Spring 2018 Newsletter
Love Some1 with Glut1
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We'd like to thank everyone who participated in our 2018 annual Love Some1 with Glut1 campaign, either as an individual fundraiser, a donor, or both! 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 raised $79,564 from 624 individual donors. Once some matching gifts arrive, the total will bump past $80,000. These much-needed and greatly appreciated funds will help us continue our program services to bring help and hope to the Glut1 Deficency community through awareness, education, advocacy, and research. |
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You can read more about the campaign and the inspirational stories of those who joined in the efforts. JR Rapaport, Dalton Stoddard, and Ethan Neumann 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 took part.
Please take a few minutes to take part in our survey about the fundraiser, whether or not you participated. The survey is 14 questions and should take about 5 minutes to complete, and you'll be eligible for prize drawings! Your feedback is important and valued and will help us make sure we are doing our best in this area. Thank you!
Please take a few minutes to take part in our survey about the fundraiser, whether or not you participated. The survey is 14 questions and should take about 5 minutes to complete, and you'll be eligible for prize drawings! Your feedback is important and valued and will help us make sure we are doing our best in this area. Thank you!
Research News
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It was a privilege for the Glut1 Deficiency Foundation to be featured with Dr. Juan Pascual in UT Southwestern's Alumni and Giving publication. You can read more about the partnership we've created and the hard work he does daily on behalf of our community. The support the G1D Foundation has provided to his efforts could not be possible without your help - thank you!
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There's a followup paper with more research from the team in Japan doing studies on gene therapy for Glut1 Deficiency. Please see our link to Recent Publications at the bottom of the newsletter for other relevant work published recently.
Registry
We are fortunate as a rare disease community to have a patient registry. Even though people with Glut1 Deficiency have many similarities, each patient and family has unique experiences. If you are not participating in the patient registry, and unless you are under the care of a doctor who is conducting research or writing case reports, your experiences are not being shared, compiled or added to the greater pool of knowledge and understanding about Glut1 Deficiency. The more you share, the more we all learn.
By filling out the online questionnaire, you will be contributing valuable information about this disease that will guide researchers as they search for therapies and improved diagnostics. Your responses will also help researchers understand what is important to you as a patient or patient caregiver. This information will help guide future research and program development. Please find more information about the international Glut1 Deficiency Registry at www.G1DRegistry.org.
Educational Video Project
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Rob Rapaport worked hard for several months putting together the family and professional interviews from our Nashville conference last year. We have been sharing those along the way, and we hope you've been able to watch the families share their experiences and the professionals share their expertise on many different topics.
We had the pleasure of traveling to Columbia University Irving Medical Center recently to do some more filming, and the first of those videos is now available. Kris Engelstad has an excellent talk about the genetics of Glut1 Deficiency. |
You'll find all the finished videos at our website and on our Youtube channel, and stay tuned for a couple more special additions.
National Walk for Epilepsy
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We enjoyed a beautiful day on the National Mall in Washington, DC last month during the National Walk for Epilepsy, and the Glut1 Deficiency Foundation had its first team ever in the 12 year history of the walk.
We had 12 fun and energetic team members, and we also got to see many other friends and familiar faces along the way. It was a warm and cloudless day, the cherry blossoms were in bloom, and it was a wonderful feeling being united with thousands of others there to support one another, raise awareness, and help provide over $1 million in funding to the Epilepsy Foundation of America. Our team raised $645 towards the efforts, and the great experience was priceless. Our yellow shirts got quite a bit of attention, and we tried to spread some education and awareness while we were there. We hope to make this an annual event and would love to have more join us next year. Spending time in DC with our Glut1 family members also made all of us very excited for next year's conference, and we hope many of you will be able to join us for that, too! |
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2019 Glut1 Deficiency ConferenceWe want everyone to know we are hard at work on planning for our next opportunity to get together to meet, share, and learn - July 2019 in Washington, DC. The agenda is coming together, some wonderful and unique social activities are being planned, and we have a goal to open registration later this summer. In the meantime, we are working on securing some sponsorships that will hopefully help reduce registration fees for our families.
