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The Heritage

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 are.
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 brain.
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 end.


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 fall.
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 sick people.
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 deterioration.


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 transplant.
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.
It's 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.

O Herdeiro



Pedro Soares 2002 | Updated: 10/15/2002

E-mail: p_hmsoares@yahoo.co.uk