When we are children the world is perfect, we wonder at everything
and have so much to learn, and we simply cannot appreciate how lucky we
Every day is full of love for new discoveries but as we grow up we
slowly lose our innocence.
However, with the guidance of a father and
the love of a mother we should become experienced enough to have children
of our own and enjoy watching them growing up.
Well... for me it was
not that easy.
When I was 7 years old I began to realise that my
father was not like other children's fathers, he was very skinny and
walked with a limp, the rare times when he could eat he had chronic
digestive problems and diarrhea, he was incontinent and he could not
distinguished between hot and cold in his hands or feet.
It was around this time that I learned that my father
was suffering from Amyloid.
Hereditary Amyloid is a very ancient Portuguese genetic
disease that was spread to the rest of the world by Portuguese sailors
during the time of the Exploration in the XV century. This began when
someone in the "Povoa de Varzim" area (North of Portugal) was born with
the mutation, which has a 50% probability of passing to his or her
children the very same gene.
This has been handed down from generation
to generation to modern times.
What is FAP? Familial Amyloidosis
Polyneuropathy is a genetic and hereditary disease, characterised by deep
changes in the autonomous nervous system, and a deposition of the mutated
protein (TTR Met 30) throughout the body with the exception of the
The reason why
this type of Amyloid never affects the Central Nervous System is because
the brain has a biological protection against the disease. This is both
good and bad because when the body degrades the person affected is fully
conscious of what is happening to his or her body right up until the
The last years of my father's live were agonizing. There
are many things that I would rather forget if I could, for example, being
in the primary school playing football with my friends and worrying about
going home to find my father unconscious or having another bad
For my father's death was inevitable; he always knew he was going
to die and was getting progressively worse so perhaps in a way death was a
blessed release for him.
He died in an extremely debilitated manner but
his attitude to me was and always will be heroic, he never gave up and
fought all the way until the end.
Anyway Fate had already decided how
my genes would turn out although I did not know yet.
Time, they say,
heals all wounds and somehow I managed to put my father's death behind me
and I grew up with hope and happiness.
Thankfully, for some years, I enjoyed myself and those
precious experiences you get when growing up, but time will always catch
up with you and when I was 25 I had to face the inevitable all over again
because this is when the first symptom's begin to show.
This disease strikes at an age that, normally, the person will be
married or may even have children.
Its incapacitating character can
create problems at work where insensitive bosses have no problem in firing
There seems to be little protection or interest from
the Portuguese Government. After 7 - 10 years the patients get so crippled
that they are wheel chair bound, skinny, incontinent, and impotent,
without sense of thermal change, depressed and some have ended up
committing suicide in an attempt to cheat the irresistible and unbearable
At the time of writing, there is still no known cure for
this disease and the only way to stop it is by undergoing a liver
The reason being is the mutated liver produces 98% of
the mutated protein and once removed there will be no more mutated TTR Met
30 and consequently no more deposits. The waiting list for a liver is
different in each country due to factors such as the availability of
organs, doctors and hospitals. A good health service can push the process
a lot quicker than a bad one.
Other key problems are the lack of information
available, poor education and the irresponsibility of some people who
still persist in having children despite knowing that they have or may
develop the mutated gene.
This is why this disease has increased
dramatically in Mediterranean countries especially in Portugal.
impossible to gauge exactly how many are like me but one thing is for sure
we are too many! The only way to ensure that you do not pass this disease
onto your children is to make a trace of the gene in a special laboratory
like the Royal Free Hospital in London, which will select non-mutated
genes and then artificially inseminate.
However, if you have moral issues with genetic
manipulation you should not have children that are genetically yours
whatsoever, adoption is always an available option.
While I'm waiting for my transplant I am in constant
battle against this disease.
When I look
at myself in the mirror sometimes see my father's sad and tired eyes,
recalling that his suffering is now in my own body.