What would you be able to do for a child?: clearly the answer is 'everything', and we have found a good proof of this: the story of Miguel Ángel Orquín, an operator who at 41, he is about to graduate as a doctor to help his daughter Mara, who suffers from a rare disease called syndrome of Idict15.
Your symptoms are epilepsy, disorder, autism and serious obsessive and intellectual disorder (although life expectancy is equal to that of a normal person). Seeing that the research on this disease is not very extensive and that in Spain it is almost unknown, this Valencian decided to leave him at 36 to be able to help his little girl with all possible means.
It has taken 6 years and a lot of effort to study a career that is about to culminate while his wife has taken care of their children. It is probably difficult for many people to understand why the time has come a person can take a path like this, but seeing that it took years to get a name for what happened to his daughter and that after visiting many specialists he did not get any response, he finally saw that he would have to do it on his own.
What is idict15 syndrome?
It is a disease caused by a small extra chromosome and although its symptoms can vary from one person to another (sometimes they are not so obvious), but in general the One of the most common problems is usually the child's difficulty in communicating. In the words of Michelangelo, serious and rigorous research has never been done.
"While I was advancing in the classes I was finding answers to Mara's disease. How it originated and what was the reason why this chromosomal duplication occurred. In 2º I discovered the alterations at the metabolic level that affect him", explains Miguel Ángel. "The first two years gave me crucial information to understand everything in greater depth. And I decided to make the disclosure of my humble knowledge."
How did they realize that the girl was suffering from it?
When Mara was born everything seemed normal; However, little by little, her parents began to notice that she did not fix her gaze and that she seemed oblivious to the surrounding environment, since she did not respond to stimuli. The doctor suggested that it was cerebral palsy but after a resonance they ruled it out.
The most shocking thing is that after visiting doctors, specialists and anyone who had any idea of what was happening to their daughter, it was he himself who reading articles on the internet, found the exact name of the disease... the first big step and the beginning of the path that has led him to return to university.
Today the girl already communicates for the most basic things (such as to say she is hungry), through an album with drawings, although obviously she still does not control the aggressive moments typical of the disease. There are things that can focus your attention, but you can count on the fingers of one hand.
Father's future
Before the question of 'after finishing the race, what next?', Miguel Ángel is clear that wants to continue with a pediatric specialization to be able to advance in the investigations. He has already been invited to give lectures on the disease in several cities in the United States and there he has recognized his extensive knowledge about it.
In addition to his career and what he has been able to help his daughter, have another reason to be proud: the creation of the Idic15 Foundation, designed to give advice to people with this disease and of which 50 families are already part, although the number tends to grow as this disease is known more because many patients arrive without the correct diagnosis from a doctor.
Now all that remains is for Spanish Social Security to pay them the amount that corresponds to them for the total dependence of Mara, recognized until 2012 but that has not been updated for the payment of the monthly allowance. The fight goes on, but clearly This family has made great strides to improve the quality of life of their daughter and many other people suffering from the disease.
