The History of Alternating Hemiplegia of Childhood Foundation (AHCF)
From two families in Boston, the foundation has grown to discover hundreds more over the course of 30 years. Ours is a story of advocacy, passion for answers, and courage to pursue them.
June 1993 – The Early Days
Two families met at Boston’s Children’s Hospital after both their children had been diagnosed with Alternating Hemiplegia of Childhood (AHC). Kathy and Steve Hurley (Massachusetts) and Dennis and Elsie Kiernan (Virginia) thought they were the only parents with children who had AHC. From an idea at the kitchen table, they brought to fruition IFAHC, the International Foundation for Alternating Hemiplegia of Childhood. It was registered with the Commonwealth of Massachusetts.
- Dr. Mohammad Mikati, a neurologist to both families, was interested in AHC. So he placed an ad in a medical journal looking for participants in a research study for AHC. Because of this ad, Lynn and Mark Egan (California) and Laurie and Ray Baker (Wisconsin) connected. Networking through their neurologists and Dr. Mikati, more families started to find each other.
- Over the next two years, we continued to build our database. We knew of 36 families!
- Dr. Mikati departed for Lebanon, and the search began for another researcher.
- Dr. Harry Chugani from Detroit was interested in AHC and PET studies and was awarded the first grant of $19,000 to evaluate treatment approaches and the underlying cause of AHC. Patients were recruited to participate in the first AHC study of MRS and serotonin PET scans.
- IFAHC Board and Medical Advisory Board formation
- In April, 9 Families traveled to Detroit for the first meeting of core participants. 8 Board of Directors were elected, and 10 International Medical Advisory Board (MAB) members were confirmed.
- New MAB members included Dr. Fred Andermann (Montreal), Dr. Kenneth Silver (Montreal), Dr. Jean Aicardi (France), Dr. Federico Vigevano (Italy), and Dr. Norio Sakuragawa (Japan).
- Richard George created Alternating Hemiplegia Foundation (AHF). The focus of the AHF was fundraising.
- AHF and the IFAHC jointly awarded Dr. Chugani a second grant of $30,000.
- IFAHC created and distributed the first Newsletter.
- Since 1988, Janssen Pharmaceuticals had been conducting a study on the efficacy of their drug Sibelium (Flunarizine) for AHC. But by the end of 1995, they could not prove Flunarizine was effective in treating AHC, nor was it cost-effective, and they discontinued the study.
1997 – First Symposium
Symposium in Woodinville, WA Parents of a newly diagnosed little girl, Laura and Kim Cooper (Washington), organized a workshop/symposium held in Woodinville, Washington, in May 1997.
- Symposium participants included the pioneers in the field – Dr. Jean Aicardi, Dr. Fred Andermann, Dr. Eva Andermann, Dr. Harry Chugani, Dr. Diane Chugani, Dr. DaSilva, Dr. James Garbern, Dr. Giuseppe Gobbi, Dr. Renzo Guerrini Dr. Michael Johnston, Dr. Louis Ptacek, Dr. Gregory Moore, Dr. Jong Rho, Dr. Steven Roach, Dr. Harvey Sarnat, Dr. Philip Schwartzkroin, Dr. Ken Silver and Dr. Mary Zupanc.
- The goals of the symposium were to discuss the underlying cause of AHC
- How neurologists around the world were treating AHC,
- What drugs were being administered,
- National and international collaboration in studies and treatment
- How the foundations might facilitate research.
- A significant outcome of that meeting was the establishment of the first Biobank to collect samples from AHC patients and their families under the direction of Dr. Louis Ptacek, a neurologist, and geneticist from the University of Utah.
- The IFAHC continued to build a database of families, launched its first website, focused on awareness through newsletters, provided family support, and conducted fundraising.
- Dr. Kathryn Swoboda, Collected the very first familial AHC case from Boston, which she sent to Utah to launch the AHC database in 1998 in Salt Lake City. Dr. Swoboda wrote an NIH grant and received a K award to work on the AHC Database project. She also received a grant from the Dystonia Medical Research Foundation to get additional funding to begin collecting clinical records and blood samples from patients and their parents making cell lines
1999 – 2000
. First ‘Midwest Family Gathering’
- June 1999 – organized by the Prunty and Ryan families in Rockford, Illinois. Fourteen families attended, including grandparents from WI, MN, OH, MI, and IL. Dr. Silver gave a presentation on AHC and answered questions. Grant proposals were discussed, and a successful DNA collection was held, but the highlight was the children meeting each other for the first time, ages ranging from toddler to teenager!
- There were now 206 families that we knew of worldwide!!
- In June 2000, the second ‘Midwest Family Gathering’ was held.
- The AHF funded two research grants for $77,485.00 to Dr. Louis Ptacek, “Toward a Molecular Understanding of AHC” and “The Effects of Flunarizine of Neocortical GABAergic and Glutamatergic Function, to ”Drs. Johannes van Brederode and Jong Rho.
- Lynn Egan became President of IFAHC in 2000.
2001 – The Merge of IFAHC and AHF
- The IFAHC and AHF had worked together for eight years. In March 2001. It was decided to become one organization and combine resources. As a result, the Alternating Hemiplegia of Childhood Foundation (AHCF) was established.
- Dr. Ptacek left in 2001, and the AHC Gene Project transitioned to a completely independent neurogenetics laboratory at the University of Utah.
2003 – 2010
- In 2003, families traveled to Salt Lake City for another family meeting. Even in these early years, it was evident that Family meetings played an essential role in the lives of the AHC families.
