Summer 2020 Newsletter
Back to School
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It is back to school time for many families, but this year is different from any other we've experienced. As difficult decisions are being made about in-person or virtual attendance, keeping important accommodations and supports in place, and protecting medically fragile individuals, the Child Neurology Foundation has put together some excellent resources for helping make this difficult time a little easier and better informed.
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New Specific ICD-10-CM Diagnosis Code for Glut1 Deficiency
Glucose Transporter Protein Type 1 Deficiency Syndrome, or Glut1 Deficiency, has been assigned its own unique and specific ICD-10-CM diagnosis code in the upcoming addendum to the ICD system, which will take effect on October 1, 2020. Glut1 Deficiency will have the newly created E74.810 code, falling under the E category of diseases representing endocrine, nutritional, and metabolic disorders.
This represents a major milestone for the Glut1 Deficiency community and will be instrumental in future progress for better understanding and better treatments. Previously, a number of different generic codes were used, and there has been no way to accurately track patients and experiences across healthcare systems. The Glut1 Deficiency Foundation is thankful to Dr. Darryl De Vivo and Dr. Juan Pascual for their assistance in helping us submit this new code proposal.
Please find more information about this exciting news on our website and learn how you can help spread the news and encourage use of this new code.
This represents a major milestone for the Glut1 Deficiency community and will be instrumental in future progress for better understanding and better treatments. Previously, a number of different generic codes were used, and there has been no way to accurately track patients and experiences across healthcare systems. The Glut1 Deficiency Foundation is thankful to Dr. Darryl De Vivo and Dr. Juan Pascual for their assistance in helping us submit this new code proposal.
Please find more information about this exciting news on our website and learn how you can help spread the news and encourage use of this new code.
Scientific and Family Conference
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We are very much looking forward to our 9th Family Conference and our 1st Scientific Conference next summer in San Diego. We hope you will be able to join us in person for these special opportunities to meet, share, and learn. Due to some of the uncertainties around potential restrictions and regulations due to the COVID-19 pandemic, we have decided to delay the opening of registration until early 2021. Preliminary planning is underway with some basic agenda and overview details on our website. Don't forget that those who join our Family Network and Professional Network will be eligible for special discounts when registration opens. Please continue to check our website for additional details as conference planning moves along. |
New Board MembersThe Glut1 Deficiency Foundation was established and is governed by parents of Glut1 Deficiency patients, who serve 3-year volunteer terms on the Board of Directors. The first Board had five members, and the current Board has nine members who started their new terms at our July board meeting.
All previous eight Board members are staying on for another term to continue their service, and we are thrilled to announce the addition of Sandra Ojeda in a 9th seat, where she will serve in a newly created position of Science Director. Sandra has a long and productive relationship with the Glut1 Deficiency Foundation already as a volunteer in a number of projects, and we are thankful she will continue serving our patient community in this new role. |
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Sandra's Bio:
Sandra holds a BS in Microbiology from Universidad de los Andes in Colombia, a MS in Biochemistry and Molecular Biology from Universitat Autonoma de Barcelona in Spain and a PhD in Microbiology and Immunology from UT Health Science Center in San Antonio. She has worked on cancer research at MD Anderson Cancer Center and more recently, she has taught science at a private school. Currently, she is focused on her daughter’s well being while working at her school. Sandra and her family, husband Juan Manuel and daughter Sofia Mar, reside in Katy, Texas since 2006. Sofia Mar was diagnosed with Glut 1 Deficiency in 2012 at age 3 at Texas Children’s Hospital in Houston.
Sandra holds a BS in Microbiology from Universidad de los Andes in Colombia, a MS in Biochemistry and Molecular Biology from Universitat Autonoma de Barcelona in Spain and a PhD in Microbiology and Immunology from UT Health Science Center in San Antonio. She has worked on cancer research at MD Anderson Cancer Center and more recently, she has taught science at a private school. Currently, she is focused on her daughter’s well being while working at her school. Sandra and her family, husband Juan Manuel and daughter Sofia Mar, reside in Katy, Texas since 2006. Sofia Mar was diagnosed with Glut 1 Deficiency in 2012 at age 3 at Texas Children’s Hospital in Houston.
