, along with some movement disorder symptoms, as an infant. She was given a diagnosis of Epilepsy, for which she began the Ketogenic Diet at the age of 5 when her seizures were not responding to medication. Cerebral Palsy, another diagnosis often given before a Glut1 Deficiency diagnosis, was also added to the mix. After years of searching, along with a move from Connecticut to New
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Hampshire, Olivia was finally properly diagnosed with Glut1 Deficiency. Olivia’s Neurologist, Dr. Richard P. Morse at Dartmouth Hitchcock Medical Center, had learned about Glut1 Deficiency during a Grand Rounds presentation by Dr. Darryl De Vivo.
In December of 2019, Dr. Morse reached out to Olivia to invite her and her parents to participate in Mega Rounds for the Neurology Department at Dartmouth Hitchcock Medical Center. Grand Rounds and Mega Rounds are methodologies of medical education and inpatient care, consisting of presenting the medical problems and treatment of a particular patient to an audience consisting of doctors, residents, and medical students. Olivia participated in a segment called, “Guess My Diagnosis,” with an audience of close to 50 Neurologists, Neurology Fellows and Attending Neurologists where she gave an overview of her symptoms and how they affect her daily life. Olivia’s mother, Elizabeth Tanner, also shared about her pregnancy with Olivia and the symptoms she observed, beginning in infancy.
After one hour of the “Can You Guess?” segment of Mega Rounds, where members of the audience could try their hand at providing the correct diagnosis, one Neurologist whose specialty is Epilepsy arrived at the Glut1 Deficiency diagnosis. This is where the main message from Olivia and Elizabeth came in: “If something isn’t adding up, look for the rare.” According to Global Genes, patients living with rare diseases visit an average of 7.3 physicians over a 4.8 year period before receiving an accurate diagnosis.
The Glut1 Deficiency Foundation is thankful to Olivia and her parents for being amazing advocates and helping to spread the word about Glut1 Deficiency. Olivia lives in Enfield, New Hampshire, with her mom Elizabeth, stepdad Chris, sister Sophia, and brother Zak. She is currently employed at BJ’s Wholesale Club as an Event Specialist, handing out samples to customers. She also volunteers at the Humane Society. She loves horses, playing basketball, and kayaking. She has attended four Glut1 Family Conferences and looks forward to seeing her Glut1 friends in San Diego in 2021.
In December of 2019, Dr. Morse reached out to Olivia to invite her and her parents to participate in Mega Rounds for the Neurology Department at Dartmouth Hitchcock Medical Center. Grand Rounds and Mega Rounds are methodologies of medical education and inpatient care, consisting of presenting the medical problems and treatment of a particular patient to an audience consisting of doctors, residents, and medical students. Olivia participated in a segment called, “Guess My Diagnosis,” with an audience of close to 50 Neurologists, Neurology Fellows and Attending Neurologists where she gave an overview of her symptoms and how they affect her daily life. Olivia’s mother, Elizabeth Tanner, also shared about her pregnancy with Olivia and the symptoms she observed, beginning in infancy.
After one hour of the “Can You Guess?” segment of Mega Rounds, where members of the audience could try their hand at providing the correct diagnosis, one Neurologist whose specialty is Epilepsy arrived at the Glut1 Deficiency diagnosis. This is where the main message from Olivia and Elizabeth came in: “If something isn’t adding up, look for the rare.” According to Global Genes, patients living with rare diseases visit an average of 7.3 physicians over a 4.8 year period before receiving an accurate diagnosis.
The Glut1 Deficiency Foundation is thankful to Olivia and her parents for being amazing advocates and helping to spread the word about Glut1 Deficiency. Olivia lives in Enfield, New Hampshire, with her mom Elizabeth, stepdad Chris, sister Sophia, and brother Zak. She is currently employed at BJ’s Wholesale Club as an Event Specialist, handing out samples to customers. She also volunteers at the Humane Society. She loves horses, playing basketball, and kayaking. She has attended four Glut1 Family Conferences and looks forward to seeing her Glut1 friends in San Diego in 2021.
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I RISH For a Cure
The Foy family will be hosting their annual I RISH For a Cure event on Saturday, March 14th in Clayton, New Jersey at the Clayton Elks Lodge. 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. Nancy will have t-shirts available prior to and at the event, and she and her shirt provider have graciously allowed the shirt sales to be opened up to the broader Glut1 community through online sales at Custom Ink. Please visit the link to find out more, and order your shirt by February 19th.
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Moving in MiamiDr. Marjorie Caro has been hosting yoga classes and salsa lessons in the studio she has created in her office in Miami. Marjorie is donating the proceeds from these sessions to the G1DF in honor of her daughter, Caroline, who also joins in the activities. We thank Marjorie and her family for this fun fitness program which helps support the G1DF and raises much-needed awareness.
Caroline's family, including her brother, grandmother, and father, will be representing the Glut1 Deficiency Foundation at the Pan American Section of the International Parkinson's and Movement Disorder Society meeting coming up in Miami on the weekend of February 14th. We are very thankful for their advocacy and hands-on support. |
Giving Tuesday
NFL and My Cause My Cleats
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We were thrilled to learn that Detroit Lions quarterback Jeff Driskel chose the G1DF to be his featured charity for the NFL's My Cause My Cleats program planned around Giving Tuesday. Jeff has family friends who are affected by Glut1 Deficiency, and he used his platform to honor the family and bring awareness to our community. We are so grateful for this tribute and for his help. You can learn more here about other charities featured during this unique and impactful program. 
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The Glut1 Deficiency Foundation participated in the Giving Tuesday campaign on Tuesday, December 3rd. This is an annual global day of giving created to encourage support for charities during the holiday season. It is traditionally the first Tuesday after Thanksgiving and follows Black Friday and Cyber Monday.
The G1DF is very grateful to have had the support of many through Facebook fundraisers, online giving, and awareness projects. Together we raised nearly $7,000 in one day and spread lots of education. We greatly appreciate the support we receive no matter when or where, but the Giving Tuesday campaign has helped provide a great end of the year boost for our mission programs. Our work would not be possible without the support of the community we serve. |
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Facebook Fundraisers
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We also want to thank all the Facebook fundraisers hosted since the fall newsletter. These events were held in honor of birthdays and other milestones, and we also had a great boost with the Giving Tuesday activities in December. We thank all who have organized or donated to one of these events and helped spread awareness. Total giving through Facebook since our fall newsletter was $16,214.98 - AMAZING!
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Cyber Giving Programs
We 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.
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Online Store
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Please visit our online store to find a selection of Love Some1 with Glut1 merchandise in stock and ready to order. You'll also find links to special Love Some1 with Glut1 custom jewelry from Julie Fjell.
We have restructured our pricing so there will be no shipping costs to addresses in the United States. If you are outside the US, please contact us for shipping quotes prior to ordering. Those who join the Family and Professional Networks will receive special discount codes for our online shop! |
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please let us know if you have items to suggest or submit for future newsletter editions