- International Collaboration A measure of the growing interest of AHC internationally was the collaboration between scientists in Los Angeles, Boston, Italy, and France.
- In 2003, AHCF awarded Dr. Swoboda $66,890.00 each year for the next three years to identify the genetic cause of Alternating Hemiplegia of Childhood
- 2004 – Sharon Ciccodicola, RN, became the AHCF Medical Liaison in November.
- Boston Family Meeting – The 2005 Family Meeting saw 22 new families in attendance and representation from Asia, Europe, Africa, and North America. Data collection continued.
- Josh Magleby, M.S. was actively testing affected children and their siblings throughout the conference and was awarded $3,100.00 to conduct a Cognitive and Behavior study in 2006.
- 2006 Symposium in Montreal, Canada In conjunction with the 10th International Child Neurology Congress, the International Symposium on Alternating Hemiplegia was held in Montreal in June 2006. Organized by Drs. Fredrick Andermann, Kenneth Silver, Kathryn Swoboda, Eva Andermann, parent Lynn Egan and sponsored by the AHCF. There were over 120 delegates worldwide in attendance.
- In September 2006, the Platt family held the first AHC walk in Downers Grove, Illinois, with the Andrasco family joining them in 2007.
- In 2007, the AHCF awarded Dr. Swoboda a three-year grant (July 1, 2007 – June 30, 2010) for $546,000.00.
- Identify the genetic mechanisms involved in disease pathogenesis,
- Development of a fellowship program designed to attract new and talented young physicians to AHC research.
- Pilot Clinical Drug Trial – Open Label Phase I/II Pilot Clinical Trial for the Treatment of Alternating Hemiplegia of Childhood with Gamma hydroxybutyrate, with Study Coordinator/Research Associate Aga Lewelt, who conducted the sodium oxybate clinical trial over the next three years.
- In July 2008, we held our next Family Meeting in Chicago, Illinois, with a great turnout, many new families, and a Q & A with the Physicians. Data collection continued.
2010 Board changes and Grant Contests
- In February 2010, Sharon Ciccodicola was hired as the AHCF coordinator and the foundation’s medical liaison.
- Richard George stepped down after 15 years as president of the AHF/AHCF, and Jeff Wuchich was appointed president in August.
- We won $20,000 from Chase Community Giving in July.
- Pepsi-Refresh Contest The project was titled “Find a Path to the Cure for AHC.” The response and support were incredible! With the help of an astonishing amount of families, friends, our medical team, and so many more, we won $250,000! Dr. Swoboda was the grant recipient.
- AHCF took its first venture into social media, developed Foundation Facebook and Twitter pages, and created a Blog – AHC 365 Parent John Gates revised our website, making it social media friendly!
- In 2011, the Clinical Trials of the Sodium Oxybate Study were in the final stages.
- Our Logo was changed to represent the growing number of patients who were no longer children but young adults, and it was trademarked.
- In July 2011, a Family Meeting was held in Raleigh, N.C., with 34 families in attendance. Data collection continued, and the AHCF sponsored our first luncheon.
- The Foundation grew to 13 board members, the Medical Advisory Board expanded, and collaborations were established with AHC associations from across the globe. We knew of approximately 750 patients worldwide.
- Gene Mutation Discovered In January 2012, the ATP1A3, the first AHC gene mutation was discovered. This was a joint effort by the University of Utah and Duke University.
- A very ambitious family meeting was held in San Francisco at the end of June. Families attended from 7 different countries.
- AHCF established a Scientific Advisory Board whose sole objective is to review research proposals.
- In December 2012, the AHCF provided Dr. Sandra Reyna with a grant to represent us at the First AHC Symposium in Brussels, Belgium.
- The AHCF became part of an International AHC Alliance (AHCIA), with Lynn Egan as moderator and with 23 countries to facilitate collaboration between organizations and researchers.
- In January 2013, The First International AHC Day was established to commemorate the finding of the ATP1A3 gene.
- Lynn Egan became the AHCF president. The AHCF also participated as organizers and supporters of the 2nd Symposium on ATP1A3 in disease in Rome.
- We were the lucky recipient of a $169,000 donation by an anonymous donor!!
- Dr. Hendrik Rosewich and Dr. Masayuki Sasaki joined our Medical Advisory Board, with Dr. Matt Sweney becoming the Chair and Dr. Ken Silver as the Vice Chair.
- The AHCF Board grew to 15 seats.
- A Family meeting was held in Minneapolis, MN, in June 2014, with over 35 families attending from the U.S., Australia, Japan, Africa, Canada, France, and Iceland.
- We hosted a full-day ATP1A3 Workshop spearheaded by Dr. Kathryn Swoboda and Dr. Alison Brashear. Experts in AHC, epilepsy, dystonia, behavior, physical therapy and AHC family members came together to brainstorm and reach a consensus on some core issues.
- In August, AHCF supported the third ATP1A3 symposium in Lunteren, Netherlands.
2015 – Present
- Since 2015, we have continued to grow and support our mission to END AHC!
- There are now over 475 AHC Families in the U.S.
- Since 1997, we’ve had 14 Family Meetings and supported 14 International Symposiums.
- We have funded over 3.5 million dollars for research because of the fundraising efforts of the AHC families.
- We are leaders in providing information and education to the public and medical community alike, as well as providing family support to new and existing families of those with loved ones with AHC.
If you are interested in more details about our early history, research projects, family biographies, or fundraising accomplishments, please enjoy our old newsletters.
Thank you to the many Parents, Doctors, Researchers, Donors, and other Advocates who have helped the foundation progress toward its mission!