TEXT: FRANCISCO JAVIER SANCHO MAS IMAGES: LEAF HOPPER
In this new section in our magazine, in each issue, we will be presenting our Superhéroes de Barrio, a campaign that Fundación MAPFRE has launched through its Sé Solidario program. We start with the story of Javi and María. And how much they both raced in 2012 to fulfill a dream. She wanted to be the first Spanish woman to drive a Formula 1 car. He had to race to make the most of the short life heralded by the disease with which he was born (a distortion of his genes, those that sometimes put in question everything we think we know about life, or where its start and finishing points are).
Javier, Fátima, Marina, Javier y Santi
“Just imagine. We were in Madrid, at the end of 2009,” the opening words in unison of Javier Pérez-Mínguez and Fátima Escudero, a couple of journalists who were working in communication agencies. They had been married for five years and had already had Marina, their eldest child. Javi was barely a year old then, and Santi was already on the way.
“Javi was in the day nursery. From there they sent us the first alarm signal. He was not progressing like the other children. His body was weaker. He couldn’t control his movements.” Javier relates events with his calm voice. “And we’d just completed the 12-month screening tests and everything came up normal,” Fátima adds. She is always cheerful and forthright. “We didn’t notice anything; just that he wasn’t crawling like Marina, the elder sister, had done.” But the report from the nursery was worrying.
There was no mistaking the analyses results: Javi had mitochondrial issues. The mitochondria are essential for producing energy in the body. Without that energy, the organs, any organ, can be seriously affected. In general, affected children develop tremendous muscular weakness, a kind of profound tiredness. This genetic disorder generally appears before the age of 20. But also in small children.
“They said that the child was not aware of anything; that he couldn’t see. But we noticed that he did respond to stimuli. It’s so important that physicians take the time to listen to those who spend the most time with the children,” Javier now says. “But, of course, they’re so busy. They themselves complain that they don’t have enough time.”
Mitochondrial diseases, as well as all other genetically transmitted neuromuscular disorders, form part of a group of rare diseases. Rare because they affect less than five out of every 10,000 people. Even so, in Spain alone there are some 60,000 cases. And, like Javi, about 400.
There is no cure. Nonetheless, palliative care, therapies and research give cause for hope. The vast majority of all this is supported financially by the families, with the aid of donors and private entities. And, while the public health service does commendable work, the organizations and families of these patients barely receive assistance from the public administration.
Life expectancy in the case of illnesses such as Javi’s is proportional to the time at which their symptoms appear. The later this is, the longer they will live. The sooner… Javi was diagnosed at one year old.
“What we do know is that some therapies work really well. I saw it with my own son, Javi, who was even able to do his exercises in the water. The first child in Spain with a tracheotomy who entered a swimming pool to receive therapies. And we were thus able to share with him all the things in life he could enjoy,” Javier adds.
The adventure starts
In 2011, some relatives gave them the initial push. To fight to improve the lives of Javi and many others like him. So began the adventure of the Ana Carolina Díez Mahou Foundation, in memory of a female philanthropist of the last century, who belonged to Fátima’s family.
A few years later, the Foundation has established itself as a benchmark therapeutic center for children with neuromuscular diseases, many of them mitochondrial. They cater to 200 people, mostly from Madrid and the surrounding area. And that means over 3,600 therapies a year. It means facilitating integration and engaging their families. And improving the children’s motor neuron and cognitive development. And training all those involved in the process of these pathologies. And boosting research for the treatment and cure of these diseases. And furthering the social integration of children with physical and mental disabilities caused by these pathologies.
All this with 150,000 euros per year, with 90 percent of this coming from private financing, thanks to donors and entities such as Fundación MAPFRE, through its Vidas Cruzadas cause, or the First Star Program, the legacy of María de Villota. Thanks to this aid, these children are able to participate in sessions of water, dog or music therapy.