New Medical Advisory Board Members
The Glut1 Deficiency Foundation is honored and pleased to welcome three new additions recently to our Medical Advisory Board. We are thankful for all the clinicians and researchers who volunteer in this capacity and devote their time, expertise, and skills to our Foundation and to our community. See the full list of Medical Advisory Board members and Scientific Advisory Board members on our website and learn more about each.
Toni Pearson MBBS, MD
Dr. Pearson is a pediatric neurologist who specializes in movement disorders. She obtained her medical degree from the University of Adelaide Medical School in Australia and then pursued postgraduate residency and fellowship training in child neurology and movement disorders at Columbia University in New York. She currently directs the program for Pediatric Movement Disorders and Cerebral Palsy at Washington University and St. Louis Children’s Hospital where she also serves as an Associate Professor in Neurology. |
Beth Zupec-Kania RDN, CD
Beth is a world-renowned ketogenic expert, clinician, and speaker. She is a registered and certified dietitian and nutritionist. For over 25 years, she has coached medical professionals, patients and families through the safe and effective use of nutritional ketosis for neurological disorders, certain cancers and other metabolic based conditions that require careful formulation and laboratory surveillance. Alongside her private practice, she is the primary consultant for the Charlie Foundation. Her work is about health and hope. |
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Prof. Dr. Michèl Willemsen
Dr. Willemsen completed medical school and his residencies in pediatrics, pediatric neurology, and adult neurology at Radboud University Medical Center in Nijmegen, The Netherlands. He has been a professor of Pediatric Neurology at Radboud since 2012 where he also serves as the head of the Pediatric Neurology Department and the head of Radboud UMC Expert Centre for Genetic Movement Disorders. His fields of clinical and research interest include pediatric movement disorders, neurometabolic and neurodegenerative disorders, especially Sjögren-Larsson syndrome, Ataxia Telangiectasia, Glut1 Deficiency Syndrome, and neurotransmitter biosynthesis defects. Academic teaching contributions include international courses and research focused on the same disorders, leading to numerous publications. Dr. Willemsen is a member of the board of the Dutch Society of Pediatric Neurology, the European Pediatric Neurology Society, and the International Child Neurology Congress. He is a member of many other international organizations on pediatrics, neurology and inborn errors of metabolism; local and national committees on health issues linked to pediatrics and pediatric neurology; and scientific boards of international congresses. He is a member of the editorial boards of the European Journal of Pediatric Neurology, Neuropediatrics, and Developmental Medicine and Child Neurology. |
New Team Members
Thanks to support from the Chan Zuckerberg Initiative, we've been able to put into place some key people who will be instrumental in helping us plan our scientific meeting, build and launch our collaborative research network, ensure patient voice leads our research efforts, and develop a natural history study. Please meet these new additions to the team below.
Matthew Gentry, PhD - Science Advisor
Dr. Gentry brings a wealth of knowledge, experience, and remarkable success in helping drive progress in the Lafora Disease patient community - a devastating form of epilepsy also caused by impaired glucose metabolism (glycogen storage). Dr. Gentry will be working with the G1DF through the Science Advisor program as part of our CZI Rare As One Network, helping plan our scientific meeting, build our collaborative research network, and create a strategic research plan. We feel so fortunate that he is willing to serve our community in this capacity. Find out more about Dr. Gentry in the video below.
Dr. Gentry brings a wealth of knowledge, experience, and remarkable success in helping drive progress in the Lafora Disease patient community - a devastating form of epilepsy also caused by impaired glucose metabolism (glycogen storage). Dr. Gentry will be working with the G1DF through the Science Advisor program as part of our CZI Rare As One Network, helping plan our scientific meeting, build our collaborative research network, and create a strategic research plan. We feel so fortunate that he is willing to serve our community in this capacity. Find out more about Dr. Gentry in the video below.
