The story of Amari, who came from the small Caribbean Island of Trinidad to Milan to receive gene therapy for his rare genetic disorder of the immune system.
Amari is velvet-eyed and was born in February 2019 in Trinidad: for his mother Rachael, an American from New York, and his father Abiel, a native of the Caribbean Island, his arrival was a true gift. He is only two weeks old, however, when his parents notice that something is wrong: they often find blood in his nappy and decide to take him to hospital. For the next three months, the doctors subjected him to various tests, but without being able to make any diagnosis.
However, when a bad eczema appeared on his skin, one of the doctors had an intuition, recalling some cases described by other Canadian colleagues during a conference: all those symptoms were due to a rare disease of genetic origin, the Wiskott-Aldrich syndrome (WAS), of which he had never seen any cases himself. After all, the population of Trinidad and Tobago as a whole is about 1.2 million, the same as Milan alone! The genetic test proves him right: Amari's is by far the first diagnosed case in the country of this syndrome, which, in addition to the symptoms he has already started showing, can lead to recurrent and relapsing infections, blood clotting disorders, but also to an increased risk of developing autoimmune diseases, lymphomas and leukaemia.
Naturally, the parents had never heard of WAS and started looking for information online. 'As we read, we became more and more desperate,' they recall.
The discovery of an alternative that changes everything
The only potentially decisive treatment is a haematopoietic stem cell transplant, provided, however, that a compatible donor is found. Unfortunately, despite the search, the donor cannot be found, and Rachael and Abiel feel increasingly lost. They also ask for support from the Wiskott-Aldrich Foundation, a non-profit organisation that is the result of the merger of two patient associations set up in the 2000s by some parents of children born with the same syndrome as Amari. It is thanks to them that they learn that there is an alternative to transplantation, in Italy: at the San Raffaele Hospital in Milan, a clinical trial of a gene therapy developed in the laboratories of the San Raffaele-Telethon Institute has been running since 2010.
The treatment, which has already yielded encouraging results, consists in genetically correcting stem cells from the patient's own blood, thus without any compatibility problems. Once harvested, the cells are placed in contact in the laboratory with a lentiviral vector, i.e. derived from the HIV virus: a fascinating paradox if one thinks that it is precisely the dreaded human immunodeficiency virus, suitably manipulated by scientists, that can become a powerful ally in the treatment of primitive immunodeficiency, i.e. of genetic and non-infectious origin.
After learning of this possibility, the couple and the doctors following Amari contact the head of the clinical trial and deputy director of the SR-Tiget institute, Alessandro Aiuti, directly, sending all the child's medical documentation: it is December 2019 and a year and a half must pass before the green light lights up for the little one to come to Milan. When his case is brought to the attention of the Italian doctors, in fact, the experimental clinical trial is closed, that is, all the patients envisaged in the protocol have already been treated. In the following months, the advent of the COVID-19 pandemic posed a further obstacle. Subsequently, the company sponsoring the study decided to reopen it to the treatment of new patients, and finally, at the end of 2021, the long-awaited call came for the Caribbean family.
"Although we were aware that it would be a challenging path, far away from our country and the rest of our family, we also knew that it was our only chance. We were ready for it, full of hope".
When distances don't matter
There are over twelve thousand kilometres separating the small island of Trinidad from Milan and almost seventeen hours of flying time. A distance that can seem insurmountable, especially to the eldest daughter who remained at home with her grandmother for the entire period that her parents had to stay in Italy with Amari. Also offering support, including psychological support, is the “Just like home” reception programme: a team of professionals, also supported by volunteers, accompanies the family throughout the entire care process, from the most practical and logistical aspects to the linguistic and, indeed, psychological ones.
In the first days of 2022, Amari received his stem cells corrected with gene therapy: after a strenuous but necessary period of isolation to allow his new cells to start functioning, he was able to return home. 'Today our son is a child full of life and energy,' his parents recount. He loves singing, dancing, playing with animals, swimming. He is always cheerful and happy, and we will never stop thanking Professor Aiuti, all the staff of the San Raffaele Hospital and the SR-Tiget Institute, the Telethon Foundation and all the donors who made all this possible".
