Welcome FAST Latin America PART 1: FAST Argentina and FAST Colombia
About 1 in 15,000-20,000 individuals have Angelman syndrome (AS). Latin America is home to 652 million people. That means there are about 42,000 people living with AS throughout Latin America. According to FAST Latin America (LatAm) there are, in fact, only about 1,600 families with a formal AS diagnosis, a number that is grossly under represented. Why is this the case? Maxi Aubi, director of Casa Angelman in Argentina explains, “Many families in Latin America share the same socio-economic challenges of low income, poor access to quality health care, lack of education, and little to no support for individuals with Angelman syndrome. This is something we have worked hard on for the last 13 years to change, both in Argentina and throughout our region and even the world.”
Casa Angelman has indeed made great progress in promoting positive change in Argentina and beyond. The foundation consists of AS trained therapists, medical professionals and counselors. The scientific and holistic approach they follow to diagnose, educate, and connect newly diagnosed families with both other AS families and also medical professionals familiar with AS in their country, is always well received.
Melina Klurfan, a genetic counselor living in Buenos Aires connected with Casa Angelman after her best friend’s child was diagnosed with AS. She was so impressed with what the organization was doing to help families that she offered her services as a genetic counselor to meet families and explain the genetics behind Angelman syndrome with compassion and in a way they could understand. “In Casa Angelman I found an extraordinary community that deals with so many challenges with perseverance and a positive frame of mind,” says Melina, who has worked at the organization since 2015. Unfortunately, due to Covid, Casa Angelman had to close the doors of their beautiful house and transition to a completely virtual platform of service.
In 2019 Maxi and Melina attended their first FAST Summit & Gala in Chicago. “The Science Summit in particular, renewed our hopes for an effective therapeutic for Angelman syndrome and we began thinking of how we could prepare our networks to receive clinical trials and treatments. We wanted to transition into becoming FAST Argentina because we believe so fully in FAST’s mission of curing Angelman syndrome,” states Maxi. They also reached out to other Latin American AS mothers to gauge interest in starting FAST LatAm. Melina added, “There is an urgent need to join forces, efforts and resources. Experience has shown us that working alone is not as effective as working together.”
“Bringing clinical trials to Colombia and having professionals treat patients correctly and with dignity, has been one of my main goals ever since we heard amazing news from the pharmaceutical companies a couple of years ago at the FAST Science Summit,” says Stephanie Azout. Stephanie and her husband Roy, who serves on the board of directors for FAST, have attended the FAST Summit & Gala every year since their daughter Michelle, was diagnosed with AS in 2011. Stephanie continues, “When I heard the exciting news about clinical trials starting, I knew I couldn’t bring them to Colombia alone. Soon after I returned from the FAST Summit that year, an amazing AS mother, Marcela, told me she had been working on creating an AS organization in Colombia.”
Marcela Saldarriaga, whose son Jeronimo is 13 years old and has Angelman syndrome, recalls, “When Jeronimo was 9 years old I took him to Casa Angelman. There I met Melina and Maxi. They encouraged me to start a foundation in Colombia, so I did: Fundación Angelman Colombia. While the paperwork was in process, Casa Angelman introduced me to another mom in Colombia, Stephanie Azout, whose daughter had also been diagnosed with Angelman syndrome. We joined forces to work together.”
At the 2019 FAST Summit and Gala Stephanie met Maxi and Melina from Casa Angelman. “Maxie and Melina had a similar vision that aligned with our goals. We decided to “partner up” and try to make this happen together. After several discussions with FAST in the US, we decided that Fundación Angelman Colombia would become FAST Colombia just as Casa Angelman is becoming FAST Argentina, all under a regional umbrella of FAST LatAm,” says Stephanie.
“Being able to work in Latin America as FAST Argentina and FAST Colombia will help us have more visibility on a local level,” agree both FASTs. “Working as a team will help us make a big impact in Latin America,” Melina adds. Yoselin Gotschlich from Chile and Cynthia Hirschhorn from Mexico have also been instrumental in forming FAST LatAm. Yoselin stated, “We are excited to be in conversation with FAST to form FAST Chile and FAST Mexico soon.”
FAST LatAm’s mission is to join resources to work toward a better quality of life for individuals with AS in Latin America and their families, help guide newly diagnosed families, provide genetic counseling and medical and therapeutic guidance for families, as well as communicate valuable information in Spanish about clinical trials and therapeutics, and FAST-funded scientific advancements. In addition, FAST Argentina’s mission is to share the knowledge and experience Casa Angelman has gained in its 13 years of assisting Latin American families.
FAST LatAm intends to add every diagnosed patient in Latin America to the Angelman Syndrome Global Registry. They also intend to create a medical and therapeutic team that can be consulted virtually by parents and medical professionals. This team would serve as a guide in creating regional AS Centers for Excellence that would also help spread awareness at national hospitals about the syndrome and the treatment options. These clinics would help to bring clinical trials to the region. Another important component of FAST LatAm is fundraising. The money raised locally would be used to help achieve these goals.
“We hope to make FAST stronger in a global effort and to work together for all of our kids,” concluded Stephanie. FAST is committed to bringing life changing therapeutics to all individuals with Angelman syndrome, regardless of age or genotype.