MY EPILEPSY STORY
My epilepsy story—The Tuberous Sclerosis Alliance Jo Anne Nakagawa Epilepsia, 55(4):494–495, 2014 doi: 10.1111/epi.12497
The Tuberous Sclerosis Alliance (TS Alliance) was founded in 1974 by four mothers from California, U.S.A., who joined together to provide fellowship, generate awareness, pursue more knowledge, and provide hope to those that shared the common bond of facing the daily challenges of tuberous sclerosis complex (TSC). Back in 1971, a young 23-year-old teacher named Susan McBrine gave birth to her first daughter, Stacia. When Stacia was 3 weeks old, Susan saw some funny white spots on her baby. At around 8 months old, Susan began noticing her daughter starting to jerk her head down in a series of movements, crying constantly. According to Susan, she made several “frantic trips” to doctors, who each told her nothing was wrong. After an eventual TSC diagnosis, Susan wrote a letter to Exceptional Parent magazine, asking other parents to contact her. Within 2 weeks, she received 15 replies from across the country; three were from other mothers in California where Susan lived, so they got together to meet one another and share stories. Eventually, they started calling other parents. They wrote and mailed homemade newsletters and dreamed big. In 1975, the efforts of those four mothers paid off with the official incorporation of a nonprofit called the National Tuberous Sclerosis Association (NTSA), which is now known as the Tuberous Sclerosis Alliance (TS Alliance). Today, the TS Alliance remains committed to finding a cure for TSC while improving the lives of those affected by doing the following: (1) developing programs, support services, and resource information; (2) stimulating and sponsoring research; and (3) creating and implementing public Accepted October 25, 2013; Early View publication December 20, 2013. Director of Clinical Projects & TSC Clinic Liaison, Tuberous Sclerosis Alliance, Silver Spring, Maryland, U.S.A. Address correspondence to Jo Anne Nakagawa, Director of Clinical Projects & TSC Clinic Liaison, Tuberous Sclerosis Alliance, Silver Spring, Maryland, U.S.A. E-mail: [email protected] Wiley Periodicals, Inc. © 2014 International League Against Epilepsy
and professional programs designed to heighten awareness of the disease in the United States and worldwide. Moreover, the TS Alliance drives global outreach as a founding member of Tuberous Sclerosis Complex International (TSCi), a worldwide consortium of existing TSC associations and organizations. TSCi serves as an avenue to empower those affected by TSC, including individuals, families, caregivers, educators, and health care providers on six continents. In addition, TSCi provides a forum to share information, exchange ideas and methods, cofund research projects, and promote increased international awareness of TSC. On each May 15, TSC Global Awareness Day is celebrated worldwide to increase awareness of TSC. In 2013, the TS Alliance sponsored a “Where in the World Is TSC?” Website, where affected adults or children from 34 countries uploaded photos of themselves indicating where they were from in the world. Tuberous sclerosis complex is a genetic disorder that causes nonmalignant tumors (tubers) to form in vital organs, primarily in the brain, eyes, heart, kidney, skin, and lungs. The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability, and autism. Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States. Currently, there is no cure. Epilepsy is among the most common manifestations of TSC. More than 80% of individuals with TSC will have seizures, most often beginning in childhood. Approximately one third of those with TSC experience potentially devastating infantile spasms. Older children and adults may develop multiple types of seizures. More than 50% of those with TSC who have epilepsy will not respond to standard antiepileptic medications. The ketogenic diet, vagus nerve stimulation (VNS), and epilepsy surgery are alternative therapeutic options. In addition to >30 neurologists specializing in epilepsy care, the TS Alliance Professional Advisory Board includes
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a wide range of health care providers from a variety of specialties due to the disease’s varying effects on individuals. The organization invests heavily in driving TSC research, having funded more than $17.4 million in research grants since 1985. Collaborations between basic and clinical researchers are encouraged and fostered, and the TS Alliance works constantly to increase funding for research on TSC. In 2006, the Tuberous Sclerosis Alliance in partnership with a network of TSC Clinics launched the TSC Natural History Database (TSC Database), the first project to collect information about this inherited disease over a person’s lifetime. Updates about a research participant’s condition are entered in the database whenever the TSC Clinic has new information from a follow-up visit, hospitalization, or from diagnostic tests or procedures. Three peer-reviewed publications have resulted from information in the TSC Database. Moreover, the organization is currently planning for a new patient bio-registry to help bolster research efforts.
Research into TSC has the potential to affect many more individuals than only those affected by this rare disorder. Because a variety of clinical manifestations arise from a shared genetic pathway, TSC is considered a linchpin disease. This simply means that insights gained from the study of TSC directly affect the understanding of other major diseases with shared manifestations including epilepsy, autism, diabetes, and even cancer. Therefore, research into TSC may lead to a better understanding of and new treatments for other diseases. For more information about the TS Alliance, visit www. tsalliance.org or call (800) 225-6872. For more information about TSCi, visit www.tscinternational.org/.
Acknowledgment The author wishes to thank Jaye Isham, Steve Roberds, and Kari Luther Rosbeck for their assistance in writing this article.
Disclaimer Editor’s Note: Epilepsia’s Epilepsy Stories is a venue for non-profit organizations to educate our professional readership about their mission for people with epilepsy from around the world. Many organizations raise awareness about epilepsy including ILAE’s sister organization, the IBE and its chapters. Epilepsia does not endorse one organization over another. If you would like your non-profit organization recognized, please contact us at [email protected].