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, so mark your calendars! Please continue to check our website and future newsletters for updates, and we hope to see all of there. |
Educational Exhibits
The G1D Foundation has had a busy spring with many opportunities to spread awareness and education. We thank all involved in helping to better educate the medical profession and help those without a diagnosis be found.
- Sandra Ojeda took part in the Rare Disease Day activities at Baylor University Medical Center in Houston and hosted an educational booth. This is a growing annual event, and Sandra reports getting to talk with a wide variety of people about Glut1 Deficiency.
- Kenneth Munroe at Sanofi Genzyme shared educational materials about Glut1 Deficiency at his company's Rare Disease Day activities in Massachusetts. Sanofi Genzyme is supporting research on gene therapy at Columbia University Irving Medical Center under the direction of Dr. Umrao Monani and Dr. Darryl De Vivo. The G1D Foundation also helps support this research.
- Maria Rebbecchi and Erin Meisner hosted an educational exhibit at the National Ataxia Foundation meeting in Philadelphia in April. It was a good opportunity to educate more people in the area of movement disorders.
- Glenna Steele exhibited at the American College of Medical Genetics and Genomics annual meeting in April in Charlotte. This was the first time the G1D Foundation took part in this meeting, and it was a very successful experience.
- June Lipps, Rachel Kuypers, and Brad Lukesh joined Glenna Steele at the American Academy of Neurology annual meeting in Los Angeles in April. This meeting is a particularly good opportunity to reach adult neurologists, where we know there are many patients still looking for a diagnosis and proper treatments.
- Exhibits are planned in June at the European Academy of Neurology annual congress in Lisbon, the Matthew's Friends Keto College near London, and at the 2nd European Conference on Glut1 Deficiency to follow.
Baylor Rare Disease Day
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American Academy of Neurology
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American Academy of Neurology
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National Ataxia Foundation
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American College of Medical Genetics and Genomics
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International Glut1 Deficiency community updates
European Conference on Glut1 Deficiency
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We are very much looking forward to the European Glut1 Deficiency meeting next month in East Grinstead, England. The G1D Foundation will host a booth, and we are eager to hear the presentations from experts from the United States and across Europe. We also are excited to meet many of our long-distance Glut1 families in person for the first time and have a chance to visit with old friends. You can find more details at Matthew's Friends website, including the agenda, registration links, and hotel discount information. Registration closes on May 31st. We will be sure to share any resources, presentation notes, etc. provided once they are available. 
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Glut1 Deficiency Federation
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Massimiliano Barone, president of the Italian Glut1 Association, is leading the efforts to establish a European Federation of Glut1 Deficiency, bringing together all the formal and informal parent advocacy groups across the continent. The G1D Foundation is very excited about this new partnership and we look forward to working together to better help and serve the entire global Glut1 Deficiency community. We will get to meet with Massimiliano and other leaders while in Europe for the conference in June. |
Argentina Meeting
We are very pleased to be involved in this opportunity for professionals and families in Argentina and other parts of South America 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.
Patient Group in Japan
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The Glut1 Deficiency patient group in Japan recently celebrated their 10th anniversary. We were honored to have several submissions for our 2018 Love Some1 campaign video from their community, and we were equally honored to be asked to include a special message in their 10th anniversary keepsake book. We asked President Tomoko Furuta to share a message here below:
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The Glut1 patient group in Japan turns 10 years old. We have our conference every two years. Our 10th anniversary conference was held in Nagoya, Japan on August 26th, 2017. This conference consisted of 3 sessions: meeting, studying and gathering. We had the members meeting on our group annual activities and financial reports in the morning. There were professional presentations on Glut1 DS and the ketogenic diet in the afternoon. After that, we had group discussions for professionals and patients. At night, we a had ketogenic diet buffet with professionals and Glut1 families. We prepare ketogenic diet meals for Glut1 patients at every conference so that the families do not worry about their special foods. Some stayed together over night at the accomodation.
This biennial conference is a very precious event for us to spend time with professionals and Glut1 friends from all over Japan. We are also looking forward to seeing all of you in the US soon.
This biennial conference is a very precious event for us to spend time with professionals and Glut1 friends from all over Japan. We are also looking forward to seeing all of you in the US soon.
