85 / 136
505
lot in creating awareness and get their associations organised the
best way. We have parents who are also doctors or professionals
involved with PWS in China, Cuba, Egypt, Denmark, Hong Kong
and Qatar. In many countries we started with a parent, especially
mothers, who decided to take the lead and start talking about
PWS, as it happened with Chile.
In 1999 a mother from Arica contacted me by email saying she
suspected her daughter had Prader Willi syndrome and she asked
me information about. I gave her all information I had in Spanish
and translated other documents from English I thought to be
interesting. Once she got these information she contacted the
national TV and decided to go to Santiago to participate to a talk
show to explain what PWS was using all information she got from
me. Soon after many cases arose and the first cell of the Chilean
PWS Association was formed. In 2002 IPWSO organised the 2nd
PWS Latin America Conference in Chile in close cooperation
with the local association and I asked organisers to contact that
mother in Arica and invite her to join us because I wanted to know
her personally. She came with her daughter and we had a very
touching meeting together. She asked Dr. Suzanne Cassidy, who
was key speaker in Santiago, to visit her daughter and she was
told her daughter had not Prader Willi Syndrome. I can’t forget
this courageous mother who did so much for PWS in Chile and
then discovered her daughter had something else. My friend
Dr. Fanny Cortes was there and she will remember the case. I do
hope this girl was diagnosed and this mother had the opportunity
to follow her properly. This is just a first case I wanted to report
as an example because you are from Chile and must realise
what parents can do. I always say: “PARENTS CAN MOVE THE
MOUNTAINS”.
When I became IPWSO President in 1998 we had very little
money available as we could count on our subscription fees only
and had no access to pharmaceutical companies sponsorship yet.
I used my frequent travelling around the world for business and
also for my music activities and concerts to visit hospitals and
especially to meet parents I had the opportunity to get in touch
with via email. In 1999 I had a tour of concerts in Uruguay and
Argentina so I could meet parents in both countries for the first
time. In Montevideo I met 9 desperate mothers, because their
husbands abandoned them soon after the diagnosis of their
child was confirmed. This is unfortunately a common story I came
across in many countries in the world. I listened to this group of
mother for over 6 hours because they needed to discharge the
heavy load they were carrying for years in their hearts. At the
end they thanked me for my visit, not only as IPWSO President,
but also as a man whom they could trust again. Today Uruguay
has one of the most organised PWS Associations all over Latin
America, but everything started that day when scared, shy and
worried mothers became leaders and knew they were no more
alone. “PARENTS CAN MOVE THE MOUNTAINS”.
In 2002, thanks to the generosity of some Italian parents, we
organised the 1st IPWSO Delegates Meeting at BIRD (Italy) in
April 2002 with 90 participants from 44 different countries.
A milestone in IPWSO history. Here below you can read what a
mother from Guatemala wrote about this experience:
We are a family from Guatemala with 5 people. Two girls and a boy,
who is our second child, who is affected by Prader Willi Syndrome.
His name is Luis Javier Barrios Urizar and we have been to BIRD in
Italy in the year 2002. Following our participation to this Meeting we
achieved as follows:
1. Real and true information about PWS
2. Information that can give us real life expectations for our child
3. Information needed to offer a better quality life to our child
4. Information about what problems we can face if we do not follow
the guidelines and do not take care of him
5. Information about diet to obtain an acceptable weight control
level
6. Information about the psychological therapy needed for the whole
family
7. Information about behaviour disorders we might face
8. Information about the existence of different drugs to help facing
various negative aspects of the syndrome
9. Information about the existence of a large International family
where everyone can offer his own personal support and experience to
new families having a baby with PWS
10. To know and meet the best specialists in the world about PWS and
have the possibility to talk and write to them.
The delegates meeting at BIRD in Italy changed our lives. Living in a
poor undeveloped country in Latin America we were not educated and
could not afford to travel so far. In our country there are no schools or
Institutes that take care of children with this kind of disease, so once we
got all the information we needed we parents created our own support
group to educate and follow our children at home and we do our best
to facilitate the possibility for our children to live in our society, which is
not ready now to accept disabled people. Our life changed completely
thanks to the information we got from IPWSO and through the precious
sharing we had with other associations in the world. We have to say
that we feel stronger and safe to belong to such an International group
where we help each other and where we are continuously updated
about research and new drugs that can help our children.
A great service we achieved was the free methylation test at BIRD
which gave us the possibility to send blood samples of three more
children and have a negative answer, so we could investigate in other
directions.
Mayra Urízar
Luis Javier mother
[The important role of Parent Organisations to follow patients affected by Rare Diseases - Giorgio Fornasier]