translated from Spanish: The struggle of parents of a child with spinal muscular atrophy

Monica del Hoyo has spent more than 10 years seeking medical attention for her son Humberto. She had to move state, along with her husband, so that the child had access to a doctor who would at least name him that does not let him develop or move in the expected way: Spinal Muscular Atrophy (SFA). A disease so rare that in Mexico it has not even been included in the list of these conditions. 
SME is a genetic disease in which motor neurons cannot send signals from the brain to the muscles to move and without movement they atrophy, affecting even essential activities such as breathing or swallowing. Many children with SME, especially those with the most aggressive type, type 1, do not exceed two years of life without proper medical care. 
In Mexico, this condition is not included in the list of rare diseases and therefore, health institutions do not offer medicines or comprehensive treatments for patients. 

Read more | Rare diseases, a condition with which 5.5 million Mexicans live
That meant for Monica and her husband a pilgrimage from one specialist to another, without any institutional support. “Humberto was born normally. Everything went well in the pregnancy. But then we saw that he did not crawl, he sat down and I said because he has something, but the pediatrician told us no, it is that he is lazy, maybe he does not want to walk, wait so long, but the months passed and he remained the same, “says Monica.
The couple decided to take the baby to physical therapies and that’s when a first diagnosis arrived, they were told that he had hypotonia, but that with the therapy he was going to improve, which did not happen. 

“We went then with an adult neurologist, because we lived in Durango and I didn’t find a pediatric neurologist. He told me I couldn’t find anything for him. Then at last we found a pediatric neurologist, but nothing else moved him like a doll, he grabbed his arms and the little head went back, he told me that he did not know what he had and well, that already, that he had touched me like this. ” 
They then went to an orthopedist, to see if it was a hip problem, then to an endocrinologist to see if there was anything else. We went year and like this looking from one place to another, until we arrived in Monterrey with a neurologist and after doing some very expensive studies, he gave me the diagnosis: Spinal Muscular Atrophy, this has no cure, children die very young, that he told me, and I went home to cry.
This disease has an incidence of about one in every 6 thousand live newborns in the world. Fortunately for Monica and her husband, Humberto’s SME is not the most aggressive type, he has type 2, with which life expectancy is extended beyond adolescence, for now, and without counting on the availability of pharmacological treatments that promise to be a watershed.
Pilgrimage number two
According to the Mexican Federation of Rare Diseases (Femexer), people affected by these and their families find it endlessly difficult to obtain information and reach qualified professionals to obtain a diagnosis. In fact, because of insufficient scientific and medical knowledge there is a large number of patients who do not have it, these people are the ones who suffer the most.
For Monica and her family, the diagnosis meant knowing what they were facing and being able to start a battle for the life of Humberto, who today with 11 years and accommodated in his wheelchair says, among many laughs, in a Zoom talk, that his favorite superhero is Spiderman, who started the fifth grade in an inclusive school where he has many good classmates and that one of his greatest desires is to be able to continue to their friends on the block when they run through the streets. 
“Already with the diagnosis of SME we moved to Monterrey so that he had better medical care at least, my whole family stayed in Durango and I had to stop working to take care of him,” says Monica. 
Without the guidance and support of a health institution that had comprehensive treatment for her son, Monica began to look for ways to help him. “I knew there was no cure, but I wanted it to be okay, as strong as possible. I started taking him to physical therapies at the State Rehabilitation Center (CRE) of Monterrey, also to Teletón, to the DIF, because I do not have medical insurance, we have always paid everything and he needs a pediatric neurologist, traumatologist, geneticist, a world of people, so we have looked for him.” 
Rosy Chapa, president of the association in support of this condition CurAME, says that there is no official registry in Mexico that allows reliable figures on the incidence and prevalence of Spinal Muscular Atrophy, “children fathey arrive and it is not identified that it was because of this, in the association we have identified around 150 that require support, “he warns. 
Chapa points out that recognition as a rare disease is needed, inclusion in the list of diseases with catastrophic expenses, a national census of patients and inclusion within the catalog of diseases detectable by neonatal sieve for timely diagnosis and early detection, as well as training and awareness of medical personnel in SME and have various treatment options.
“We are facing a new reality, a change in clinical evolution, pharmacological treatments have a few years, about ten in the world, but what we have seen today with these is that, in the case of SME type 1 you manage to jump life expectancy from a year and a half to four years and with very good quality, with a functional improvement, I have a four-year-old patient already and he is stable, he is fine,” says Eduardo Barragán, a pediatric neurologist at the Federico Gómez Children’s Hospital of Mexico. 
The specialist explains that this hospital has been one of the first public institutions in Mexico and Latin America where a study of the treatment of children with SME could be initiated. 
“We started in July 2018, we have three years doing the initial treatment with eight children in the study and they have all jumped the life expectancy they had of the year and a half of age, Jorge is already four and not only that, we are observing that he behaves more and more like a child without disease, the gain of skills is very important.”
In Mexico, one of these drugs to treat SME has barely been approved by the Federal Commission against Health Risks (Cofepris). It is hoped that it can be granted to others and that these will be included in the National Compedio of Drugs and the condition in the list of rare diseases and with catastrophic expenses so that families do not have to pay for them. 
Monica, for example, cannot acquire that drug already approved in the country. All the money goes to them in the consultations with the specialists, the regular studies that they must do to the child, the nutrients that they supply so that their muscles are strong and the therapies. 
“Due to the pandemic, they closed the therapies in the DIF where they were already being given two or three times a week. Since then we have been paying him a particular therapist. Each session costs 500 pesos, we try to get four per week, when you can,” he explains. 
But, “many times I have to choose if I take him to the doctor or do all the studies or pay for the therapies, because it is not enough for me, in fact aquatic therapies would do him very well, but we can no longer and the medicine is very expensive, we can not afford it. What we are trying to do is to have it in the best possible conditions, so that when they can already give it to them in the IMSS or in a health institution, they take advantage of it more.”
Meanwhile, Humberto waits among legos, alphabet soups, online classes and his friends on the block to have better health care options available. 
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Original source in Spanish

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