The parents of the little girl ask in a letter to the Magi that further research be done on this disease that affects muscle and brain development
The Huppke-Brendel syndrome It is a very rare disease characterized by the difficulty the body has in absorbing copper properly. This seriously affects the human body, causing stunted growth in children, nervous system disorders, osteoporosis or vascular problems. only seven people suffer from this disease all over the world.
One of them is the little one Gabriellaborn in Algeciras (Cádiz), on October 16, 2021. An emotion letter to the Magi written by their parentsMari Paz and José Ramón, has been in charge of putting the spotlight on Research about this disease. This feisty family’s mission is to get scientists to find a cure for Gabrielathan a single year of life, or at least, a treatment that increase your life expectancy.
«As you know, I started the year badly, they took me over congenital cataract after a review in ophthalmology, so the doctors were alerted something good was not happening in me“So the letter that the parents made public via Instagramin account @princessagabrielita. Later, the doctors requested a genetic analysis to try and get a diagnosis of what was happening to the little girl. «My very frightened parents decided that we would go to Madrid, I was hospitalized there for a long time. They did a lot of testssome quite painful,” the text says.
The little girl suffers from what is known as copper disease
After entering various hospitals Like the Niño Jesús in Madrid, the Punta de Europa in Algeciras and the Puerta del Mar in Cadiz, the definitive diagnosis of the genetic test arrived in June. Gabriela suffered from Huppke-Brendel syndrome, an extremely rare disease, with a prevalence less than 0.000001%. This pathology can become lethal, as it occurs with a great muscle weakness yes serious development problems. “At the moment, no treatment and other children who suffered from it soon went to Heaven”, Gabriela’s parents recount in the letter.
“Since then my life, and that of my family, has taken a 180º turnwe have traveled many miles, and talked to people who know things about my disease, but not enough to save my life“, complains the family in this publication of Instagram.
A desperate cry to promote research on this disease
«I don’t ask for toys, I ask for Healththat we don’t know the great treasure we have, until we lose it, but above all, I desire with my own strength more research for more life. Let’s make it come true the miracle of christmas And don’t forget to give it visibility”, ask Mari Paz and Jose Ramón as a wish for their little girl. “What I need is for someone to investigate my illness or help me finance it, but of course only you, the Wizards of the East, can do that. so that my life can have a greater hope“, concludes this letter, which has touched the sensitivity of thousands of people through social networks.
Gabriela’s parents wear one count of Instagram in which they publish day by day the story of the overcoming of the little girl. Also, they show their support to numerous solidarity campaigns promote research on rare diseases e help other families who are going through this difficult situation.
