Winter 2019 Newsletter
Love Some1 with Glut1
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The launch of our annual Love Some1 with Glut1 campaign is just around the corner! The campaign, which runs from Valentine's Day to Rare Disease Day, is the primary source of support for the Glut1 Deficiency Foundation's ongoing mission programs for increased awareness, improved education, advocacy for patients and families, and support and funding for research. This year, all proceeds from the campaign will be used to boost award amounts for our current research grant cycle, which is open and accepting proposals.
Please consider signing up as a Fundraiser during the campaign - it is quick, easy and so impactful in helping the G1DF continue our efforts to bring help and hope to the global Glut1 Deficiency community. You could also show your support by making a tribute donation in honor of your loved one with Glut1 and shopping our Love Some1 with Glut1 collection at our online store. Find out more about the work of the G1D Foundation and how to sign up or make a donation at our website. We sincerely thank all those who are joining us in these efforts - we couldn't do what we do without your help. |
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2019 Glut1 Deficiency Conference
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Conference registration is open for our gathering in July, and you'll find updated information and details at our website. We have assembled an exceptional list of speakers across a broad range of topics, and you can find the confirmed speaker and topic list in our website information. A more complete and specific preliminary agenda has also just been shared. We will have formal conference sessions on the 11th and 12th, but we also plan to bookend the meeting with some special social activities on the 10th and the 13th.
Registration is free for all patients, and adult patients over the age of 18 will receive a $500 travel stipend to attend as part of special grant funding the G1DF has received from PCORI for the Adult Experiences in Glut1 Deficiency project. There will be a special poster session during the conference where researchers, clinicians, and families/patients can share information about new discoveries, new understandings, and new insights into the patient experience. Poster submissions will be accepted through April 1st. |
Registration is going strong and we are on track for record attendance. We can't wait for this experience, and we hope to see you there for this wonderful opportunity to meet, share, and learn!
Research Updates
Research Grant Cycle Open
The Glut1 Deficiency Foundation is very pleased to announce the opening of our latest research grant award cycle. These grant awards are funded through the generous support of our donors. Project proposals will be accepted through March 15th, with award notifications and announcements expected by April 15th.
Please visit our website for additional information and guidelines and to learn more about projects we have funded in the past.
We are excited to see what new ideas and opportunities will be proposed, and we thank the many people whose support makes this program possible.
Please visit our website for additional information and guidelines and to learn more about projects we have funded in the past.
We are excited to see what new ideas and opportunities will be proposed, and we thank the many people whose support makes this program possible.
Triheptanoin
Ultragenyx Pharmaceuticals has been conducting clinical trials to develop triheptanoin (UX007) as an orphan drug to treat Glut1 Deficiency. Those efforts have been discontinued after UX007 failed to meet endpoints in phase 2 of the trial for seizures and also the Phase 3 movement disorders portion. For patients and families who have participated in the trials and have questions or would like additional information on next steps, the Principal Investigator in charge of the trial in your location should be able to help. Questions may also be directed to Kim Mooney, Associate Director of Patient Advocacy at Ultragenyx.
Dr. Juan Pascual continues NIH-funded clinical studies at UT Southwestern on the use of triheptanoin as a medical food for Glut1 Deficiency patients.
Dr. Juan Pascual continues NIH-funded clinical studies at UT Southwestern on the use of triheptanoin as a medical food for Glut1 Deficiency patients.
Educational Video Project
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We have a special addition to share from our educational video series. Dr. Darryl De Vivo gives a comprehensive history and overview of Glut1 Deficiency with many interesting and important insights. We are grateful to Dr. De Vivo, Rob Rapaport, Brian Winkowski, and Lianna Piccarillo for making the video possible. You can find other videos and interviews in our series at our website and on our YouTube channel. |
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Show Your Stripes - Rare Disease Day
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The National Organization for Rare Disorders (NORD) is issuing a call to action for people in the rare disease community to literally and figuratively “show their stripes” in support of rare diseases. Find out more about this special initiative and how you can show your support for the millions of people worldwide living with rare diseases. Visit NORD's website for more information. |
Volunteer
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The G1DF would like to introduce our new volunteer, Chantel Sanchez, and welcome her to the Glut1 community. We are excited to be able to have her involved in several planned projects coming up this year.
Hello! My name is Chantal and I am 22 years old from Miami, Florida. I recently graduated from Columbia University and am currently conducting Neuroscience research as I prepare to apply to medical school. I first learned about Glut1 this past summer while helping out at Columbia’s Pediatric Neurology Department. A patient was admitted to the Children’s Hospital and I was able to meet the family and see the implications of Glut1 firsthand. This condition encompasses a unique interaction between three areas that are of great interest to me: Pediatrics, Neurology, and Endocrinology. Since then, I have wanted to learn more about the condition and would love to be able to help families in whatever way I can.