New Website for Spanish AssociationThe Association for Glut1 Deficiency in Spain has launched a beautiful new website full of great information about Glut1 Deficiency and the ketogenic diet. This is an important resource for the Spanish-speaking members of our community.
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Rare Disease Day in RussiaThe Russian Society of Rare and Orphan Diseases organized a conference in Moscow dedicated to International Rare Disease Day. There were presentations, product exhibits, and a chance for those in the rare disease community to share experiences and important social connections.
Five Glut1 Deficiency families from Russia attended, and we appreciate Irina Paramonova sharing a summary and some wonderful photos from the event. |
New App from Italy
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The Association for Glut1 Deficiency in Italy has teamed up with the Polytechnic Institute of Milan and the University of Pavia to create KETONET - a free, easy to download database of nutritional information and recipes. It also includes an interface with the ketogenic medical team in order to facilitate maximum communication and flow of information, from menus to clinical data, between patients and their doctors.
It is also applicable to any of the ketogenic diets - Classical, Modified Atkins Diet, MCT Diet, and Low Glycemic Index Treatments. This App will help make it easier to personalize the diet for individual medical needs and also for patient tastes, which will help optimize effectiveness and compliance. Currently the App is available in Italian. |
Ask the Expert |
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The Ask: Glut1 Deficiency mom April Breen from Lockport, New York
It seems that Glut1 Deficiency is such a wide spectrum where one person may be mildly affected and another person has more complex medical issues, even differing in types of symptoms (some having no seizures at all). Are there any correlations between symptoms/severity and the type of mutation and its location on the SLC2A1 gene? |
The Expert: Kris Engelstad, MS, CGC - Columbia University Irving Medical Center
SLC2A1 gene mutations can vary between those that completely inhibit protein production from the affected allele (gene) to mutations that allow for some protein production. In the latter case, the protein may be altered in some manner which does not allow for a fully functioning allele. Most often these semi-functioning alleles are caused by missense mutations, however not all missense mutations provide for protein production. Additionally, it is possible to have a missense mutation that does not at all impair protein production; thus the physician should take care to assess whether the mutation is harmful. Mutations that alter the reading frame, create nonsense messages, as well as deletions would be the most harmful mutations affecting the SLC2A1 gene.
SLC2A1 gene mutations can vary between those that completely inhibit protein production from the affected allele (gene) to mutations that allow for some protein production. In the latter case, the protein may be altered in some manner which does not allow for a fully functioning allele. Most often these semi-functioning alleles are caused by missense mutations, however not all missense mutations provide for protein production. Additionally, it is possible to have a missense mutation that does not at all impair protein production; thus the physician should take care to assess whether the mutation is harmful. Mutations that alter the reading frame, create nonsense messages, as well as deletions would be the most harmful mutations affecting the SLC2A1 gene.
Family Stories
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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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Drake
This edition we feature a new story from the Lane family. Drake is one of the estimated 10% of Glut1 Deficiency patients who do not have seizures, but have movement disorders as the main symptom. His mom, Debra, has created a wonderful blog resource with information, recipies, and snapshots from their daily life - glut1ataxia.com.
Please visit our website patient stories section to read more about Drake and his journey.
This edition we feature a new story from the Lane family. Drake is one of the estimated 10% of Glut1 Deficiency patients who do not have seizures, but have movement disorders as the main symptom. His mom, Debra, has created a wonderful blog resource with information, recipies, and snapshots from their daily life - glut1ataxia.com.
Please visit our website patient stories section to read more about Drake and his journey.
Patient Travel Resources
For families who need to travel for expert care, there are some resources available to help provide transportation and help cover some of the travel expenses. Please find out more below and follow the links for additional information.
Angel Flight
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J. Kiffin Penry Travel Fund
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Angel Flight East (AFE) is a nonprofit organization dedicated to serving the community by facilitating free air transportation to children and adults in need of medical treatment far from home and other compelling needs. AFE’s footprint is Virginia to Ohio to Maine. For destinations beyond that, they link up with other volunteer pilot organizations. There is no charge for the services provided by Angel Flight East. Volunteer pilots use their own aircraft and take on all costs of the flight including fuel, landing fees, and other expenses. Please visit their website to learn more.
