Spring 2019 Newsletter
Love Some1 with Glut1
We'd like to thank everyone who participated in our 2019 annual Love Some1 with Glut1 campaign, either as an individual fundraiser, a donor, or both! 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. We are very grateful for the support we receive from the community we work to serve - it makes our mission possible.
Together, we spread awareness, educated others, and met our goal of $100,000 by raising $100,679 through the generosity of 625 individual donors. We are also very pleased to announce that every dollar of your donations has already been put to use in our Research Grant Award Program. The review process has been completed and a total of $187,000 has just been awarded to projects that will help lead to better understanding, better treatments, and hopefully a cure for Glut1 Deficiency. Please find more details below about the grant recipients who are working hard to help us in our mission and the important work they are undertaking. Thank you for this gift you've given our entire patient community.
You can also read more about the campaign and find the inspirational stories of those who joined in the efforts in the menu. Ethan Neumann, JR Rapaport, and Dalton Stoddard were once again the top fundraisers, and Ethan continued his tradition of having the most individual donors. We were also honored that several families did fundraising activities outside the online campaign and made donations toward the efforts. We extend our heartfelt gratitude to all who helped make this happen!
Together, we spread awareness, educated others, and met our goal of $100,000 by raising $100,679 through the generosity of 625 individual donors. We are also very pleased to announce that every dollar of your donations has already been put to use in our Research Grant Award Program. The review process has been completed and a total of $187,000 has just been awarded to projects that will help lead to better understanding, better treatments, and hopefully a cure for Glut1 Deficiency. Please find more details below about the grant recipients who are working hard to help us in our mission and the important work they are undertaking. Thank you for this gift you've given our entire patient community.
You can also read more about the campaign and find the inspirational stories of those who joined in the efforts in the menu. Ethan Neumann, JR Rapaport, and Dalton Stoddard were once again the top fundraisers, and Ethan continued his tradition of having the most individual donors. We were also honored that several families did fundraising activities outside the online campaign and made donations toward the efforts. We extend our heartfelt gratitude to all who helped make this happen!
Research Grant Awards
2019 Glut1 Deficiency Conference
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Registration is open through July 1st for our summer conference and we have already reached record attendance! We are so excited and thankful that so many of you are going to be able to join us. We have worked hard to bring together an exceptional group of expert speakers across a broad range of topics, and we have some unique and fun social experiences planned to help add to the memories made. Please visit our website to find the schedule, agenda, and many more details. Keep in mind that hotel discounts expire on June 22nd.
Registration is free for all patients, and adult patients aged 18 and older 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. For those already registered, please refer to the update emails for important planning information and deadlines, and for those who are yet to register, please check your receipt for links to this assortment of helpful information. We can't wait to see you soon! |
Conference Biobank Collection |
Conference Therapy Project |
You can play an important role in advancing research for Glut1 Deficiency. The Coriell Institute for Medical Research is currently looking for blood donations to add to the NIGMS Human Genetic Cell Repository. Cell lines and DNA obtained from these samples will be available to researchers around the world who are working to advance the diagnosis, treatment and prevention of this disorder.
At this year’s conference, a qualified phlebotomist and the NIGMS team will be running a blood collection drive. If you are interested, please contact the NIGMS Repository (Julia Keklak at jkeklak@coriell.org/ 856-536-3170) to sign up! |
One of the topics for the conference will be different types of therapies and the benefits of each for our Glut1 Deficiency patients. We have some experts who will be presenting, and the Education Committee has been working to compile some helpful strategies and activities to share. We'd like to ask the larger community to get involved. Our goal is to create some resources to share on our website from the information gathered from parent input and also from what is presented at the conference. If you are interested in helping, please download the form here and return it by June 15th to Education Director Maria Rebbecchi when finished. We greatly appreciate the help!
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Conference Photo Project from Joanna Snyder
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ALL CALL for photos!
At this year’s conference we’d like to showcase the amazing achievements and special talents of our kids and adults with Glut1 Deficiency. I still remember being told that my baby, Gracie, might not walk or talk and now here she is, 12 years later, winning first place in a horse show and boy did she earn that first! I have never seen her so excited and proud of herself!
Let’s show off their special skills, awards and achievements to other families, doctors, nurses, dietitians, researchers, and those working so hard to help improve the lives of our family members.
Please send a high resolution image to Joanna Snyder at joannamarie1976@gmail.com by June 7th. Please include 1 word that describes your child in relation to the achievement. We hope you'll participate even if you aren't coming to the conference. Thanks so much for your help!
