Message
that heart is not OK was one of the unexpected ones. Robin was diagnosed that
he has open ductus botalli and he has defect of heart atrium septum. These
communications use to correct without surgery during first year of life. We
believed that it would be so. But special examination showed that ductus
botalli had to be closed surgically. It was being done by cathetrisation - the
way of surgery where a catheter goes through blood artery into the heart, there
it does what should be done and is pulled out from the place where it came
to the artery - it was on the thigh in Robin's case.
Cathetrisation in June was not successful because arteries configuration was
non-traditional. He was indicated to normal surgery. He had so called
cardiovascular ring - artery whorl which pressed the throat and snorkel. It
explained Robin's problems with breathing during any effort (when crying) and
his inability to eat solid food.
After some illnesses which delayed the surgery, he was succesfully
operated in October, so we could walk to the happy future of other surgieries.
I can confirm the rumours, that children cardiocentre in children`s hospital in
Bratislava is really of a top quality and even people there are very
kind (not so typical for our hospital care).
Genetic specialists identified Robin's problems as the Stickler's Syndrome soon
after the birth. They said that the diagnosis would be clear in about his one
year. And so they did - they concluded him as having this syndrome. What does
that mean - that his problems are hereditary, the main symptome is sight loss.
This was rather unpleasant having severe loss of hearing.
We
were not sure of correctness of this diagnosis. Not all typical symptoms were
present in Robin and he had some which are not described as symptoms of the
Stickler Syndrome. Moreover, we didn't see any signs in us or our ancestors.
Our geneticist explained us that it can be - it will not express in many
generations and in one - whoops. But we were not sure. Moreover, our
geneticists don't have an access to the internet, they don't know English... we
felt that they may be wrong.
What with that? We began to look for possibility of verifying this
syndrome. It is known which exact genes are damaged, but the DNA
tests can not be done in our country. We found out that this test can be
done only in one place in Europe - in England. But it is not possible to
send blood samples there, we have to come there. As our insurance companies
would not pay this 'trip' and it would be rather expensive, we have let it for
the future. (For continuing this story, see Year Four.)