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The J. Kiffin Penry Patient Travel Assistance Fund provides reimbursement of travel expenses for eligible patients and their families who have had to travel more than 50 miles from their home to receive FDA-approved medical care and/or treatment for their epilepsy/seizure disorder, but lack adequate financial resources to meet the cost of this travel without bearing financial hardship. Please visit the Epilepsy Foundation of America's website to find out more information.
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Family News
DominicDominic Rebbecchi was featured in an article from Children's Hospital of Philadelphia (CHOP), where he is part of their Dietary Treatment Program. The story highlights the amazing things that can happen when Glut1 Deficiency is treated with a ketogenic diet.
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SamSam Walker's grade 2/3 class hosted a Love Some1 with Glut1 fundraiser on Valentines Day. The Signal Hill Elementary school students from the village of Pemberton, British Columbia, Canada raised $254 selling “Glut1 Grams” to the student body.
This isn't the first time Sam's school has shown their love. See their energetic and adorable cheer in the video! |
DylanKatherine Edwards Middle School and STEM Academy in Whittier, California celebrated Rare Disease Day and honored their fellow Royal student, Dylan Lipps. Dylan was featured on the school's marquee, and the morning announcement team interviewed Dylan and his mom, June. June shared some information about Rare Disease Day, Glut1 Deficiency, and what life is like for Dylan so his teachers and fellow classmates can better understand and help.
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Braden
The Middle School of Plainville, Connecticut held a fundraising and awareness campaign in honor of their student, Braden Shumbo, during the Love Some1 with Glut1 campaign. Braden got to spread some education and put his advocacy skills to work since he helped plan the event with the help of his resource teachers!
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Macie
Some of the staff and students at Bath County High School in Owingsville, Kentucky wore Love Some1 with Glut1 shirts on Rare Disease Day to show their support for Macie Steele and help raise awareness at the school. Macie's family had the shirts made locally and provided them for the event, but there are plans underway to set up a storefront on the G1D Foundation website to make these (and a few other items) available to everyone. Stay tuned!
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Jennifer and Colin
Jennifer Leight Focht held a fun awareness event at work to raise funds for the Love Some1 with Glut1 campaign in honor of her son, Colin. She works in an amazing place doing amazing things, so their generosity and compassion is no surprise! The proceeds were donated through Colin's Love Some1 with Glut1 campaign page.
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Cleo and familyCleo Lapping was honored with a special evening of fun and fundraising at the The Queens Pub in Cwmbran, Wales, where her father, Jay, is friends with the owners. Siviters Building Company donated the prize that raised $275 in support of the G1D Foundation. Cleo's grandmother also sold her old iPad and added the proceeds to the total. We are grateful for all the ways Cleo's family helps the Glut1 community.
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Molly and JacksonThe Charles County Circuit Clerk's office in La Plata, Maryland hosts a dress down day each week where employees pay a small amount to wear jeans to work. The funds are collected and donated to different charities each year. We were honored to be chosen as this year's recipient as they paid tribute to their fellow coworker Molly, and her son Jackson, with their $700 donation!
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Irish for a Cure
The Foy family held their annual Irish for a Cure celebration in honor of their daughter, Colleen, on March 16th in Clayton Elks, New Jersey. They receive a lot of support from their family, friends, and community, and tickets always sell out quickly for this fun and much-anticipated event. We are so grateful for all the work they do and the ongoing support they provide for the work of the G1D Foundation.
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Several people have created fundraising pages on Facebook recently to benefit the Glut1 Deficiency Foundation. We'd like to thank them and have shared their names below. As you can see, every single donation is impactful.
Facebook's fundraising program is new and evolving, and it doesn't currently provide a way to contact fundraisers or donors directly so we can thank them properly, 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 Kelly Tuffy $435 Amy Cucaro $70 Karen Parker $81 Sienna Brown $200 Meghan Dailey-Faulhaber $200 Liz Bunting Dixon still counting! Nicole $420 Mindi Newman Wilson $450 Rabbi Naomi Levy $12,145 |
Other Facebook Fundraisers Elizabeth Chinault $911 Rachel Kuypers $535 Meredith Lynn $120 Emily Wheatley $142 Debra Kohn Lane $220 April Ash York $610 |
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 $5,650 for the G1D Foundation thanks to our supporters who have signed up to use them.
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