Rett syndrome, a rare and unexpected disorder

During the writing of this report, Ariadna, a 9-year-old girl with Rett syndrome living in Huelva, died of a blood infection.

According to the International Rett Syndrome Foundation, the most commonly reported cause of death was sudden death from any unknown cause, most suspected to be due to cardiopulmonary problems. Factors associated with an increased risk of sudden unexplained death in this syndrome include uncontrolled seizures, difficulty swallowing, and reduced mobility.

Dysphagia or higher esophageal motility may increase the risk of aspiration pneumonia. Scoliosis is also thought to be a cause of death from pneumonia because lung function is affected.

Likewise, seizure severity, immobility, and weight loss are risk factors that make patients highly susceptible to this rare disorder, which affects an estimated 1 in 10,000 newborns born to women of all racial and ethnic groups. effects of disease.

Rett syndrome not only affects the patient, but also their family and loved ones. Caring for Rhett’s patients meant turning their lives around, dedicating themselves to caring for girls and women.

People with Rett syndrome typically live to around the age of 37 or beyond, and with better nutrition and general care these odds can be expected to improve. They are highly dependent people, so they have to be taken care of by their families throughout their lives, such as eating, bathing, dressing, helping with toileting, etc.

It is estimated that 500 euros or more per month are required to meet the needs of girls and maintain their quality of life, so private associations become important financial support as they offer scholarships and hope for research and finance. Provide support to families most in need.

Francisco Santiago “Paco”, Martina’s father, before the syndrome arrived, described himself as a very no-nonsense soldier and someone who looked away when he saw a disability. “It’s the worst disease a girl can have and it robs you of all opportunities. By the time of diagnosis there is already a disability of up to 70%, so the hardest part is assuming your princess has Rett”.

Two months after discovering that Martina had the disease, Paco decided to start an association dedicated to finding a cure and supporting girls with Rett syndrome and their families to improve their quality of life. This is how my princess was born. Rhett. Since 2013, the non-profit association has funded two research projects at the Sant Joan de Déu Hospital in Barcelona, ​​the first hospital in Spain to begin research into a cure and treatment for the disease.

My Princess Leter offers scholarships for all members in different therapies, of which dolphin therapy, equine therapy or neurophysiotherapy are particularly important.

“I was honored after crying and mourning when I discovered the disease when Martina was only 18 months old and decided to accept it, but my worst enemy was time and I couldn’t until the cure came. Stop it,” Paco exclaimed.

When Sarah’s father, Jamie, developed the syndrome, his life was transformed. “My favorite hobby is traveling and cycling a few days a week, now it is almost impossible to leave Madrid, my hobby is Sara, I live for her”. Jaime strictly takes care of Sara’s daily life, working hours are reduced to 75% in order to care for minors with serious illnesses, “I will work as much as possible, because there are days when Sara needs me completely, and when I can work, I will do it Two to eight hours a day.”

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