In the heart of the Indian Ocean, on the island of Mauritius, little Ghanvir came into the world in June 2017. A healthy child, loved by a united family full of plans. However, a few months after birth, fate proved merciless: recurrent fevers, inexplicable infections, and hemorrhages quickly changed the life of the little one and his parents. The diagnosis of Wiskott-Aldrich syndrome, a rare genetic disorder, came only after a long medical pilgrimage, from Mauritius to Reunion Island, and finally to France. The cost and complexity of a marrow transplant seemed like an insurmountable mountain, until a meeting with Prof. Alessandro Aiuti of the San Raffaele-Telethon Institute in Milan changed everything. Between January and October 2019, Ghanvir and his family moved to Milan, where he received experimental gene therapy. This revolutionary treatment, developed thanks to the tireless work of researchers and the generosity of many donors, has given extraordinary results: today Ghanvir is reborn, lives a normal life, attends school and dreams of becoming President of the Italian Republic or a policeman. “We will never stop giving thanks,” say the parents, underlining the importance of donations for scientific research. “Gene therapy is the future of medicine. We invite everyone to support Telethon, because the hope of many children in the world depends on this network of solidarity.”
by Mimosa Nistri
Ghanvir’s mother and father were born and live on the island of Mauritius, in the Indian Ocean. They meet in high school, fall in love and get married. After a few years, their first daughter, Yashasvi, is born, everything is going well, their life, school, work, family. So they decide to have another child, but they don’t want to know the sex, they want a surprise. Mother Khrity’s pregnancy doesn’t always go well, in fact she has to stay still for many months, she has pain and gestational problems, her mood isn’t good. better, but at birth, everything goes well, their Ghanvir is born, a wonderful child who integrates very well into the family. It’s June 2016. After a few months, however, after the first vaccine, the child begins to feel increasingly unwell, he doesn’t sleep, he always cries, he experiences recurrent infections, skin hemorrhages, petechiae, bruising, with nosebleeds or diarrhea which no doctor can give an explanation. The father notices that Ghanvir’s spleen is larger than normal, no doctor agrees with him, but he knows that there is something wrong, but he absolutely could not imagine what would then happen.
On December 26, 2017, Ghanivr gets worse, his fever doesn’t go away, his hemoglobin is very low. His parents are desperate, they take him to the hospital on the island, where the doctors begin to investigate the possible causes, but are unable to figure it out. The parents don’t know who to turn to, but they understand that the hospital in Mauritius is not prepared for something like this and they take him to a private clinic, even there, however, by making attempts, they try to exclude pathologies, such as cancer, lupus or hepatitis, but the child continues to feel ill and requires a transfusion once a month. The doctors keep him alive, but are unable to cure him. The mother was torn between various concerns: the other daughter, the fact that Mauritius is a small island, wondered how they could move forward and what they could do for their child. They suggest that they go to Reunion Island, where they take care of Ghanvir and there a doctor is the first to think that the child’s could be Wiscott Aldrich syndrome. Ghanvir’s mother’s brother died as a child, with the same symptoms, but none he knew he might have this disease. Only after realizing that Ghanvir might be affected did his parents realize that Khrity’s brother was also affected. The parents started doing searches on Google, like all parents who are told that perhaps a child could be affected by such a rare and devastating pathology. The doctor who follows them sends the blood to France to analyze it and in September 2018 the confirmation arrives that it is Wiscott Aldrich syndrome. French doctors are offering a possible cure with a marrow transplant in Paris at a cost of 1 million euros. The parents are in a panic, on the one hand imagining a possible cure, their hopes increase, on the other the fear of the intervention and the absurd cost makes them tremble and they don’t know how to move forward.
That moment was really hard for the family, because they realized that their son had a very rare and dangerous pathology. They really don’t know how to deal with this huge burden. They move to France for about 6 months. An Italian colleague, a partner of his father (Ghanvir’s father works in the financial sector. He has a company and travels a lot between Europe and Asia) in contact with Florence and with very high-level medical specialists, tells him that in Milan Prof Alessandro Aiuti is treating children with this syndrome, with gene therapy, an innovative therapy that is giving excellent results. In mid-September, they made a call with Aiuti, the treatment was still experimental, but they immediately trusted it because they immediately had a feeling of professionalism and humanity.
When her mother found out that she was the carrier of this disease, she was very upset. However, her thoughts today go to other mothers who can have an opportunity to rejoice in life, who must not feel devastated by the fact of not being able to give a chance, “I have had this opportunity and I would like to convey this thought, I live for my children, I would like them both to have the same life.” “There were two phases in our life, one before the gene therapy, when we didn’t know what our son had and we didn’t know how to help him, we simply kept him alive, the other phase, however, was after the meeting with Professor Aiuti and gene therapy. We had to trust and believe that it would save our son’s life.” “We have understood that gene therapy is the future of medicine, we must believe in it very much and we know that they are making giant strides”. Ghanvir’s dad says.
The mother invites people to donate and when she thinks that there have been people who have donated for research, she is enormously pleased and recognizes that they do enormous good for humanity, because they can help many people all over the world, not just in Europe. “I never imagined that from Mauritius we could come to Italy to be treated here. I thank so much everyone who donated and everyone who helped save my son, I will never forget it. Today I am making an effort to raise awareness of this type of treatment, Telethon Foundation, and therefore I invite everyone to donate, to give concrete hope to many families.” Ghanvir is an adorable child, full of energy, very cheerful. The father says that his son taught him many things for life, “he taught me to be strong, to fight and above all to enjoy life, even with the pain and worries. I think my son will be a great person, he will be someone when he grows up. I am sure and I thank Professor Aiuti again for giving him this opportunity.”
From January 2019 to October 2019, Ghanvir and his family were in Milan to receive therapy. The mother was permanent here, the father and the other daughter went back and forth a bit, the girl was 5 years old at the time. The mother immediately felt welcomed, helped, the medical and non-medical staff of Telethon made her feel at home straight away, both from a practical and mental point of view. When she arrived everything was difficult, the climate, the food, the language, but everyone did their best to help her. “It’s a family here!” and he will never forget it. “We will never stop thanking and we cannot express our gratitude, we are truly grateful and we can say thank you 1000 1000 times.” Ghanvir is a very cheerful, friendly child, he talks a lot, is sociable and funny. He loves animals, the sea, the beach, football, ice cream and pizza, chips and he likes to draw. He goes to school very willingly, has many friends and finally this year he can live a very normal life, as if he had never had the disease. 5 years have passed since the gene therapy and the checks have found that everything is going well and therefore the precautions they had taken up to now are no longer necessary.
He knows that he is coming to Milan to do blood tests, to check his allergies and his state of health, but he obviously does not fully understand the extent of his pathology. When he grows up he would like to be the President of the Italian Republic or a policeman. He named Federico, the research nurse who takes care of him during follow-ups in the hospital. He also thanked him and made an appeal for donations during the filming.
An appeal to generosity
Telethon continues to represent a beacon of hope for families affected by rare genetic diseases. Every contribution, small or large, can make a difference in the lives of many children like Ghanvir.
How to donate to Telethon
You can support research with a donation via:
- Website: www.telethon.it
- Bank transfer: Payable to the Telethon Foundation.
- Solidarity number: 45510 active during campaigns.
