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Hello, I'm Patrizia Gentile, XLPDR International Association President
XLPDR means X-linked Pigmentary Reticulate Disorder
with systematic manifestation
in short: X L P D R
Only nine known cases all over the world
the only one italian case is my son Alex, 4yo
this disease appears since first days after birth
these children have a particular face,
with hair that are present at birth, brushed backwards
with backwards eyebrow
with a face like an old man
and dry skin
since early birth they present the disease features
vomit, diarrhoea, dehydration
poor sweathing, iperthermia, gastrointestinal problems
and frequent pneumonia
and electrolitic unbalance
Those symptoms, if not detected at birth, can lead to death
and my son went near to die
we still don't know the gene that is responsible for this disease
and the only one doctor studying this disease is dr,Zinn in USA
Our association aims to spread information among neonatologists and pediatricians
about this disease that, if not dected at birth, can lead to death
often pediatricians sin of pride
they think to know every disease and to know more than parents
I think that pediatricians should be more humble
they should be more ready to listen to families
so many situations would not be like my son that has been hospitalized 30 times
True, we're only 9 cases all over the worl
I know that rhere is not enough money
I know that science aims to other diseases to study
but I think that every human being deserves cares
every human being should be able to say "Someone helped me"
Our association wants to do it,
we would give those children the possibility that someone cares them
Thank you