Diana Garcia Perez

Soy Gabriela, el 07/06/21la vida de nuestra familia cambio, fui diagnosticada de una enfermedad ultrarara, neurometabólica,y letal.Caracterizada por cataratas congénitas, pérdida auditiva neurosensorial, retraso grave del desarrollo, hipotonía muscular grave, así como anomalías del sistema nervioso central.No hay cura en la actualidad, y solo 6 casos descritos.En Navidad un post se hizo viral en instagram @princesagabrielita.Y un equipo de investigadores conctacto con mi familia.Nos ayudas??

Mateo was born with an extremely rare mutation in the Nek8 gene, which causes his organs to deteriorate. There are no studies, no research, no treatments and no cure… At the age of 9 months, he underwent a liver transplant and, at the age of 3, a kidney transplant. In the future, he will need heart surgery and possibly a heart transplant. There is a research team capable of helping to slow the progression of his condition, but they need funding (€62,000 per year).

Abril is a 9-year-old girl diagnosed with SPG52, with only 55 diagnoses in the world. SPG52 is an ultra-rare disease that causes very serious symptoms such as severe intellectual disability, epileptic seizures and very rapid muscle degradation in the lower body. Abril started walking when she was 3 years old and now at 9 she can hardly move anymore.