Two Twin Girls, Same Destination: The Future

Inés and Maria share much more than physical resemblance, matching dolls, and coordinated outfits. They also share a rare genetic immunodeficiency, ADA-SCID, which can be treated with gene therapy at the San Raffaele Telethon Institute for Gene Therapy in Milan.

There are fun challenges, like pillow fights on the bed, growth challenges, like learning to ride a bike without training wheels, and motivating challenges, like aiming for good grades in school. However, some families face bigger, unexpected challenges accompanied by setbacks, fears, and difficulties. This is the story of one such family living in Rosario, Argentina. It's the family of Mavi and Emiliano. She is a brilliant art history teacher, and Emiliano, her husband, is a university official. Together, they are the parents of Maria and Inés, twin sisters.

It all began in October 2018 when the twin girls were born prematurely, as is often the case with twins: everything seemed normal. However, soon Inés started showing recurrent infections, and Emiliano and Mavi, worried, began seeking medical opinions. At first, it was thought to be related to the prematurity of the baby girl. But after tests and an urgent admission to intensive care, the analysis revealed a severe deficiency in white blood cells. The medical diagnosis was genetic immunodeficiency.

The Start of a Brave Journey

Learning that Inés faced challenges for her future even at a few days old, Mavi and Emiliano immediately consulted Argentina's top immunologist. This doctor also conducted tests on Maria, and the girls' blood samples were sent to Buenos Aires and the United States for further analysis. In April 2019, an unexpected diagnosis arrived: ADA-SCID, a rare genetic immunodeficiency affecting both girls, of which the parents knew so little.

The shock was immense, but the family chose not to despair. They sought every possible avenue, holding onto the smallest hope to preserve the sweet smiles of their girls, who, unaware, hold hands wearing matching outfits, just as twins often do. Hope came from Milan, at the SR-Tiget Institute: gene therapy. Emiliano and Mavi decided to embark on the journey that could secure a future for Inés and Maria.

First Stop? "Just Like Home"

Arriving in Italy marked the beginning of a long journey of isolation in a sterile room, chemotherapy, and fears for the upcoming surgery that the twins would undergo. Every step became a challenge, but the support from the SR-Tiget staff and the friendship with a nurse, who became a reference point for the family, made everything more bearable. Inés and Maria received the gene therapy to halt the progression of their rare genetic disease, and the family knew they would return home with a new, more aware smile and memories of a life-changing journey.

Among the many memories to cherish is their stay at the "Just Like Home" residence, part of the Telethon Foundation's project to accommodate families of children undergoing gene therapy from around the world. It was an essential point of reference and support for families like Mavi and Emiliano's, who faced a long journey away from their country to be close to their children during the treatment months that gene therapy required. Here, deep bonds were formed with other families sharing the same experience.

Then, in February 2020, the Covid-19 pandemic hit. While the world isolated, Mavi recalls that their quarantine had started much earlier, when they discovered the girls' disease, and any external contact posed a risk to their fragile condition. But among the obstacles, there was a new challenge: Inés had to undergo another open-heart surgery for a severe cardiac malformation, unrelated to ADA-SCID. The parents had built deep trust in the medical team at the San Raffaele Telethon Institute in Milan, and thanks to the collaboration with Policlinico San Donato Milanese, Inés underwent successfully this second surgery in October 2021.

In January 2022, the shadow of the Covid-19 pandemic was still looming globally, and both the parents and the twins tested positive for Covid. Despite the girls not being vaccinated, they had already undergone over 2 years of gene therapy, and their immune defenses responded better, defeating the virus in a few days.

Final Destination? The Future

Today, Maria and Inés have grown, look more alike than ever, and still wear their matching outfits. They can still play together, run around, and build a strong, unbreakable bond every day, just like all twin sisters do. Gene therapy has allowed them to create all this and will enable them to build much more in their future. Today, Mavi and Emiliano smile as they look at them, happy to have embarked on that journey "towards the future". They faced intense challenges and uncertainties but carry with them a deep sense of hope and gratitude for the research conducted by the Telethon Foundation, that has given a future to their daughters.

This article is a translation of the one originally published in italian by Fondazione Telethon.