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stronger and more powerful than scientific literature. It is the
only remedy that has no contraindications because the more you
give, the more you get. Doctors reading my article have not to
feel offended because of that, but they should understand why
both roles are fundamental to fight against rare diseases. Most
parents learn a lot about scientific aspects of the disease affecting
their children and become a little doctors themselves. We wish
doctors fighting by our side to learn to become a little parents
of special children too. This is the basis and the wonderful choice
the International Prader Willi Syndrome Organisation (IPWSO)
made since it was funded in 1991. We are a parent organisation
of course, but wide open to the cooperation with professionals
following PWS in the world and that’s why we have one parent
delegate and one
professional delegate in each member country belonging to our
organisation.
Prader-Willi syndrome (PWS) is the most common known genetic
cause of life-threatening obesity in children. The incidence rate of
PWS is estimated to be one in 12,000 to 15,000. It is a complex
genetic disorder related to problems along chromosome 15. The
genes lacking inpeoplewithPWShave amajor role in the regulation
of appetite andmetabolic levels, cognitive functions and behaviour
patterns. PWS causes organic damage to the hypothalamus in the
brain. This damage is irreversible. Historically, treatments with
pharmacotherapy, surgery or behaviour modification techniques
to abate the hunger have not been effective. The two hallmark
characteristics of Prader-Willy syndrome are:
• Chronic, insatiable drive to eat
• Reduced energy output due to reduced muscle mass and muscle
tone
These two factors can lead to excessive eating and life threatening
obesity. Inaddition, thegenetic condition typically causes cognitive
disabilities, incomplete sexual development and problem
behaviours.
THE INFANT is typically born with very weak muscle tone and
experiences “failure to thrive”. In some countries failure to thrive
can claim an infant’s life, since most infants cannot breast feed
and have difficulty taking food from a bottle. Tube feeding is often
required for several weeks or even months.
Respiratory problems may require monitoring and oxygen therapy.
THE TODDLER requires occupational, physical and speech
therapies. At two to four years of age a child with the syndrome
typically begins to develop an insatiable appetite. Unless some
type of significant managements interventions is provided, the
child will become extremely obese.
THE ADOLESCENT without appropriate management may develop
extreme obesity, often leading to life threatening health problems
and social ridicule. Kitchens typically need to be locked tight and
guarded with vigilance. Equally significant are the emotional
issues that arise, particularly as the child ages into adolescence
and wants to have more independence than is possible to allow.
THE ADULT typically is unable to live an independent life, largely
due to a lack of appetite control and behavioural problems.
Social life is limited due to the need for a lifetime of controlled
environments and activities.
Thanks to the support of IPWSO, many countries now
have early diagnosis, more education for parents and
professionals, growth hormone therapy (not approved yet
in many countries) and medical assistance. Many people
who have PWS are now living longer, healthier and happier
lives. Research is ongoing to develop better treatments
and discover the cause of PWS.
I would like to give you some examples of what parents
organisations can do and achieve, starting with my personal
story and how I was involved with IPWSO together with my
family. Once we found out what syndrome was affecting our
son Daniele we tried to know more about and contacted other
families involved. We joined the Italian PWS Association based
in Milano and they asked me to become their representative
at International Meetings because of my knowledge of foreign
languages and my business experience abroad. My wife Maurizia
pushedme to do it because she toldmewe had been lucky having
an early diagnosis and we had to help other people that had
not the same opportunity. When I joined the 2nd International
Prader Willi Syndrome Conference in Oslo in 1995 I realised
how other developed countries were organised. I represented
the Latin World together with a father from Spain and a mother
from Argentina and the first impression was we lived in another
planet. I was invited to be part of the new IPWSO Board where I
have been asked to follow public relations and then I became also
treasurer of the organisation. In 1998 I organised the following
International PWS Conference in Jesolo near Venice (Italy) and
was elected as IPWSO President. We had 21 member countries
then, mainly from Europe, Northern America, Australia and New
Zealand. Latin America was represented only by Argentina, Africa
was represented by South Africa and Asia by Japan only. My first
objective as President was to expand our contacts and spread
our voice around the world, starting with Latin America with the
precious help of the PWS Association in the United States that
gave me all contacts they had.
Today we are represented in 103 countries and cover almost
all Latin America. We were lucky meeting brave parents and
good doctors that joined our organisation and helped us a lot
building our network. In some countries we were lucky to get in
touch with parents who are also physicians and could help us a
[REV. MED. CLIN. CONDES - 2015; 26(4) 503-510]