Mitochondrial diseases, as well as the rest of the genetically transmitted neuromuscular diseases, form part of the rare diseases group. A disease is considered to be rare if it affects fewer than 5 in 10,000 people. However, there are around 60,000 cases in Spain. Moreover, there are approximately 400 cases such as those of Javi, the main protagonist of our story.
In this case, there is no known cure. However, palliative care options, therapies and research offer a degree of hope. The vast majority of this work is supported financially by the families of these children, with the backing of donors and private entities. While the public health service does commendable work in this regard, the financial support that these organizations and families receive from the administration is fairly limited.
This beginnings of this Foundation can be traced back to the end of 2009. Our superheroes are Javier Pérez-Mínguez and Fátima Escudero, a couple who are both journalists working in communications agencies. The family already had two children, Marina, the eldest, and Javi, who was then a year old. The youngest, Santi, was on his way at the time.
It all began one specific day. “Javi was at nursery school. It was there that they first alerted us to the situation. He was not making progress like the other children. His body was weaker. He couldn't control his movements” they explain.
The tests confirmed their fears: Javi had altered mitochondria. These cells are essential for producing energy in the body. Without this energy, the organs can be seriously affected. Generally speaking, children with this disease develop significant muscle weakness, a kind of profound fatigue.
Javi managed to leave the hospital. He defied the imminent death that was predicted for him. With the strong conviction that it was worth fighting against the inevitable, in 2011, Javier and Fátima created the Fundación Ana Carolina Díez Mahou to try to improve Javi's life and that of so many others like him.
Only a few years later, the Foundation has established itself as a leading therapy center for children with neuromuscular diseases, many of which are mitochondrial disorders. They cater for 200 people, the majority of whom are from Madrid and the surrounding areas. This translates into more than 3,600 therapies annually, boosting their inclusion and involving their families and seeking to improve the neuromotor and cognitive development of these children. They also promote research into the treatment and cure for these diseases.
In September 2012, Javi's heart stopped. He had lived for more than 3 years. This was far longer than anyone had predicted. Today, at this home, many children come for therapy who are also trying to gain a little more time. Among these children is Jorge and his twin brother, Fernando. Jorge has to learn absolutely everything. It is as if he was born with a completely blank mind, with nothing inherent to him other than the need to eat. It was also believed that he would not live beyond the one-month mark. Yet here he is at two and a half years old with big round glasses to ensure he is not missing out on a single thing. And then we have Leonor, who has difficulty walking and cannot coordinate some of her movements, as well as so many more children. All of them are happy at the Díez Mahou home, where they find the hope and the strength to keep fighting against the clock.