Shortly before his second birthday, Aroha Blanco's brain stopped growing and began a regression that caused him to lose mobility in his arms and legs. Since then his family lives with the hope that one day the investigation of rare diseases can improve their situation.
This nine-year-old Zamora girl is another example of the pathologies, many of them genetically based, that affect less than one in two thousand inhabitants, a low prevalence that is not so high if all these minority diseases are added, which together they affect 7 percent of the population.
Aroha was born as one more girl but her evolution was in reverse, she was diagnosed with Rett syndrome and today she is totally dependent, as her mother, Cintia Salvador, explained in an interview with Efe.
He does not speak or have sphincter control, travels in an adapted chair, studies in a special education school, goes to rehabilitation, music therapy and swimming with the Sanagua association and doctors are very aware of his back due to the increasingly pronounced scoliosis.
His mother has become accustomed to the day-to-day with a dependent person in his charge, to periodic consultations in Zamora and to control to avoid having epileptic seizures, which is another of the symptoms of the disease.
To this we must add the trips to Salamanca for the follow-up of his illness and the annual visit to Barcelona, where the reference hospital in Spain for Rett syndrome is located.
At the moment, this genetic-based neurological development disorder has no cure, but research with mice has allowed the disease symptoms to reverse, so Aroha's mother does not lose hope that one day her daughter will be able to defeat her .
In this regard, he has drawn attention to the importance of the investigation of infrequent diseases, which are faced with the brake that supposes that the large pharmaceutical companies are not interested in investigating in this field due to the small number of patients.
If it is added that the support of the Administration is "scarce", the only lifeguard for families such as those of Aroha is the altruistic work of associations such as, where appropriate, the Spanish Rett Syndrome, Sanagua Aspace Zamora or Running with the Heart for Hugo.
This last association, which recalls the name of a child with a rare disease that has already died, organizes activities throughout the year to raise funds that help families and favor the investigation of these pathologies.
Their next activities will take place on the occasion of the commemoration, on February 29, of World Rare Disease Day, when a solidarity stew will be tasted and on the previous day an informative talk by researchers from the Alberto Sols Biomedical Research Institute.
The events will multiply in the next few days in different parts of Spain in order to make visible to society the diseases considered minority and demand resources for their investigation, since lives like Aroha's depend on it.