And what exactly do we mean by racing
María de Villota. Do you remember? The first Spanish woman to drive a Formula 1 racing car. You probably remember her in her star-painted helmet and eye patch, after the accident she had in July 2012. It so happens that María was Javi’s aunt and a cousin of Javier, his father.
In September, just two months after María de Villota’s accident, that same year 2012, it was Javi who suffered one. His heart stopped and that was that. He lived more than three years. Much longer than they predicted. And that is where yet another story begins, another song for Javi and María. María had started getting involved with children like Javi. But María died in October 2013. Her legacy lives on today through the Ana Carolina Díez Mahou Foundation, improving the quality of life for families and children with diseases like that of her nephew Javi.
Learning to sit down, learning everything
The psychologist who supports the Díez Mahou Foundation attends the relatives of the children, particularly those healthy siblings who often suffer from a lack of attention from parents and other family members. It is like a variation of the prodigal son story. One of them is always demanding more care. Even when they are twins, like Jorge and his brother Fernando.
Their father Álvaro says that, during pregnancy they were warned that their child might suffer epileptic seizures. That the development of his brain was different and it would have fewer folds. There was the possibility of an abortion, but that meant losing both twins. So the two brothers were born. Today, Jorge attends the therapy sessions with his brother. Jorge has to learn everything. It is as though he had been born with a blank slate, nothing is innate, save the need to eat. And so he has to learn everything. They also said he would not even live for a month. And there he is at two and a half years old in his big, round glasses so as not to miss a thing, nor stop chasing his twin brother.
Children with rare diseases require constant attention. And life’s time scales are no longer the same. Leonor, for example, is four and suffers from propionic acidemia. This is also a genetic disorder. Observing Leonor, although she walks with difficulty and does not coordinate some movements well, she looks happy in the Díez Mahou house. This is not only due to the therapies, but also the sleepless nights of Lucía, her mother. She is 34. Leonor is her only daughter. Leonor cannot eat animal protein. That would kill her. She suffers developmental delay. She is fed via a tube. And she must be fed every two or three hours. This means that Lucía has not had a full night’s sleep since Leonor was born. And meanwhile, that Kiko Veneno song, ‘Superhéroes de Barrio’ [Neighborhood Superheroes], is in the background.
Today, the Foundation has established itself as a benchmark therapeutic center for children with neuromuscular diseases, many of them mitochondrial. They cater to 200 people, mostly from Madrid and the surrounding area.
Lucía says she has left her previous life behind. You come to a grinding halt, and start over again. “But she’s my hero,” she says about Leonor. “She’s pulled back from the brink so many times and keeps going. In two months, she’s been in hospital four times. The changes in the weather particularly affect her.” Song for learning to sit down.
Inside the therapy room, we find Elena and Mary. Elena is a full-time physiotherapist with the Foundation. Mary is a music therapist who also collaborates with the foundation Porqueviven. The language of many of these children is purely musical. And their attention improves with the rhythm of the songs. Such a simple movement as sitting down requires tremendous coordination, a full choreography of muscles, cells, bones and nerves. A whole symphony. A child with difficulties, such as those attending the Díez Mahou Foundation, can take months or years to master this. But in the three minutes that the exercise circuit with Elena lasts, to the rhythm of a song adapted by Mary, the process is accelerated and the child finally sits down.
What really matters
In October 2013, María de Villota attended a congress in Seville where she was going to give a talk. However, due to the damage caused by her accident, her heart gave up and stopped suddenly. The congress was entitled: “What really matters.”
Today, the legacy of María and Javi is firmly linked to this Ana Carolina Díez Mahou house. And much more is needed. Yes, indeed. For instance, there is a need to improve patient communication skills training. And more research is needed for most rare diseases, whose cure is still far off. There is a lack of more effective, planned, accessible responses from the administration for the affected families.
But here, in this house, what matters is to keep demonstrating that, with doses of love, music, personalized therapies and loving care, a dignified life is possible, whatever its duration may be. Who can say that a certain date indicates the end. Who can say when the songs end.