MY EPILEPSY STORY
My epilepsy story—PCDH19 Alliance Julie Walters, Karin Wells-Kilpatrick, and Trista Pandeleos Epilepsia, 55(7):968–969, 2014 doi: 10.1111/epi.12555
(Left to right): Trista Pandeleos, Julie Walters, and Karin Wells-Kilpatrick of the PCDH19 Alliance with Paola Squillante from Insieme per la Ricera PCDH19, the Alliance’s Italian Sister organization.
There was very little known and very few patients had been diagnosed. Violet continues to be at risk for clusters of seizures with a fever, and to have cyanosis during her seizures. Julie Walters
Violet began having seizures at 11 months of age. We spent 2 1/2 weeks in a pediatric intensive care unit, transferred to three hospitals, and tried at least six medications, and the physicians still could not get our baby to stop having seizures. Violet had over 200 seizures during those 2 weeks. With every seizure, she would stop breathing and turn blue. When Violet was awake, she was unaware of who we were, and she had lost the ability to say “mama” and “dada”; the sweetest words we’d ever heard were gone. After numerous blood draws, magnetic resonance imaging (MRI) studies, computerized tomography (CT) scans, and positron emission tomography (PET) scans, we finally had a cause for Violet’s hard-to-control seizures. In December of 2009, when she was 17 months old, we got the call to come into the office to discuss Violet’s genetic test results. She was diagnosed with PCDH19 Female Epilepsy. (It was called Epilepsy in Females with Mental Retardation at the time). Our doctor could provide us with only two published articles on this rare condition, as the PCDH19 gene had only recently been discovered.
Olivia started seizing in my arms at 15 months of age, after receiving routine vaccinations less than 24 hours prior. After a haunting and frantic 911 call, Olivia was hospitalized. She remained in the hospital for 10 days while undergoing a multitude of tests and stumping all of the doctors and specialists. Olivia had upwards of 100 seizures during this period. During this time, Liv lost all of her previously gained skills. She was unable to walk, talk, feed herself, eat food, play, hear, smile, or communicate in any way. Four months later, with a low-grade fever, Olivia had a worse cluster of seizures, hundreds in a short period of time. The recovery was extremely slow. She took over a month to relearn to walk. She lost all of her language for several months. She didn’t smile or laugh. Olivia didn’t recognize us, her parents. It was the most devastating, heart-wrenching
Accepted January 6, 2014; Early View publication March 4, 2014. PCDH19 Alliance, Novato, California, U.S.A. Address correspondence to Julie Walters, PCDH19 Alliance, 6 Wisteria Ct., Novato, CA 94945, U.S.A. E-mail: [email protected] Wiley Periodicals, Inc. © 2014 International League Against Epilepsy
968
969 My Epilepsy Story—PCDH19 Alliance experience of our lives. We had again lost the child we knew. In 2009, at the age of 3 years, we received the PCDH19 diagnosis. Olivia has many delays, particularly with respect to her social and verbal development. She continues to have seizure episodes about every 3 months or so, and she is taking two anticonvulsants. Trista Pandeleos Kira had her first seizure cluster at age 8 months following an illness with high fever. Her seizures were tonic–clonic, and she rapidly turned blue. It took a week in the hospital, much of it in the pediatric intensive care unit, before they were able to bring the seizures under control. She underwent MRI, CAT scan, spinal tap, ultrasound, electrocardiography (ECG), and many blood tests, but everything was normal. Three months later we were back for another week in the hospital. She made it nearly 2 years without clusters after this. Fast forward through years she had no seizures and years where we were in and out of the hospital weekly, on four seizure drugs at once, multiple status epilepticus events, many EEG studies, several surgical evaluations with PET scans, two vagus nerve stimulator (VNS) surgeries, trialing of 22 different antiepileptic drugs (AEDs), and a second, third, and fourth opinion. We finally had genetic testing that was positive for a PCDH19 mutation in August of 2010. Kira is now 13 years old, and puberty has increased her seizure activity: about two clusters and 30–40 seizures per month. There are few indicated AEDs left to try. Kira is autistic, cognitively delayed, and has behavioral issues. Karin Wells-Kilpatrick The three of us met initially through social media, while trying to find others with the condition and any information available, and then we met