“Once you choose hope, anything’s possible.” – Christopher Reeve
At this year’s conference we’d like to showcase the amazing achievements and special talents of our kids and adults with Glut1 Deficiency. I still remember being told that my baby, Gracie, might not walk or talk and now here she is, 12 years later, winning first place in a horse show and boy did she earn that first! I have never seen her so excited and proud of herself!
Let’s show off their special skills, awards and achievements to other families, doctors, nurses, dietitians, researchers, and those working so hard to help improve the lives of our family members.
Please send a high resolution image to Joanna Snyder at joannamarie1976@gmail.com by June 7th. Please include 1 word that describes your child in relation to the achievement. We hope you'll participate even if you aren't coming to the conference. Thanks so much for your help!
“Once you choose hope, anything’s possible.” – Christopher Reeve
Advocacy News
ICD-10-CM Diagnosis Code Proposal
In July of 2018, the Glut1 Deficiency Foundation submitted a proposal for a new diagnosis code for Glucose Transporter Type 1 Deficiency Syndrome (Glut1 Deficiency, Glut1 DS, De Vivo Disease/Syndrome, G1D). Our proposal was selected for presentation at the March 6, 2019 ICD-10 Coordination and Maintenance Committee Meeting at the Centers for Medicare and Medicaid Services in Baltimore. Executive Director Glenna Steele attended the meeting and was able to answer some questions from the audience and committee members and provide additional input. The proposal is currently in the public comments phase and accepting input through May 10th (more information here). We are hopeful that the committee will recommend approval of the new code, which could be considered for adoption in October 2020 or later.
Currently, there is no specific code for Glut1 Deficiency, and the codes that are used are "catch all" codes with many other conditions lumped in. There is no way to track or retrieve information specifically about Glut1 Deficiency patients. The Glut1 Deficiency Foundation believes that proper identification of the underlying cause of a patient’s phenotype through a specific ICD-10 diagnosis code will help simplify and more accurately reflect the way patients are represented and identified throughout the healthcare system. A dedicated and specific code for Glut1 Deficiency will allow for a more precise accounting and understanding of true prevalence as well as other epidemiological factors, will help track patients, clinical interventions, and their outcomes to help better understand the patient experience and lead to better care, and will deepen understanding of the disorder so that new treatments can be developed. All of these outcomes will serve to enhance the quality of life for Glut1 Deficiency patients and their families and will help simplify the often difficult odyssey to secure good healthcare, services, and support.
Currently, there is no specific code for Glut1 Deficiency, and the codes that are used are "catch all" codes with many other conditions lumped in. There is no way to track or retrieve information specifically about Glut1 Deficiency patients. The Glut1 Deficiency Foundation believes that proper identification of the underlying cause of a patient’s phenotype through a specific ICD-10 diagnosis code will help simplify and more accurately reflect the way patients are represented and identified throughout the healthcare system. A dedicated and specific code for Glut1 Deficiency will allow for a more precise accounting and understanding of true prevalence as well as other epidemiological factors, will help track patients, clinical interventions, and their outcomes to help better understand the patient experience and lead to better care, and will deepen understanding of the disorder so that new treatments can be developed. All of these outcomes will serve to enhance the quality of life for Glut1 Deficiency patients and their families and will help simplify the often difficult odyssey to secure good healthcare, services, and support.
Newborn Screening Bootcamp
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Advocacy Director Erin Meisner received a scholarship to attend the Newborn Screening Bootcamp in April to learn about the necessary components and steps to building a newborn screening program and how to navigate the process for nominating conditions to state programs and the federal advisory panel. The missing piece for Glut1 Deficiency is the screening tool, but with the METAGlut1 test in development, we are hopeful that test approval may pave the way for eventual newborn screenings and life-changing early diagnosis and treatment.
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Living Rare, Living Stronger NORD Patient and Family Forum
Join NORD this June for a very special gathering of people living with rare diseases, and the medical professionals working to help improve their lives. Patients and families will gain insights and practical tools through educational sessions and discussions created just for them, with topics to include stress management, gene therapy, insurance and Medicaid access, clinical trials and more. There will be lots of fun for the kids and adults alike, with a welcome dinner party, games, a wellness room with yoga and self-care workshops for all - happening in Houston, Texas next month - find out more at NORD's website!
NORD Rare Action Network
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Visit NORD's Rare Action Network to find opportunities at the state and federal level to take action to make a positive impact on the rare disease community. The RAN is also great way to get involved locally and to support the RAN mission to connect and empower a unified network of individuals and organizations to become effective advocates for rare diseases. There are currently several pieces of legislation that directly impact the rare disease community and you can find out how to lend your support here.
