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The important role of Parent
Organisations to follow
patients affected by Rare Diseases
"I am not handicapped, i am special"
GOD BLESS OUR SPECIAL CHILDREN!
Our son Daniele was born in 1976 at the hospital in Feltre, a
small town near Belluno in Northern Italy where we lived. We
immediately realized there was something wrong with him
and had to rush him to the hospital in Belluno because he had
breathing problems. Pediatricians told us he could not survive
and suggested he was baptized there and told us he probably
had something bad to his brain. Although he was just two
months old, they made a dangerous lumbar puncture with
no evidence to any problem to the brain. We were desperate
and decided to go back to the hospital where he was born and
the head pediatrician there just holding him in his hands told
us: “Your son has Prader Willi Syndrome” (PINS). In 1976 few
Italian doctors knew this syndrome and could make a clinical
diagnosis as he made. We were really lucky, because this doctor
had a severely handicapped daughter and took her to the
Children Hospital in Zurich (Switzerland) to be examined by
Doctor Andreas Prader. While he was there, Dr. Prader informed
him about the syndrome he discovered.
Why do I start my article with this personal story? The reason
is connected to the purpose of this article headed to doctors
and professionals following children affected by rare diseases,
like PWS. When the doctor made the clinical diagnosis to my
son Daniele he told me: ”As you know English well, you can
have a look at the description of the syndrome I have here for
you”. It was just a page but what was written there was scaring
and terrible, saying we had to live a hell of a life and scientific
literature reported 14 years as a maximum life expectation. My
wife Maurizia and I looked at Daniele’s eyes and said it was not
possible and decided to face the situation our way as parents…
Daniele is 39 years old today, he is working happily inside
sheltered workshops after he worked 10 years in a regular factory.
He lives with us at home and he is part of our community in the
village where we live.
Doctors and scientists should remember that whatever they
publish on a rare disease, which can be accessible to parents
especially on the net, can be read by parents of children
affected by that particular rare disease. Not all of them can
react in a positive way as we did. We learned that LOVE can be
Giorgio Fornasier (1)
(1) IPWSO Director of Program Development
Email:
One day Daniele told me: “Dad, I‘m not handicapped, ‘cause I’m not in a wheel chair, I see, I talk,
I walk, I EAT, I have friends, I enjoy life and love this world….
It is true, I’m different, because I have something more you have not…
I have Prader-Willi Syndrome, so …. I AM SPECIAL!”
Daniele de padrino.
[REV. MED. CLIN. CONDES - 2015; 26(4) 503-510]