in person in November of 2010 after our daughters all had appointments with the same physician. We discussed the lack of PCDH19 research, the lack of support for patients and caregivers, and the lack of an organization like those so many of the other rare epilepsies had working to find a cure and improve lives. So, we started working to address these issues. First, because PCDH19 epilepsy is so rare and isolating to families, we started a support group on Facebook that parents could easily locate so that we could connect. It is an international group with membership around the world that has allowed us to support each other, share information on treatments and resources, and informally collect information and knowledge about our daughters’ disorder. We also started reaching out to medical professionals and scientists who had knowledge of and who might be
interested in researching this condition. As a result, we were able to have PCDH19 Female Epilepsy added to an ongoing pluripotent stem cell research project. There was very little research on or understanding of the role of PCDH19 in the brain and in epileptogenesis. Furthermore, there was no U.S.-based nonprofit raising money to stimulate research into PCDH19, so we formed a nonprofit and obtained 501(c)3 status while reaching out to other similar organizations for support and guidance. Our outreach to the medical and scientific community allowed us to build a strong and committed international Scientific Advisory Board consisting of Dr. Joseph Sullivan MD., Dr. Ingrid Scheffer, Dr. Jack Parent, Dr. Tracy Dixon Salazar, and Dr. Ricardo Dolmetsch. We coordinate and partner with our Italian sister organization, Insieme per la Ricera PCDH19, and we also work very closely with the Dravet Syndrome Foundation for whose guidance we are grateful. We have ongoing fundraising activities in multiple countries and are working with the medical community to raise awareness and promote early diagnosis. On September 6–7, 2014 the Alliance will be hosting its first PCDH19 Female Epilepsy Professional and Family Symposium in San Francisco, California. The symposium will feature international speakers and will host attendees from around the globe. CME Credits will be offered.
PCDH19 Board of Directors Julie Walters, President, Co-Founder Trista Pandeleos, retired Secretary, Co-Founder Karin Wells-Kilpatrick, Vice-President, Co-Founder Leslie Henkel, Secretary Heather Fryman, CFO Alison King, Fundraising and Awareness-United Kingdom For more information please go to our website at www. pcdh19info.org or e-mail Julie Walters: julie@pcdh19info. org
Disclosure The authors declare no conflicts of interest. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
Disclaimer Editor’s Note: Epilepsia’s Epilepsy Stories is a venue for nonprofit 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 nonprofit organization recognized, contact us at [email protected].
Epilepsia, 55(7):968–969, 2014 doi: 10.1111/epi.12555
My epilepsy story—PCDH19 Alliance Julie Walters, Karin Wells-Kilpatrick, and Trista Pandeleos Epilepsia, 55(7):968–969, 2014 doi: 10.1111/epi.12555
(Left to right): Trista Pandeleos, Julie Walters, and Karin Wells-Kilpatrick of the PCDH19 Alliance with Paola Squillante from Insieme per la Ricera PCDH19, the Alliance’s Italian Sister organization.
There was very little known and very few patients had been diagnosed. Violet continues to be at risk for clusters of seizures with a fever, and to have cyanosis during her seizures. Julie Walters
Violet began having seizures at 11 months of age. We spent 2 1/2 weeks in a pediatric intensive care unit, transferred to three hospitals, and tried at least six medications, and the physicians still could not get our baby to stop having seizures. Violet had over 200 seizures during those 2 weeks. With every seizure, she would stop breathing and turn blue. When Violet was awake, she was unaware of who we were, and she had lost the ability to say “mama” and “dada”; the sweetest words we’d ever heard were gone. After numerous blood draws, magnetic resonance imaging (MRI) studies, computerized tomography (CT) scans, and positron emission tomography (PET) scans, we finally had a cause for Violet’s hard-to-control seizures. In December of 2009, when she was 17 months old, we got the call to come into the office to discuss Violet’s genetic test results. She was diagnosed with PCDH19 Female Epilepsy. (It was called Epilepsy in Females with Mental Retardation at the time). Our doctor could provide us with only two published articles on this rare condition, as the PCDH19 gene had only recently been discovered.