Kari Luther Rosbeck - Mentor
Kari will be serving as Mentor to G1DF Executive Director Glenna Steele as part of the CZI Rare As One partnership with the Milken Institute's FasterCures initiative. Kari has been involved with nonprofit fundraising and management for nearly 30 years and has been the President and CEO of the Tuberous Sclerosis Alliance since 2007. She has a breadth and depth of a variety of skills and experiences and has brought tremendous progress to the TSC community through her leadership. Read more about Kari and the Tuberous Sclerosis Alliance here. |
Adrian Avila - Clinical Research Manager
Adrian has served as the Clinical Research Coordinator for Dr. Juan Pascual at UT Southwestern and Children's Medical Center Dallas and has worked with rare diseases and autism for many years. He will be using his wide range of experiences to also help the Glut1 Deficiency Foundation with a number of projects around building the collaborative research network, surveying patients and families, establishing a natural history study, developing meaningful patient outcomes for clinical trials, and managing regulatory protocols. |
Chan Zuckerberg Initiative Rare As One Network
In addition to the new team members The Chan Zuckerberg Initiative Rare As One Network has provided the Glut1 Deficiency Foundation, CZI continues to keep us learning and growing. The first Rare As One convening was held virtually in late July where we had the opportunity to hear presentations from all 30 of the grantees. Even though each of us represents a different rare disease, there are many overlaps that we hope to use to synergize our efforts across a number of potential areas.
We were also invited to participate in the CZI Neurodegeneration Challenge Network community convening, which provided an opportunity to hear from some of the grantees in that program who have overlapping science. There is a strong spirit of collaboration across all the CZI programs.
We were also invited to participate in the CZI Neurodegeneration Challenge Network community convening, which provided an opportunity to hear from some of the grantees in that program who have overlapping science. There is a strong spirit of collaboration across all the CZI programs.
Research News
Glut1 Deficiency Syndrome (Glut1DS): State of the Art in 2020
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We are anxiously awaiting the official publication of the consensus guidelines paper and the final version is expected any day now in Epilepsia Open. We thank Dr. Jörg Klepper for leading the effort and all those who contributed to this important resource. The G1DF has committed to pay open access fees to ensure that the full text is available free of charge to everyone who wants to read or download it. Dr. Klepper joined our Parent Zoom in July to give us an overview of the paper and answer questions. A transcript has been made available at our website. We will be sure to let everyone know when the final version of the consensus guideline paper is available online. |
Million Dollar Bike Ride - $60,000 Research Grant
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Thank you to all who helped us put our hope in motion for the 2020 Million Dollar Bike Ride! The Meisner family put together a wonderful video with submissions from our amazing Glut1 families who walked, ran, rolled, danced, rode, soared, swung, chopped, pushed, pulled, and hoped with us this year.
With your help and support and the generous matching funds from the Penn Medicine Orphan Disease Center, we reached our goal of raising $30,000 for a Glut1 Deficiency scientific research grant and will have our research dollars doubled to $60,000! The request for project proposals will go out soon, and we can't wait to see what comes from this collaboration - thank you again to all who helped, including Team Glut1, Team Taylor (Fields & Friends), Determination for Dominic, and Miles for Millie. |
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Research Biobank Repository
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The Glut1 Deficiency Foundation and Glut1 Deficiency families are helping facilitate the establishment of a biobank repository at Coriell Institute for Medical Research. The first of the biobank samples have been processed and validated and are ready and available in the catalog! We are fortunate to have iPSC, fibroblasts, and lymphoblastoid cell lines available now for any researcher interested in working with actual Glut1 Deficiency patient samples.
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Many of you took part in the collection drive at our conference last summer, and we are so grateful for the role you've played in helping make this important resource available. More sample submissions are welcomed and encouraged so more mutations (genotypes) and disease presentations (phenotypes) can be represented. If you are a patient/family and would like to find out more about contributing samples to the biobank, please contact Sherryann Wert or Jose Santana at Coriell.
Connecting Our Community
We have developed a Zoom program to provide opportunities for members of our community to meet up with others no matter where we live! These virtual gatherings give us social time to get to know one another better and offer support and encouragement, and we also have some sessions that are more educational in nature with topics and guest speakers.
We have several different groups meeting on a monthly basis. Make sure you're signed up for our Family Network to get notices, details, and registration links for the meetings. |
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Educational Exhibits
Unfortunately, but not surprisingly, all of our planned exhibits have been canceled or postponed from March through the remainder of 2020. We have had the opportunity to participate in a number of webinars, trainings, and consortiums, though, that have been helpful in a variety of areas and allowed us the opportunity continue to raise awareness of Glut1 Deficiency. We look forward to hopefully resuming our in-person professional medical meeting exhibits in 2021.
