Santiago has a rare disease, which makes it difficult for you to live. He has evolved but needs more support to continue his fight. Needs intensive therapies. Help Santiago!
Santiago has a very rare genetic disease called MECP2 Duplication Syndrome, there are only 150 cases diagnosed around the world and affects mostly boys, and a few months ago it was diagnosed with autism spectrum level 3. There is not much information in Portugal about this disease.
MECP2 is an essential body protein found on the x chromosome in the xq28 region.
However as Santiago was born with a little more chromosome than normal, it produces twice as much this protein, which is not good, because it causes delays in motor and cognitive development, among other complications.
In the US, a study is being done by the 401 project, are studying a drug to inhibit the effect of excess protein, and has managed to reverse the symptoms in laboratory mice.
The average life expectancy is only 25 years but many of the boys do not even reach adolescence.
The Santiago also has several problems, has developmental delay both motor and cognitive, does not walk, does not speak, has respiratory problems, because it has very frequent respiratory infections, has sleep apnea and so have to sleep ventilated by a b- pap.
The pregnancy was quiet, watched and all the examinations of disease screening were done, never accusing anything abnormal.
Only one month after being born in a routine appointment, they found Santiago very uncomfortable and sent him a letter to be followed at Santa Maria Hospital. Then came the complications, he was always sick, a simple constipation quickly turned into pneumonia or worse. The Santiago began to go through long hospitalizations that along with the fact that he did not have muscular strength began to leave concerned the doctors in the hospital. They were long months in several consultations of many specialties without great results until at the 7 months they were sent to a consultation of genetics and after many examinations came the result.
The evolution of Santiago has been fantastic, already walks with the help of the wanderer.
We ask for your help to help Santiago, because it needs many therapies, and they are all very expensive.