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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 and appropriate medical care, the following exhibits are planned for the remainder of the year:
- 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
Awareness and Educational Events
Glut1 Deficiency parents Glenna and John Steele attended Rare Disease Day at the National Institutes of Health in Bethesda, Maryland. It was an opportunity to learn from leaders at the NIH about programs to support rare disease research and the community of patients. The G1DF also hosted an educational booth at the event.
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G1DF Executive Director Glenna Steele received a scholarship to attend the World Orphan Drug Congress at the National Harbor in April. It was a chance to learn from industry representatives about the components of drug development and patient engagement and to learn and share with other rare disease patient advocacy organizations.
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Sanofi Genzyme employees took part in a special event on Rare Disease Day, which featured a rally with guest speakers on the Boston Common and took them on 3.5 mile run/walk to the Genzyme Center. This educational and awareness event also helped raise funds for NORD (National Organization for Rare Disorders), where the Glut1 Deficiency Foundation is proud to be a member. Sanofi Genzyme has invested in and continues to support gene therapy research for Glut1 Deficiency - see if you can spot the Love Some1 with Glut1 button!
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Heidi Junnila, Glut1 mom from Finland, has been busy raising awareness and spreading education about Glut1 Deficiency in Finland and Sweden. She attended a special event at the children's hospital in Helsinki for Rare Disease Day, and she has been sharing information with healthcare professionals. We worked with Heidi and her medical team to translate the G1DF brochures into Finnish, which Heidi has been using in her efforts.
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European Glut1 Deficiency Organisation
On April 11th, three leaders of patient advocacy groups in Europe came together to sign the chartering documents for the newly formed European Glut1 Deficiency Organisation. This will be an umbrella organization to bring together Glut1 patient advocacy organizations and other stakeholders from countries across Europe.
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We are excited to see this progress and look forward to working closely with them to bring help and hope to the global Glut1 community. Featured in the picture are Glut1 parents left to right - Nuria Alvargonzalez from Spain (asGLUTdiece), Massimiliano Barone from Italy (Associazione Italiana Glut1), and Agnieszca Bichniewicz from Poland (Fundacja GLUT 1 Poland). Massimiliano (Max) will serve as the first President of the European Glut1 Deficiency Organisation. Congratulations to everyone involved!
Save the Dates
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Patient Stories
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Olivia
This newsletter edition features a patient story from the lovely and inspiring Olivia Guziewicz from New Hampshire. Olivia is a young adult with Glut1 Deficiency who has worked hard to keep learning and growing and making her life with Glut1 a good one. We appreciate the valuable insights and experiences Olivia shares. Please visit our website to read Olivia's story and to share yours, too! |
Families in the News
Silas and Kane’s Glut1DS & Ketogenic Diet Journey
The adorable Silas and Kane, two young twin brothers affected by Glut1 Deficiency, are featured in a recent story on MyKetoCal. Read more about them and how their parents have found a way to juggle life with twins, Glut1, and keto!
Dallas Researchers Decode Secrets to Epilepsy in Genetic Testing
Ryan Olin and his family are featured in a news story out of Dallas, highlighting an initiative at UTSW to rescreen genetic samples with new methods to identify and diagnosis diseases. Watch the inspiring story here, which also features Dr. Jason Park at UTSW, one of our recent research grant award recipients.
The adorable Silas and Kane, two young twin brothers affected by Glut1 Deficiency, are featured in a recent story on MyKetoCal. Read more about them and how their parents have found a way to juggle life with twins, Glut1, and keto!
Dallas Researchers Decode Secrets to Epilepsy in Genetic Testing
Ryan Olin and his family are featured in a news story out of Dallas, highlighting an initiative at UTSW to rescreen genetic samples with new methods to identify and diagnosis diseases. Watch the inspiring story here, which also features Dr. Jason Park at UTSW, one of our recent research grant award recipients.
Family Functions
Frint Family
Glut1 mom Tina Frint from Wyoming works as a nurse by day and has recently started a handmade soap business, C & C Soaps and Such, to provide a creative outlet and an opportunity to support a cause near and dear to her. 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 are being donated to the Glut1 Deficiency Foundation, and you can place an order at her website. If you are interested in setting up a recurring monthly order for the featured Love Some1 with Glut1 soap, please email Tina. |
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Million Dollar Bike Ride - Meisner Family
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We are excited to share that the Glut1 Deficiency community will be represented again for the third time in the Million Dollar Bike Ride (MDBR) sponsored by University of Pennsylvania’s Orphan Disease Center (ODC) on Saturday June 8, 2019. The ride starts in Philadelphia and distances include 13, 34, and 72 miles.
