curegsd1b

HELP US GET CLOSER TO A CUREFOR GSD1b

Board of Directors

Jamas LaFreniere

Founder, Board Member, and Sophie’s Dad

Jamas started Sophie’s Hope Foundation with his wife Margot within months of their youngest daughter Sophie being diagnosed with GSD1b. It then became very apparent to him that the GSD1b community needed to be organized and have a patient advocacy organization, which led to the creation of the CureGSD1b Alliance. Jamas is a graduate of Babson College with a BA in Business Management and Entrepreneurship. He has spent his entire professional career in technology sales with EMC and now Dell. Jamas’ passion to cure his daughter is the driving force behind Sophie’s Hope Foundation and now CureGSD1b, as well as making him a powerful voice in the rare disease community. Jamas lives with his amazing wife and two beautiful daughters in Massachusetts. Learn more about Jamas and his family below:

Margot LaFreniere

Board Member, Sophie’s Mom

Margot was instrumental in helping and pushing her husband to start the Sophie’s Hope Foundation and to create a patient advocacy organization for GSD1b. She was even more instrumental in pushing doctors for Sophie’s diagnosis and has been her biggest advocate from day one. Margot graduated from UMass Amherst and is a Registered Nurse at Dana Farber Cancer Institute in Boston, MA. Margot got into nursing to help people and is a fierce advocate for her patients. Her education and career in nursing makes her a huge boost for our organization. Learn more below:

Rabin Pournazarian

Board Member, Jonah’s Dad

Rabin and his wife Lora have been fierce supporters and advocates for GSD1b after their son Jonah was diagnosed in 2006. Over the years they have been a leading fundraiser for GSD1b, which has led to better treatment and major advances in research, specifically in gene therapy. Rabin and his wife Lora have also recently started their own 501c3 to continue raising money for a cure. The Pournazarian’s reside in sunny California with their 3 children. You can learn more about the Pournazarian’s and Jonah’s story below and please watch the video’s! The story is amazing

Stephanie Konieczka

Board Member, Jamie’s Mom

Stephanie and her husband Mark have been supporting GSD1b research and advocating for their daughter Jamie since her diagnosis in 2007 when she was 2 months old. Stephanie is a graduate of University of Iowa and holds a BA in Communications. Early on in her career she worked in marketing, but after Jamie’s diagnosis decided to stay home, and pause her career to provide the best care possible for her daughter, as they navigated the challenges associated with GSD1b. The Konieczka’s reside just outside of Chicago in Hinsdale, IL with their two amazing children and their dog Harley.

Cindy Delano Chen

Board Member, Dylan’s Mom

Cindy and her husband Joe have been long-standing supporters of GSD1b research and have been advocating for Dylan and others with GSD1b since she was diagnosed in 2011. Cindy is currently a co-founder and partner at Invictus Global Management, an investment firm based in Austin, Texas. The Delano’s have also been instrumental in helping fund important studies related to gene therapy for GSD1b. Cindy’s mission is to make a difference in the lives of people like her amazing daughter Dylan, by supporting research and medical advances, so that people born with GSD 1b can benefit from early detection, treatment, and ultimately a cure. The Delano family resides just outside of Austin in Driftwood, Texas.

Enrique Landelino Contreras Pulido “Lande”

Board Member, Nina’s Dad

Lande and his wife Marta have been advocating and raising money for GSD1b ever since their wonderful little girl, Nina, was diagnosed in 2018. As a Patients’ Advocate and a volunteer he is a member of the European Reference Network for Hereditary Metabolic Disorders, GSD1b Coordinator for the Spanish Association of GSD Patients, and Coordinator of several initiatives to raise awareness and support research for GSD1b through their platform (link at bottom). At work, Lande leads humanitarian operations together with multi-disciplinary and multi-cultural teams in highly complex contexts to protect and assist the people affected by armed conflict and other situations of violence. He has worked in countries such as Afghanistan, Yemen, Somalia, Colombia, Venezuela, South Sudan and Myanmar, among others, mostly with the International Committee of the Red Cross. He is a Graduate of the University of Granada in Law and Political Sciences and he holds an MBA. Lande, Marta, and Nina currently call Italy home and keep a strong connection to Spain since they have family and friends there as well. Please learn more and follow along below:

Gayle Temkin

Board Member, Alyssa’s Mom

Gayle Temkin has been the leading voice and advocate for GSD since her daughter Alyssa was diagnosed with GSD1a in 2006. Gayle and her husband Steve were the driving force behind the GSD clinic and gene therapy research lab moving to Connecticut. Although her daughter has Type 1a she is passionate about creating better care and ultimately a cure for all GSD’s. Gayle provides our board with incredible experience in fundraising and advocacy. The organization she founded; The Global Center for Glycogen Storage Disease is an incredibly important partner to CureGSD1b. We have a shared vision of collaboration and cooperation and creating a better world for patients with GSD. Gayle has also helped countless GSD families seek proper diagnosis and care through her organization, Alyssa’s Angel Fund. The Temkin’s reside in Connecticut with their two amazing daughters. Please read the incredible story below about Gayle and her daughter Alyssa.

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