No Winners !

Sometimes it seems that fate conspires to deliver shocking adversity despite our use of reasonable precautions.   A Sydney woman asked her GP to arrange a pre-marriage test for an inherited genetic disorder which had once appeared in her family line.   This was known as Fragile X Chromosone and the tests proved negative, assuring her that she was not a carrier.

She subsequently married and had sons, one born in 2008 and the other in 2011, and later they were alarmed when both failed to meet expected development guidelines.  Testing revealed that both were suffering Fragile X  abnormality, and that will be a handicap that will affect them for the rest of their lives.

Fragile X causes the sufferer to be unable to filter out background noises or visual stimulation, leading to anxiety and emotional breakdown.  They will need intensive care and the family is now suing the testing clinic for it's failure to detect the abnormality, but it is unlikely that the court process will be able to reach finality for several years, until the full extent of the disability becomes clearer with the age of the boys.   The family is asking for an interim pre-trial part payment to help with the costs of caring for the disabled sons.

There are no winners when these tragedies occur.   Somehow a test failed and obviously that was crucial in making a decision on having a family.  Now the outcome is a family saddled with ongoing care and expenses that may last a lifetime and two boys who will never reach their natural potential.  Litigation will wind through the courts for years and will probably be defended by lawyers for the clinic involved.

In the legal arena this will devolve into the usual adversarial contest.  Such is the system of " justice " in our courts.  Lawyers from both sides will delve into the law books and look for precedent - and the final outcome will be far from certain.   Hopefully, the clinic involved will have adequate public liability insurance. Without that, the financial ability to pay could come into question.

It is the human tragedies that will lurk behind the headlines.  A mother and a father whose lives have been turned upside down.  They are facing a lifetime task of caring for handicapped sons and it seems likely that neither of these children will ever attain the sort of life that could be termed " normal ".  The financial costs involved simply don't bear thinking about !

What is so disheartening is that despite this couple making a very sensible decision to have their genetics checked before committing to marriage, the outcome still delivered a tragedy.   Every year, medical science extends the parameters of knowledge and new frontiers are reached.  New fields open up and with them the ability to filter out diseases that were once thought to be part of life's lotto.

Unfortunately, this well publicised outcome will cause a sharp drop in confidence in all forms of testing procedures.  We are likely to see a demand in cases where a family history exists for patients to demand testing at two independent clinics - to eliminate the risk of a single test failure.