Alberto and María Gracia, a couple residing in Carmona (Seville), had their lives changed when in a medical examination at the beginning of 2020 the pediatrician saw that something was not going well in the development of his little Alberto. She was four months old at the time and barely held her head up or turned around as other children her age did.
What they would never have liked came in the form of a diagnosis almost a year later, after a string of tests and a pandemic in between. “Your child has Spastic Paraparesis Type 50 (SPG50)“, was the terrible message.
However, it has a possible cure, the problem is that it is very expensive. It is a treatment that can only receive in Dallas (USA) still price ranging between 300,000 and 500,000 euros. An amount that their parents are looking for under the stones with all kinds of actions so that their little one develops normally.
Is about a rare genetic neurodegenerative disease that generally affects all areas of development, both cognitive and maturational. The tests carried out on the parents also revealed that both are carriers, having a positive and a negative gene, which the little one inherited and has mutated.
[Mujeres que buscan la cura de enfermedades raras: la fibrosis quística y la preeclampsia]
Hence the development of the disease. C.on the specific gene that affects Alberto there are three cases in Spain. He is now three years old and is the youngest. He cannot walk and although he does not articulate any words, he is advancing little by little on a cognitive level and lets you know what he wants. “He is very smart in that sense,” the father says with a laugh. In addition, the school has been very useful for his development and also the daily assistance with physiotherapy and speech therapist, swimming and equine therapy.
“The world comes upon you at that moment and it is all darkness, especially when they tell you that there is no treatment,” confesses the boy’s father in conversation with this newspaper. Since then Alberto, a worker at a gas station, and Gracia, in a pharmacy, have done a master’s degree on this disease that is still very unknown and have begun to see the light a bit.
In this journey they have found the columbus foundationbased in Valencia, which is dedicated to helping families with difficulty accessing treatment for children with rare diseases.
Treatment in Dallas
Through it they have met a girl from Barcelona, who suffers from this same disease, and the case of an American boy, with the same affected gene as Alberto, who has already received andhe treatment with gene therapy and that it is evolving favorably. She has even started to walk. A few months ago they met in San Sebastián with the father of the minor, who also began his battle to obtain its application.
Specifically, the treatment, approved by the US Medicines Agency, consists of intrathecal injection, into the bone marrow, of the modified affected gene. To do this, they have to lower the immune system so that your own system does not attack it.
Its duration is four months and during the next two years you will have to continue going to undergo continuous revisions. “We have hoping that this gene will do its job and make the protein that his brain doesn’t make,” says the boy’s father, who acknowledges that there may be risks, but “you hold on to a burning nail“.
Although they have the backing of the foundation, this family has gotten down to work to raise enough money. In the month of April they could receive the call from the clinic to start the long-awaited treatment that can change little Alberto’s life.
[El Servicio de Salud de EE.UU. usa la inteligencia artificial de la española Sherpa.ai para investigar enfermedades raras]
To do this, they have published a video on networks, which already has millions of views, to publicize their situation and the child’s illness, and the account number of the foundation where they are raising the funds – ES15 2085 9366 1303 3033 9645 , with the Alberto SPG50- concept. “It is a kind of piggy bank with the name of Alberto that we all have to fill as soon as possible because time is running against us.”
The father of the minor makes it clear that in this aspect they want to be totally transparent. He understands that there are many parents and associations looking for funds, but he insists that this is “Something very serious, they have opened a door to hope and the foundation will process everything“.
The wave of solidarity is being important and they hope to be able to raise the necessary amount before April. “We have received a lot of support with events and proposals and the town of Carmona has turned to it,” says the boy’s father.
Even the last Parade, during the stretch where Alberto resides, the procession did not distribute toys or sweets, but rather information about his situation. The proceeds this Saturday at the solidarity padel tournament in the town of Santiponce will also go to the cause.
Alberto Rodríguez González is a 3-year-old parishioner of mine from Carmona who suffers from a neurodegenerative disease called SPASTIC PARAPARESIS type 50.
The Columbus Foundation has a program for his healing. Let’s support little Alberto and keep HOPE firm pic.twitter.com/zC6cQ4xvlY
— José Ángel Saiz Meneses (@ArzobispoSaiz) December 19, 2022
The video isand is disseminating in the social networks of brotherhoods, the father is costalero in several, and other organizations, and achieved a lot of repercussion after the Archbishop of Seville himself, Jose Angel Saiz Menesesechoed this story on his Twitter account.
Although they would like to be for other reasons, he admits between laughs that little Alberto is already “half famous”. Everything is so that he can receive treatment and have the quality of life of any child his age. And his parents, too.
Follow the topics that interest you