Hope For Hypothalamic Hamartomas - January 2022
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Hope for HH is pleased to announce the election of the Board Officers:
Erica Webster (President)
Lisa Soeby (Vice President)
Kimberly Ranson (Treasurer)
and Kathy Jensen (Secretary)
Board Member Emma Nott continues to drive awareness initiatives and support our research efforts. Kristy DeBowes is our newest Board Member and will be supporting our information, support, and awareness efforts.
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We are forever grateful for the continued volunteer service of our dedicated board members who each work tirelessly to improve the lives of those living with HH. They represent 90 years of combined experience dealing with HH.
Learn more about our Board Members and why they are so passionate about volunteering their time and efforts to Hope for Hypothalamic Hamartomas.
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Announcing New Board Member: Kristy DeBowes
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We are excited to have Kristy DeBowes joining the Hope for HH organization as a Board Member. Kristy initially joined us in early 2021 as a volunteer on the Information Committee and instantly proved to be a passionate advocate for our community and an invaluable resource on our website redesign team.
Kristy will be sharing her expertise to help us achieve our goals and initiatives while supporting our Information, Support, and Awareness Committees. To learn more about Kristy you can read her bio here.
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Hope for HH Funds New Research in 2022
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Hope for HH recently collaborated with the American Epilepsy Foundation (AES) to co-fund a $20,000 Seed Grant to support the Development of a Mouse Model for Hypothalamic Hamartoma.
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In the past, the ability to study hamartoma tissue surgically removed from patients has provided key insights into the potential genetic causes of HH and the cellular biology and physiology of HH tumors. However, with the introduction of laser surgery for HH, this tissue is no longer collected in significant quantity and is not widely available to the research community. No animal models of HH have been described in the scientific literature, and this is a major impediment to research and to the development of new therapies.
The studies supported by this Seed Grant will form the basis for further investigations into the potential for these lesions to generate seizure activity and the development of cognitive and endocrine comorbidities experienced by patients with HH. The development of mouse models of HH will transform basic and translational research towards a better understanding of hypothalamic hamartomas (HH).
Identifying the mechanisms of HH and the links between HH and epilepsy will have beneficial impacts not only for the HH community but potentially for studying and treating other types of tumor-associated and pediatric epilepsies as well.
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Research is the key to improved treatments and a future cure.
Please consider making a donation.
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5th International HH Symposium
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Hope for HH Medical Advisory Board member, Julia Jacobs-LeVan MD, M.Sc., Director, Pediatric Epilepsy Program at the Alberta Children’s Hospital is hosting the 5th International Symposium on Hypothalamic Hamartomas in Calgary, Alberta on September 9-11, 2022.
Clinicians, investigators, and researchers will gather for a two-day research symposium on hypothalamic hamartomas (HH), a rare syndrome commonly associated with a spectrum of clinical, endocrinologic, and psychosocial comorbidities including refractory epilepsy, precocious puberty, and rage behaviors. It is unique due to subcortical location of the seizure onset and typically occurring gelastic seizures. Over a lifetime, affected patients often experience more frequent and severe seizures as well as developmental regression and devastating psychiatric and behavioral comorbidities. The topic “Hypothalamic Hamartoma: A Lifelong Syndrome!” has been selected in discussion with the medical advisory board as well as affected families organized in Hope for HH. It was felt that little is known about the lifelong effects of HH on health, quality of life, and treatment options.
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To learn more about our past symposiums check out our website here.
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Microsurgical management of complex hypothalamic hamartomas in the era of minimally invasive therapy: a case series and narrative review
Authors: Kurt R.Lehner MD, Randy S.D’Amico MD, RalphRahme MD, Julia R.Schneider BS, Gloria G.Privler BA, Lukas J.Faltings BS, Victor X.Du MD, John A.Boockvar MD, Harold L.Rekate MD, David J.Langer MD
Abstract:
Introduction: There has been a paradigm shift in the management of hypothalamic hamartoma (HH) from traditional microsurgical techniques to less invasive alternatives. However, large and extensive HH may fail to respond to these therapies, ultimately necessitating craniotomies.
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Hope for HH will join forces with the over 400 million people globally who are living with a rare disease. We stand together with these individuals and health care advocates around the world for Rare Disease Day® on February 28. Rare Disease Day is an annual awareness day dedicated to elevating public understanding of rare diseases and calling attention to the special challenges people face.
Everyone can have an impact whether pledging your time, skills, voice, or dollars to support Hope for HH.
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