Diagnosis, an odyssey in developing countries
FAST collaborates with Casa Angelman on quest to provide diagnostic services throughout Argentina and South America
As FAST continues to grow, we are fortunate to support programs, both on a national and international level. FAST will be providing funding for Casa Angelman’s genetic diagnosis campaign across Argentina. “While genetic diagnosis is still a difficult path in the USA and Europe, it is literally an odyssey in developing countries,” states Melina Klurfan, Casa Angelman’s Health and Science Coordinator.
Casa Angelman is a not-for-profit organization in Argentina, formed by parent Maximiliana (Maxie) Aubi. Maxie’s son, Gianluca, received his diagnosis of Angelman syndrome at the age of 5. After visiting about 20 state and private schools asking for inclusion, Maxie realized that the Argentinian school system was not as inclusive as she hoped. Maxie states “One day a lady gave me a book, ‘Special Solutions for Special Children’ by Barry Kauffman, and told me my son was a blessing. I looked at her in disbelief, almost offended. Still, I read the book. It was about a family in the US that had been through something similar to me and were running a facilitating program for parents to help their kids. Without doubting, I took a plane and went to visit them and there, in the middle of the American soil, I left all my tears until they dried up. That experience was like an awakening. I realized my son would reach as far as I believed, I was a mirror to him. I learned how to lead a Home Program guided by volunteers of all ages, with no structures in their mind, no judgments, just the will to play and celebrate life.”
Casa Angelman’s approach is to teach families, professionals and educational centers how to design and implement a holistic plan for individuals with Angelman syndrome. The program consists of a four day intensive program that includes housing for families who need to travel in search of support, health treatment and therapeutic tools that they can later use in their own homes. Parents learn how to design a daily schedule, with the resources they already have, considering the conditions of their home environment. They also gain new skills to access what is best for their child. The prime focus is to allow the individual to develop their abilities, to be more independent, to better access social opportunities and to promote social inclusion within the community.
Casa Angelman is the model center of Angelman syndrome for other Latin American countries, providing genetic support, information, and training to families and professionals. They train other academic facilities so that those facilities can replicate the Casa Angelman model.
Argentina is the 8th largest country in the world, the 2nd in South America, after Brazil. Genetic diagnosis of Angelman syndrome is a complex process in Argentina and in South America. There is only one facility in Argentina that conducts MS-MLPA (methylation sensitive multiplex ligation-dependent probe amplification) genetic testing. Methylation specific PCR confirms a diagnosis while the MLPA confirms the diagnosis and further identifies the presence of a causative deletion. Casa Angelman’s grant, “Genetic Diagnosis Campaign in Argentina” aims to bridge the gap and provide diagnostic services throughout Argentina.
With the support of FAST and the National Program for Rare Diseases, Casa Angelman will contact Argentinean health facilities, review medical records and identify individuals that may have AS. Tests will be provided to facilities that have a geneticist on staff. If no geneticist is on staff, Casa Angelman and a geneticist will then travel to provinces and the geneticist will oversee the administration of the genetic testing to individuals that meet the diagnosis criteria. Glaxo Smith Kline will be providing the MS-MLPA Kits. The testing will be free to families. Melina stated that, “we hope to replicate this in other countries and give the opportunity to many families to join the big Angelman family that we are building together every day.”
Casa Angelman is run by Maximillana Aubi and Melina Klurfan.