Family Network and Professional Network
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 as we work for better understanding, better treatments, and better quality of life for Glut1 Deficiency patients and those who love them. 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 and special activities, share feedback, contribute personal experiences, help identify needs, and help prioritize research and the work of the Glut1 Deficiency Foundation.
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Family News
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Listen to Your Gut and Don't Take "No" for an Answer by Kelly Jones, Communications Director for the Glut1 Deficiency Foundation
Every Glut1 Deficiency patient has a different road to travel, not only to a diagnosis, but with the specific effects they live with as a result of Glut1. This is Chris Holleman’s story. Chris is 22 years old and is the oldest of four brothers. He loves the Indiana Pacers, the Indianapolis Colts, the Dallas Cowboys, and his dogs, Belle and Daisy. Chris lives with his parents, Lloyd and Leslie, and brothers Ryan (19), Luke (15), and Sam (13), in Westfield, Indiana. Chris began having seizures between the ages of one and two years old. As is common with many of our Glut1 patients, many different seizure medications were tried. The medications either didn’t help or came along with undesirable side-effects.
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“One night, Lloyd sat down at our clunky, boxy computer with the dot-matrix printer and found the World Wide Web,” said Leslie. “He found The Charlie Foundation website and learned about the ketogenic diet. We watched the movie ‘First Do No Harm’ and decided that we needed to talk to his doctors about trying the ketogenic diet.” Chris’ doctors were resistant to trying the diet and didn’t think that it would help. Lloyd and Leslie were not about to take no for an answer and pushed harder. They compiled all of Chris’ medical records and sent them to the Epilepsy Center of the Department of Neurology and Neurosurgery at Johns Hopkins to see if Chris would be a good candidate for the ketogenic diet. Chris began the diet at age two and it made an incredible difference for him.
After two years, Chris’ doctors wanted to start weaning him from the diet. Typically, in general epilepsy, if seizures have been well controlled for two years, the patient is gradually taken off of the diet. “Every time we would try to take him off of the diet, his seizures returned. I just knew there was something else wrong,” said Leslie. The Holleman’s knew that they needed to keep searching for the answer. Little did they know that an accidental phone call would change Chris’ life.
“Did I ever tell you that I accidentally called Jim Abrahams from the Charlie Foundation at 5 a.m. in the morning?” laughed Leslie. Knowing exactly what she was going through as a parent, Jim was gracious on the phone and introduced Leslie to Beth Zupec-Kania. Beth is a Registered Dietitian Nutritionist who has managed ketogenic diet therapies since 1991 and is a consultant to The Charlie Foundation and a member of the Medical Advisory Board for the Glut1 Deficiency Foundation. Beth is also the designer of the online program for creating ketogenic diets, the KetoDietCalculator. One day, Leslie received a phone call from Beth who was attending a medical conference. During a lecture, Beth learned about Glut1 Deficiency Syndrome and told Leslie she really thought that could be what was going on with Chris. After being tested, Chris was diagnosed with Glut1 Deficiency one month before his 10th birthday.
After two years, Chris’ doctors wanted to start weaning him from the diet. Typically, in general epilepsy, if seizures have been well controlled for two years, the patient is gradually taken off of the diet. “Every time we would try to take him off of the diet, his seizures returned. I just knew there was something else wrong,” said Leslie. The Holleman’s knew that they needed to keep searching for the answer. Little did they know that an accidental phone call would change Chris’ life.
“Did I ever tell you that I accidentally called Jim Abrahams from the Charlie Foundation at 5 a.m. in the morning?” laughed Leslie. Knowing exactly what she was going through as a parent, Jim was gracious on the phone and introduced Leslie to Beth Zupec-Kania. Beth is a Registered Dietitian Nutritionist who has managed ketogenic diet therapies since 1991 and is a consultant to The Charlie Foundation and a member of the Medical Advisory Board for the Glut1 Deficiency Foundation. Beth is also the designer of the online program for creating ketogenic diets, the KetoDietCalculator. One day, Leslie received a phone call from Beth who was attending a medical conference. During a lecture, Beth learned about Glut1 Deficiency Syndrome and told Leslie she really thought that could be what was going on with Chris. After being tested, Chris was diagnosed with Glut1 Deficiency one month before his 10th birthday.
