A ground-breaking online community has been launched to allow people with the rare disease Progeria to communicate regardless of their location or language.
Progeria Connect, a new partnership between UK specialty pharmacy Sciensus and The Progeria Research Foundation (PRF) is a private, dedicated online community for patients, families and PRF consultants to support each other from anywhere in the world and offers a chance to build lifelong ties throughout their journey with Progeria.
Studies have shown positive tangible health benefits from using online support communities for informational support, daily living support, and emotional support. Online communities such as Progeria Connect are also key in exchange of information on the latest research findings, taking us a step closer to discovery of new treatments and the cure for Progeria and its aging-related disorders, including heart disease.
Progeria, a rare, fatal genetic condition characterized by an appearance of accelerated aging in children, affects just hundreds of people across the globe, and due to language and location barriers, bonding with others in a similar situation has previously been difficult.
While the UK has only a handful of people with progeria, eight people from the UK are already interacting with other patients, family members and PRF consultants in the digital community which offers immediate translation on chats and video calls in several languages at the same time.
PRF ambassador Sammy Basso says the site is a breakthrough for those affected by Progeria.
“It is a brilliant way for families to support each other through a very different life. Often we have the same challenges with a different focus. Sometimes people ask quick simple questions like ‘my son or daughter is going to school – how do we approach this?’”
“We also share helpful medical information, and the chat is translated, which is amazing because there are fewer than 150 known people with progeria worldwide, and now we can connect regardless of geography or language.“
Sammy, from Italy, was diagnosed following his birth in 1995 and given a maximum of 13 years to live. At 28, he benefits immensely from treatment and is now a scientist himself researching progeria and other rare diseases.
Although they are born looking healthy, children with Progeria begin to display many characteristics of accelerated aging within the first two years of life. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic backgrounds. Without treatment, children with Progeria die of atherosclerosis (heart disease) at an average age of 14.5 years.
It is an honor for us to be able to support the amazing and inspirational Progeria community, alongside with our partners at The Progeria Research Foundation. We have already heard about the benefits of patients, families and consultants coming together to support each other and are excited about the future of this community asset and the benefits that could be shared with other rare patients in the future."
Richard Blyth, Chief Product Officer, Sciensus
“Progeria Connect is a multifaceted program with one overarching goal: unite and inform the global community of families impacted by Progeria,” said Audrey Gordon, President and Executive Director of The Progeria Research Foundation.
“By connecting these families around the world, we can better streamline the sharing of information and resources among those impacted by Progeria. To that end, the families can communicate amongst themselves in a secure, private environment, and PRF provides key research-related information to keep members informed about potential research opportunities for their children, including clinical trial updates. We are thrilled at the opportunity to see the families in our small but vast global community thrive, and are immensely grateful to Sciensus for their time and commitment toward helping us achieve our mission.”
When Sammy Basso was born in 1995, his parents were told he had a life-limiting disease and would not live past 13.
The doctor explained to the confused parents that their baby had Progeria, which has no cure and apologized for what their lives were about to become.
Yet today, Sammy’s parents could not be prouder of their son who is a scientist, researching rare diseases, including his own, and is an ambassador for the PRF. The PRF gives parents of newly diagnosed babies support – and the initial hope that his own parents were denied.
“Thinking back to that time, it is like a different world, a different era,” said Sammy. “I can't remember my diagnosis but my parents can remember it so well.”
“Dr. Sid Gabriel told them there was no research and nothing they could do. It was like a sentence. Now it is different because although it is one of the rarest and most difficult diseases in the world, now we have research and treatment.”
In 2018, Sammy, who lives in Italy, graduated from Padua University with a degree in Natural Sciences. Two years later Sammy became a member of the Venetian’s regional and national task force for COVID-19 information disclosure and in 2021, he graduated with a second degree in Molecular Biology with a thesis on progeria treatment.
Sammy continues to study the disease both molecularly and medically and is well known in his country and around the world for his commitment to scientific research into Progeria and rare disease in general.
He is now supporting the launch of Progeria Connect, a new network to bring together people with progeria, along with their families, for peer support, advocacy and important research; including clinical trial updates from the PRF. It enables safe and secure communication, regardless of language or location.
Sammy said: “It is a brilliant way for families to support each other or sometimes to ask even simple questions such as ‘my son or daughter is going to school – how do we approach this?’ It is very collaborative.”
“We also share helpful medical information, and the chat is translated which is amazing because there are fewer than 150 known people worldwide with Progeria.”
Progeria Connect is an online community that was launched just under a year ago by British specialty pharmacy Sciensus and the Progeria Research Foundation.
Sammy said: “This site will allow us to share details on medical issues and mental health issues, which is vital for the small number of people affected.”
“Sometimes we just chat about normal everyday life things or where we are going to travel. We can communicate in our own language which is so important, and on video calls, there is an option for auto-translations.”
“We are doing this for Progeria, but imagine how helpful this could be for other major diseases. I hope this is replicated for more people in other small communities located around the world.”
Sammy says he feels lucky in life. While things can be difficult, there are now research centers, which you can go to so everything can be managed. Progeria is not a sentence. There can be problems, but there is a supportive community working to solve them. There is already a drug for some people. There is not a cure, but there is real help.
“It is really different. Now there are some doctors who are experts in Progeria so you can have access to greater support.“
Despite a difficult start in life, Sammy’s parents never stopped believing in science and, in Sammy’s words, “They always taught me to live my life fully 100%. And I am!”
“My dream is for more scientific research into rare diseases because it makes a difference to people like me and will totally change the lives of people younger than me.”