Olivia started seizing in my arms at 15 months of age, after receiving routine vaccinations less than 24 hours prior. After a haunting and frantic 911 call, Olivia was hospitalized. She remained in the hospital for 10 days while undergoing a multitude of tests and stumping all of the doctors and specialists. Olivia had upwards of 100 seizures during this period. During this time, Liv lost all of her previously gained skills. She was unable to walk, talk, feed herself, eat food, play, hear, smile, or communicate in any way. Four months later, with a low-grade fever, Olivia had a worse cluster of seizures, hundreds in a short period of time. The recovery was extremely slow. She took over a month to relearn to walk. She lost all of her language for several months. She didn’t smile or laugh. Olivia didn’t recognize us, her parents. It was the most devastating, heart-wrenching
Accepted January 6, 2014; Early View publication March 4, 2014. PCDH19 Alliance, Novato, California, U.S.A. Address correspondence to Julie Walters, PCDH19 Alliance, 6 Wisteria Ct., Novato, CA 94945, U.S.A. E-mail: [email protected] Wiley Periodicals, Inc. © 2014 International League Against Epilepsy
968
969 My Epilepsy Story—PCDH19 Alliance experience of our lives. We had again lost the child we knew. In 2009, at the age of 3 years, we received the PCDH19 diagnosis. Olivia has many delays, particularly with respect to her social and verbal development. She continues to have seizure episodes about every 3 months or so, and she is taking two anticonvulsants. Trista Pandeleos Kira had her first seizure cluster at age 8 months following an illness with high fever. Her seizures were tonic–clonic, and she rapidly turned blue. It took a week in the hospital, much of it in the pediatric intensive care unit, before they were able to bring the seizures under control. She underwent MRI, CAT scan, spinal tap, ultrasound, electrocardiography (ECG), and many blood tests, but everything was normal. Three months later we were back for another week in the hospital. She made it nearly 2 years without clusters after this. Fast forward through years she had no seizures and years where we were in and out of the hospital weekly, on four seizure drugs at once, multiple status epilepticus events, many EEG studies, several surgical evaluations with PET scans, two vagus nerve stimulator (VNS) surgeries, trialing of 22 different antiepileptic drugs (AEDs), and a second, third, and fourth opinion. We finally had genetic testing that was positive for a PCDH19 mutation in August of 2010. Kira is now 13 years old, and puberty has increased her seizure activity: about two clusters and 30–40 seizures per month. There are few indicated AEDs left to try. Kira is autistic, cognitively delayed, and has behavioral issues. Karin Wells-Kilpatrick The three of us met initially through social media, while trying to find others with the condition and any information available, and then we met in person in November of 2010 after our daughters all had appointments with the same physician. We discussed the lack of PCDH19 research, the lack of support for patients and caregivers, and the lack of an organization like those so many of the other rare epilepsies had working to find a cure and improve lives. So, we started working to address these issues. First, because PCDH19 epilepsy is so rare and isolating to families, we started a support group on Facebook that parents could easily locate so that we could connect. It is an international group with membership around the world that has allowed us to support each other, share information on treatments and resources, and informally collect information and knowledge about our daughters’ disorder. We also started reaching out to medical professionals and scientists who had knowledge of and who might be
interested in researching this condition. As a result, we were able to have PCDH19 Female Epilepsy added to an ongoing pluripotent stem cell research project. There was very little research on or understanding of the role of PCDH19 in the brain and in epileptogenesis. Furthermore, there was no U.S.-based nonprofit raising money to stimulate research into PCDH19, so we formed a nonprofit and obtained 501(c)3 status while reaching out to other similar organizations for support and guidance. Our outreach to the medical and scientific community allowed us to build a strong and committed international Scientific Advisory Board consisting of Dr. Joseph Sullivan MD., Dr. Ingrid Scheffer, Dr. Jack Parent, Dr. Tracy Dixon Salazar, and Dr. Ricardo Dolmetsch. We coordinate and partner with our Italian sister organization, Insieme per la Ricera PCDH19, and we also work very closely with the Dravet Syndrome Foundation for whose guidance we are grateful. We have ongoing fundraising activities in multiple countries and are working with the medical community to raise awareness and promote early diagnosis. On September 6–7, 2014 the Alliance will be hosting its first PCDH19 Female Epilepsy Professional and Family Symposium in San Francisco, California. The symposium will feature international speakers and will host attendees from around the globe. CME Credits will be offered.
PCDH19 Board of Directors Julie Walters, President, Co-Founder Trista Pandeleos, retired Secretary, Co-Founder Karin Wells-Kilpatrick, Vice-President, Co-Founder Leslie Henkel, Secretary Heather Fryman, CFO Alison King, Fundraising and Awareness-United Kingdom For more information please go to our website at www. pcdh19info.org or e-mail Julie Walters: julie@pcdh19info. org
Disclosure The authors declare no conflicts of interest. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
Disclaimer Editor’s Note: Epilepsia’s Epilepsy Stories is a venue for nonprofit 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 nonprofit organization recognized, contact us at [email protected].
Epilepsia, 55(7):968–969, 2014 doi: 10.1111/epi.12555
