Music and animal therapies to improve Iván's rare disease

Iván's family learned that their son had a rare disease shortly after his birth. The little one was born premature and underweight, and he moved little and lacked the strength even to cry. After his admission to the incubator and undergoing tests, doctors informed his parents that he had Prader-Willi syndrome, a genetically-based disease that affects multiple body systems, with alterations such as lack of appetite control, decompensated body temperature, emotional dysregulation, growth hormone deficiency, and intellectual delay. This syndrome affects only 1 in 15,000 people and is a lifelong condition.

"At one month of age, we received the terrible news of his syndrome. I must say that, just as such bad news devastated the family, we managed to recover almost immediately and accept this turn that life presented us. In this way, we were able to start working on his weaknesses as soon as possible, which is very exhausting, but, fortunately, it has given us many positive results," explains José, his father.

Like Iván, three million people in Spain suffer from one of the 7,000 rare diseases that exist. Practically half of them have waited more than four years — and even more than a decade — to achieve a diagnosis, explains Juan Carrión, the president of the Spanish Federation of Rare Diseases (Feder). Born in 1999, its objective is to be the voice of people living with one of these pathologies in our country. Even more so, as Carrión points out, only 5% of these pathologies have medications, so as long as there is no cure, therapeutic intervention is the only possible treatment.

This is where the Impulso Program comes in, created in 2019 by Feder and the Mutua Madrileña Foundation to help children and young people under 21 with rare diseases and expanded since 2021 to adult patients. With this program, Iván will be able to attend zootherapy and music therapy workshops throughout the school year that the Prader-Willi Catalunya Association has been developing for years.

With these sessions, according to his father, the child learns to improve essential qualities for his life, such as motor and cognitive skills, observation and concentration, communication and language, self-esteem and relaxation, social autonomy habits and teamwork… "Besides being impatient on therapy days, he has learned to love and respect animals and enjoys music, and feels integrated into a group of friends with the same condition who love and respect him," says José.

For the Mutua Madrileña Foundation, this initiative means continuing the commitment it began with rare diseases in 2013 through its annual call for research grants in health. "While we contribute to the search for treatments by supporting medical research, with the Impulso Program we facilitate therapies that help them cope better day by day, have a better quality of life and alleviate the economic cost that these therapies entail for families," defends Lorenzo Cooklin, general director of the Mutua Madrileña Foundation.

Helping more than 4,000 patients since 2019

The Impulso Program, focused on guaranteeing therapeutic approaches and access to support products for people with rare diseases, has managed to help more than 4,000 patients in its first two editions. Physiotherapy, occupational therapy, speech therapy, stimulation or educational support are some of the disciplines it provides.

To do this, Impulso promotes networking among entities that can offer them and that, even representing different pathologies, have the same challenges among their objectives. This year, 14 entities will work together, allowing 96 patient organizations to develop therapies and benefiting more than 2,300 people with rare pathologies or who are seeking a diagnosis.

35% of family income is allocated to cover physiotherapy

This program by the Mutua Foundation and Feder manages to minimize the impact of living with a rare disease, since 35% of families allocate part of their economy to cover the physiotherapy that patients need; 34% to medical treatments, and almost 30% to orthopedic products.

Added to this is the situation derived from covid-19. In addition to paralyzing therapies for nine out of ten people, the pandemic has put many family economies at risk. That is why the third edition of Impulso arrives at a time when "the demand for this type of therapy is growing given the situation experienced by many families, where many of the entities that offer this type of resources have seen their continuity at risk," emphasizes Carrión.