Epilepsia, 55(4):494–495, 2014 doi: 10.1111/epi.12497
My epilepsy story—The Tuberous Sclerosis Alliance Jo Anne Nakagawa Epilepsia, 55(4):494–495, 2014 doi: 10.1111/epi.12497
The Tuberous Sclerosis Alliance (TS Alliance) was founded in 1974 by four mothers from California, U.S.A., who joined together to provide fellowship, generate awareness, pursue more knowledge, and provide hope to those that shared the common bond of facing the daily challenges of tuberous sclerosis complex (TSC). Back in 1971, a young 23-year-old teacher named Susan McBrine gave birth to her first daughter, Stacia. When Stacia was 3 weeks old, Susan saw some funny white spots on her baby. At around 8 months old, Susan began noticing her daughter starting to jerk her head down in a series of movements, crying constantly. According to Susan, she made several “frantic trips” to doctors, who each told her nothing was wrong. After an eventual TSC diagnosis, Susan wrote a letter to Exceptional Parent magazine, asking other parents to contact her. Within 2 weeks, she received 15 replies from across the country; three were from other mothers in California where Susan lived, so they got together to meet one another and share stories. Eventually, they started calling other parents. They wrote and mailed homemade newsletters and dreamed big. In 1975, the efforts of those four mothers paid off with the official incorporation of a nonprofit called the National Tuberous Sclerosis Association (NTSA), which is now known as the Tuberous Sclerosis Alliance (TS Alliance). Today, the TS Alliance remains committed to finding a cure for TSC while improving the lives of those affected by doing the following: (1) developing programs, support services, and resource information; (2) stimulating and sponsoring research; and (3) creating and implementing public Accepted October 25, 2013; Early View publication December 20, 2013. Director of Clinical Projects & TSC Clinic Liaison, Tuberous Sclerosis Alliance, Silver Spring, Maryland, U.S.A. Address correspondence to Jo Anne Nakagawa, Director of Clinical Projects & TSC Clinic Liaison, Tuberous Sclerosis Alliance, Silver Spring, Maryland, U.S.A. E-mail: [email protected] Wiley Periodicals, Inc. © 2014 International League Against Epilepsy
and professional programs designed to heighten awareness of the disease in the United States and worldwide. Moreover, the TS Alliance drives global outreach as a founding member of Tuberous Sclerosis Complex International (TSCi), a worldwide consortium of existing TSC associations and organizations. TSCi serves as an avenue to empower those affected by TSC, including individuals, families, caregivers, educators, and health care providers on six continents. In addition, TSCi provides a forum to share information, exchange ideas and methods, cofund research projects, and promote increased international awareness of TSC. On each May 15, TSC Global Awareness Day is celebrated worldwide to increase awareness of TSC. In 2013, the TS Alliance sponsored a “Where in the World Is TSC?” Website, where affected adults or children from 34 countries uploaded photos of themselves indicating where they were from in the world. Tuberous sclerosis complex is a genetic disorder that causes nonmalignant tumors (tubers) to form in vital organs, primarily in the brain, eyes, heart, kidney, skin, and lungs. The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability, and autism. Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States. Currently, there is no cure. Epilepsy is among the most common manifestations of TSC. More than 80% of individuals with TSC will have seizures, most often beginning in childhood. Approximately one third of those with TSC experience potentially devastating infantile spasms. Older children and adults may develop multiple types of seizures. More than 50% of those with TSC who have epilepsy will not respond to standard antiepileptic medications. The ketogenic diet, vagus nerve stimulation (VNS), and epilepsy surgery are alternative therapeutic options. In addition to >30 neurologists specializing in epilepsy care, the TS Alliance Professional Advisory Board includes
494
495 J. A. Nakagawa
a wide range of health care providers from a variety of specialties due to the disease’s varying effects on individuals. The organization invests heavily in driving TSC research, having funded more than $17.4 million in research grants since 1985. Collaborations between basic and clinical researchers are encouraged and fostered, and the TS Alliance works constantly to increase funding for research on TSC. In 2006, the Tuberous Sclerosis Alliance in partnership with a network of TSC Clinics launched the TSC Natural History Database (TSC Database), the first project to collect information about this inherited disease over a person’s lifetime. Updates about a research participant’s condition are entered in the database whenever the TSC Clinic has new information from a follow-up visit, hospitalization, or from diagnostic tests or procedures. Three peer-reviewed publications have resulted from information in the TSC Database. Moreover, the organization is currently planning for a new patient bio-registry to help bolster research efforts.
Research into TSC has the potential to affect many more individuals than only those affected by this rare disorder. Because a variety of clinical manifestations arise from a shared genetic pathway, TSC is considered a linchpin disease. This simply means that insights gained from the study of TSC directly affect the understanding of other major diseases with shared manifestations including epilepsy, autism, diabetes, and even cancer. Therefore, research into TSC may lead to a better understanding of and new treatments for other diseases. For more information about the TS Alliance, visit www. tsalliance.org or call (800) 225-6872. For more information about TSCi, visit www.tscinternational.org/.
Acknowledgment The author wishes to thank Jaye Isham, Steve Roberds, and Kari Luther Rosbeck for their assistance in writing this article.
Disclaimer Editor’s Note: Epilepsia’s Epilepsy Stories is a venue for non-profit organizations to educate our professional readership about their mission for people with epilepsy from around the world. Many organizations raise awareness about epilepsy including ILAE’s sister organization, the IBE and its chapters. Epilepsia does not endorse one organization over another. If you would like your non-profit organization recognized, please contact us at [email protected].
Epilepsia, 55(4):494–495, 2014 doi: 10.1111/epi.12497