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Being on the diet has changed Chris’ life
Chris graduated from high school in 2017. With the help of a job coach through his school, Chris was able to land his first job at Chick-fil-A. “It wasn’t challenging, “ said Chris. One of the skills that many Glut1 patients need help building is self-advocacy. “He was so excited to be working at his first job and we thought that he loved it,” said Leslie. “We were so proud of Chris for advocating for himself by telling us that he needed something more challenging than wiping food trays.” In October of 2019, Chris started an internship at Shepherd Insurance in Carmel, Indiana. He spent two days a week sorting and delivering mail. “I liked to deliver the mail and say hello to people,” said Chris. Due to COVID-19, the office has been closed since March. Leslie shared, “Chris is such a people person that it was a really good fit for him. If you find the right group to support your child, it’s absolutely great.”
In December of 2019, Chris was accepted into Same as U, a full day program for adults with intellectual and developmental disabilities that promotes life-long learning in a college-like atmosphere. During the closure due to COVID-19, Chris was able to continue attending Same as U via Zoom conferencing. He recently was able to start attending again with new safety protocols put into place. “My favorite part about Same as U is being with my friends,” said Chris.
Sharing Learned Experiences with the Glut1 Deficiency Community
We all know how rare Glut1 Deficiency is and have come to rely on each other for information. Leslie Holleman is in the unique position of not only having a son diagnosed with Glut1 Deficiency, but she has always worked in developmental services. “I was working with people who are disabled or have special needs even before Chris was born,” said Leslie, a Qualified Intellectual Disabilities Professional. In 2017, Leslie was invited to be a presenter at the Glut1 Deficiency Foundation Family Conference held in Nashville, Tennessee. Her presentation, “Creating Positive Outcomes in the Glut1 Life” was extremely informational and presented to a packed room of parents. She was again invited to be a presenter at the 2019 conference in Washington DC, where she shared tips on keto independence and self-care.
“Leslie’s unique perspective, both professionally and as the parent of a Glut1 patient, brings a wealth of information to both our community of families and medical professionals,” said Glenna Steele, Executive Director of the Glut1 Deficiency Foundation. “The Holleman family has always provided a positive impact to our community, not only through Leslie’s willingness to share her experiences and knowledge, but also through Lloyd’s work as a founding Board Member for the Glut1 Deficiency Foundation.”
Chris graduated from high school in 2017. With the help of a job coach through his school, Chris was able to land his first job at Chick-fil-A. “It wasn’t challenging, “ said Chris. One of the skills that many Glut1 patients need help building is self-advocacy. “He was so excited to be working at his first job and we thought that he loved it,” said Leslie. “We were so proud of Chris for advocating for himself by telling us that he needed something more challenging than wiping food trays.” In October of 2019, Chris started an internship at Shepherd Insurance in Carmel, Indiana. He spent two days a week sorting and delivering mail. “I liked to deliver the mail and say hello to people,” said Chris. Due to COVID-19, the office has been closed since March. Leslie shared, “Chris is such a people person that it was a really good fit for him. If you find the right group to support your child, it’s absolutely great.”
In December of 2019, Chris was accepted into Same as U, a full day program for adults with intellectual and developmental disabilities that promotes life-long learning in a college-like atmosphere. During the closure due to COVID-19, Chris was able to continue attending Same as U via Zoom conferencing. He recently was able to start attending again with new safety protocols put into place. “My favorite part about Same as U is being with my friends,” said Chris.
Sharing Learned Experiences with the Glut1 Deficiency Community
We all know how rare Glut1 Deficiency is and have come to rely on each other for information. Leslie Holleman is in the unique position of not only having a son diagnosed with Glut1 Deficiency, but she has always worked in developmental services. “I was working with people who are disabled or have special needs even before Chris was born,” said Leslie, a Qualified Intellectual Disabilities Professional. In 2017, Leslie was invited to be a presenter at the Glut1 Deficiency Foundation Family Conference held in Nashville, Tennessee. Her presentation, “Creating Positive Outcomes in the Glut1 Life” was extremely informational and presented to a packed room of parents. She was again invited to be a presenter at the 2019 conference in Washington DC, where she shared tips on keto independence and self-care.