The MDBR has been established to raise funds for rare disease research. With over 30 rare disease teams represented in the event, each team raises funds to support a seed grant that is managed and run through the Orphan Disease Center. 100% of registration fees and donations go directly to our grant. Once a disease team has raised the minimum fund amount, a 100% match is applied by a generous anonymous donor to the ODC and requests for Research Proposals are sent out.
In five years, the MDBR’s disease teams have raised over $8 million to fund research. Over $85,000 has gone directly to Glut1 Deficiency research for our community from our 2 years of having a registered team. Our goal in 2019 is to raise $20,000 or more and be able to sponsor a resulting grant of $40,000 or more with help from the ODC.
As this event grows, we welcome more of the Glut1 Deficiency community to come join us. Please contact Erin Meisner (emeisner@g1dfoundation.org) should you be interested in riding, volunteering or being involved this year, in 2020, or in the future! With research, possibilities are limitless!
More information can be found here: http://www.milliondollarbikeride.org.
To register for the Glut1 team: http://www.milliondollarbikeride.org/2019-cyclist-registration/
The MDBR has been established to raise funds for rare disease research. With over 30 rare disease teams represented in the event, each team raises funds to support a seed grant that is managed and run through the Orphan Disease Center. 100% of registration fees and donations go directly to our grant. Once a disease team has raised the minimum fund amount, a 100% match is applied by a generous anonymous donor to the ODC and requests for Research Proposals are sent out.
In five years, the MDBR’s disease teams have raised over $8 million to fund research. Over $85,000 has gone directly to Glut1 Deficiency research for our community from our 2 years of having a registered team. Our goal in 2019 is to raise $20,000 or more and be able to sponsor a resulting grant of $40,000 or more with help from the ODC.
As this event grows, we welcome more of the Glut1 Deficiency community to come join us. Please contact Erin Meisner (emeisner@g1dfoundation.org) should you be interested in riding, volunteering or being involved this year, in 2020, or in the future! With research, possibilities are limitless!
More information can be found here: http://www.milliondollarbikeride.org.
To register for the Glut1 team: http://www.milliondollarbikeride.org/2019-cyclist-registration/
Ruggiero Family
The Ruggiero Family hosted several events recently to benefit the G1DF in honor of their daughter, Allison. They held a bake sale at their church, Our Lady of Consolation in Wayne, NJ during CCD programs. Lots of awareness was raised by their efforts and another $869.28 toward the Love Some1 with Glut1 campaign. We are grateful for everyone in their community who has helped so much.
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UPenn for Colin Leight
Colin Leight's mom, Jennifer, works at the amazing Center for Cellular Immunotherapies at UPenn where they work hard every day to fast track the development of new treatments in immunotherapy. They have taken our community under their wing as well and hosted another awareness day and FUNdraiser event on Rare Disease Day that raised over $1,000 for our Love Some1 with Glut1 campaign. We are grateful to Jennifer and all her friends and colleagues for their support.
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Palmer Family
Morgan Palmer had an abundance of friends and family members to help her celebrate her 18th birthday on February 16th in Neptune, New Jersey. A huge crowd came to show their support for her Bowling Birthday Bash to Strike Out Glut1 - raising lots of awareness and $7,688 for the Love Some1 with Glut1 campaign. Thanks to everyone involved in this fantastic and fun event and helping support Morgan and everyone in the Glut1 community.
IRISH for a CURE - Foy Family
The Foy family hosted their famous, annual IRISH FOR A CURE event in Clayton, New Jersey on March 16th in honor of their daughter, Colleen, and to benefit the mission of the Glut1 Deficiency Foundation. Thank you, Nancy and Mike, and everyone who is a part of your village who gives so much to ours!
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Facebook Fundraisers
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We also would like to take the opportunity to thank those who have done special fundraisers on Facebook, which not only help contibute funding support for our mission, but also are important because they provide great opportunities to raise awareness to new audiences, too. We thank all who have organized or donated to one of these events. Total giving through Facebook since our winter newsletter was $3,878.66 - we are so grateful!
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Kim Fuller Spain Kelly Tuffy Theresa Marie Joanna Snyder John Steele Stephanie Lynn Ali Saghai Leslie Holleman |
Noa Eshman Angela Walker Lynette LaRue Taylor Cullison Ashley Handshey Emma N Ronnie Emily Wheatley Stephanie Lynn Peters |
Tina Plummer
Jennifer Green Young Charlene Fourie DeSot Terri Weldon Oksana Klochan Christer Rosendahl Trudy Morgan Beth Lewis |
Free and Easy Giving
We want to keep reminding you 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 - thank you!
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