Depositions

This site aims to publicize a disease discovered a few years ago and very rare. It is actually a genetic defect called "Brain Creatine Deficiency Syndrome".

The sisters Daniela, born in 1979 and Fernanda, born in 1986, have this disability. After almost 40 years of uncertainty, in December 2018 they had their definitive diagnosis detected in an exam called Exoma Sequencing.

Report from the older sister, Flavia.

"We had never heard of this syndrome, so we started searching on the internet, because the result came out on a Friday, December 28, 2018, before New Year's Eve, that is, everyone in the end of the year recess. We wouldn't be able to talk to I devoured everything there was on the subject on the internet, it wasn't much, because it's a rare disease. I found studies, doctoral theses and technical texts from countries like the USA and Portugal mainly. studies on the subject, I discovered that it is a curable disease. That's right, CURABLE! That isolated information affected me a lot and certainly even more so with my parents. Now, we suffered for almost 40 years and now we discovered that the disease could Yes, it could have been, but in 1979, the year of my older sister's birth, there was no report of this disease in the medical records. Anyone who knows my sisters knows that the brain damage already suffered is irreversible. newborns, but studies indicate that they can benefit from treatment. Of course, it is not possible to dwell on the past, to think that everything could have been different, but at times it is inevitable. They had already done 3 other genetic tests throughout their lives, but none of them brought answers, and now being able to say that we know what they really have, and better, knowing that there is a treatment that can improve their living conditions, is WONDERFUL ! The intention of this site is to tell our family and friends about the next victories (which, God willing, will be many!), In addition to trying to publicize the disease, so that more people can have the diagnosis and receive the appropriate treatment. "

January 2019.o texto aqui...