“Leslie’s unique perspective, both professionally and as the parent of a Glut1 patient, brings a wealth of information to both our community of families and medical professionals,” said Glenna Steele, Executive Director of the Glut1 Deficiency Foundation. “The Holleman family has always provided a positive impact to our community, not only through Leslie’s willingness to share her experiences and knowledge, but also through Lloyd’s work as a founding Board Member for the Glut1 Deficiency Foundation.”
“It feels like we’re home.”
When Chris was diagnosed with Glut1 Deficiency, Lloyd began researching it online. He found that the first ever family conference had happened in Chicago just two months prior. “We made sure to make it to the next one,” said Lloyd. “And we haven’t missed one since!” added Leslie. She continued, “When we go to a conference, we’re around people who get us. It feels like we’re home.” When asked what his favorite part about going to a conference is, Chris shared, “I like hanging out with my friends Claire, Drew, Dalton, Meredith, Macie, and Ben.”
Advice From a Glut1 Family 13 Years After Diagnosis
Lloyd says that they always do their best for inclusion, especially at home. “We try to serve Chris food that is as close to what we’re eating as possible. He might have a turnip when we’re eating potatoes.” One of the most important things, according to Lloyd, is finding a good dietitian and sticking with them.
Leslie shared that one of the most beneficial things to help Chris was working with a Behaviorist to help him to accept his Glut1 diagnosis. Also, focusing on what they can do is important for someone living with a disability or special needs.m“We never let what Chris can’t do get in the way.” She also suggested taking what your Glut1 patient likes and expanding on that. Leslie added, “If I had to do it all over again, I would have involved Chris more in the cooking of his own food to help with independence as he got older.”
Chris’ advice for new Glut1 patients and families: “You should follow the diet.”
When Chris was diagnosed with Glut1 Deficiency, Lloyd began researching it online. He found that the first ever family conference had happened in Chicago just two months prior. “We made sure to make it to the next one,” said Lloyd. “And we haven’t missed one since!” added Leslie. She continued, “When we go to a conference, we’re around people who get us. It feels like we’re home.” When asked what his favorite part about going to a conference is, Chris shared, “I like hanging out with my friends Claire, Drew, Dalton, Meredith, Macie, and Ben.”
Advice From a Glut1 Family 13 Years After Diagnosis
Lloyd says that they always do their best for inclusion, especially at home. “We try to serve Chris food that is as close to what we’re eating as possible. He might have a turnip when we’re eating potatoes.” One of the most important things, according to Lloyd, is finding a good dietitian and sticking with them.
Leslie shared that one of the most beneficial things to help Chris was working with a Behaviorist to help him to accept his Glut1 diagnosis. Also, focusing on what they can do is important for someone living with a disability or special needs.m“We never let what Chris can’t do get in the way.” She also suggested taking what your Glut1 patient likes and expanding on that. Leslie added, “If I had to do it all over again, I would have involved Chris more in the cooking of his own food to help with independence as he got older.”
Chris’ advice for new Glut1 patients and families: “You should follow the diet.”
Glut1 Graduates
2020 was a big year for our Glut1 Deficiency patient commuinty with many reaching big milestones in their educational careers. We knew this was a very unusual and difficult time for everyone and most have not been able to celebrate these special accomplishments the way they would like. We decided to put together a little video in their honor. Thanks to those who shared these special pictures with us, and thanks to G1DF board member Kelly Jones for putting it together. Congratulations! 🎉
Facebook Fundraisers
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We also want to thank all the Facebook fundraisers hosted since our Spring newsletter. These events were held in honor of birthdays and other milestones. We appreciate all who have organized or donated to one of these events and helped spread awareness and provided much-needed and impactful support. Total giving since our winter newsletter was $2,165.37!
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The Glut1 Deficiency Foundation is a nonprofit family organization dedicated to improving lives in the Glut1 Deficiency community through its mission of:
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Thank you for supporting our mission. |
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