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Save the Dates
Glut1 Congress for Families and Professionals in Madrid, Spain on March 8, 2019
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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, the following exhibits are planned for the coming year:
- Rare Disease Day at the NIH (National Institutes of Health)
- European Pediatric Neurology Society Biennial Congress
- International Congress of Parkinson's Disease and Movement Disorders
- American Academy of Pediatrics National Conference and Exhibition
- National Society of Genetic Counselors Annual Meeting
- American Epilepsy Society Annual Meeting
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Ask the Expert Do you have a question you'd like to have answered? If so, Ask the Expert! You can submit your question at our website and we will pass them on to members of our Medical Advisory Board to answer in upcoming editions.
We don't have any answered questions to share in this edition, but please consider participating for future newsletters. |
Family Updates
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Chris
This newsletter edition features a patient story from the Holleman family and their son, Chris, from Carmel, Indiana. We appreciate the valuable insights and experiences they share, and we look forward to hearing Chris' mom, Leslie, speak at our upcoming conference. |
Frint FamilyGlut1 mom Tina Frint from Wyoming has recently started a handmade soap business, C & C Soaps and Such. She has created a special ongoing fundraiser in honor of her son, Colby, where she will have a monthly edition of a special soap with the Love Some1 with Glut1 stamp.
All proceeds from sales will be donated to the Glut1 Deficiency Foundation, and you can place an order at her website. |
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Tina is working on setting up a system where you can choose an automatic monthly shipping option of the featured soap, and she'll let us know when that is up and going. These beautiful and great-smelling soaps have been a big hit already, and we appreciate Tina so much as well as all those making purchases.
Bramer Family
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We are grateful to the Bramer family from the Netherlands for running an online campaign to help raise funds for the Glut1 Deficiency Foundation in honor of their daughter, Lotte. Through the support of many friends and family members, they raised $6,829 to be used for mission programs supporting education, awareness, advocacy and research. |
Ruggiero Family
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We send a big thank you to the Ruggiero family for hosting an event to benefit the Glut1 Deficiency Foundation in honor of their daughter, Allison. They held a bake sale during a high stakes rival wrestling match at West Essex High School in North Caldwell, New Jersey, where Allison's dad is the coach. They raised $640.06 and have even more events planned in February.
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Palmer Family
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The Palmer family is hosting Morgan's First Annual "Bowling Birthday Bash" Strike Out Glut1 on February 16th in Neptune City, New Jersey. We can't wait to see the pictures and hear more about this fun idea! |
We'd like to thank everyone for the support you've sent our way for #Giving Tuesday and during the end of year giving season. All donations are greatly appreciated no matter when they are given, and each one has a direct impact on our mission work.
We also would like to take the opportunity to thank those who have done special fundraisers on Facebook. These fundraisers are important because they provide great opportunities to raise awareness to new audiences, too. We don't receive notifications when fundraisers are created or when donations are made through Facebook, and we don't receive any contact information for donors, so we know you have likely not received the thanks we would like to be able to give. Your help is greatly appreciated. Total giving through Facebook since our fall newsletter was $18,121.76 - amazing, and we are so grateful!
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Facebook Fundraisers:
Rabbi Naomi Levy Regina Coniglio-Capichiano Amber Mikolaycik Jennifer Green Young April Ash York Lori Arnold Rabbi Naomi Levy Sandra Ojeda Anna Glick Gary Wilson Terrie Treland Yordy Kelly Calfee Driver Lisa Winckler Jodie Karr McKinney Candace Ditmore |
Alessandra Dionisi Susi Schramm Sienna Brown Muni Muni Jeremy Gavin Smith Esther Byrne Hoffman Jason Cohen Nancy Malm Tipton Taylee Leanne Myers June Lipps Alison Cuccaro Gibertoni Paris Schnobrich Kelly Jones Beth Lewis Stephanie Lynn Peters |
Million Dollar Bike Ride
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The 2019 6th Annual Million Dollar Bike Ride takes place on Saturday, June 8, 2019 in Philadelphia. The Meisner family will once again have their Miles for Millie team, and they will be raising funds for a matching grant to support research for Glucose Transporter Type 1 Deficiency Syndrome. Please contact Erin if you live in the area and would like to paritipcate!
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Free and Easy Giving
We want to remind you about another free and easy way 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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