ALMY foundation is a non profit organization that aims to promote a multidisciplinary scientific-medical model of collaboration of research and development of therapy to an orphan disease known as Childhood Onset Neurodegenerative Disease with Brain Atrophy - CONDBA - Caused by a rare mutation in the UBTF gene.
The foundation was established on the initiative of Adi Goldenberg-Magen
Who’s daughter Elya was diagnosed after 15 years of searching for the cause of her illness.
The foundation strives to raise awareness to the existence of rare disease that medicine can’t just yet meet its needs, and to raise funds in order to support and promote research, believing a rare disease needs a rare kind of model of collaboration In order to promote the finding of cure.
What is CONDBA?
It is a severe neurological disease affecting children aged 2-7 years old.
It is a brain disease characterised with normal development during the first two years of a child’s life. Around the age of two and a half motor and cognitive developmental regression is being identified, including difficulty in walking and speech. By the age of 15-20 the child loses motor functioning ,the ability to eat independently and becomes totally dependent.
According to Prof Orly El-Peleg Head of the Department of Genetics at Hadassah Medical Center in Jerusalem and a professor of Pediatrics at the Hebrew University’s Faculty of Medicine, this is a sad disease, children who developed for several years like other children, begin one bright day to fail pronouncing the words they could use before losing their ability to walk .From functioning developed children they gradually become children with unexplained profound intellectual disability , and as the years go by reach a nursing state.