A genetic cautionary tale

CF is a devastating genetic disease that affects the lungs and pancreas.  Decades ago, children with CF rarely lived past grade school.  Now people with CF often live to see their 30's and 40's.  CF is an inherited recessive disease.  Which means that a child would have to inherit one defective copy of the CFTR gene from their father and one from their mother to have the disease.  If a child is found to have two defective copies of CFTR gene then they are considered to have CF.  The parents are carriers.  Which means that while they carry one defective copy of the CFTR gene, they do not show symptoms of the disease.  It is estimated that over 10 million Americans carry a defective copy of the CFTR gene.  Most do not know it.

Here is the lesson.  This man's daughter was diagnosed as having 2 defective copies of the CFTR gene in utero.  Both he and his wife were carriers of the most common CF mutation, delta F508.  They were told that she would be a very sick child and abortion was presented to them as an option.  Thank God they did not choose abortion.  His daughter is now 12 and she has absolutely no symptoms of CF.  In fact, while she genetically has CF, he says she is healthier than the rest of her family.

I used to test for CF mutations in my lab.  This is not the only case like this that I know of.  The reality is that there are probably thousands of Americans walking around that genetically would be diagnosed as having cystic fibrosis, but show few or no symptoms at all. 

Unfortunately, there are probably thousands more who will never make it out of the womb because of prenatal genetic testing that scares parents into aborting their child.  In fact, there was a case recently of a woman who was told by her insurance company that they would not pay for the care of her CF child if she went ahead with her pregnancy and gave birth.

Preimplantation genetic diagnosis (PGD) is also used frequently to screen embryos for CF mutations.  The embryos that have two defective copies of the CFTR gene are thrown away.

The problem with abortion and PGD is that they do not cure disease.  They only get rid of the people that have the disease.  They literally throw the baby out with the bathwater.

Here is the caution: there is so little we know about genetics and yet we think we know so much.  We think just because someone has a certain genetic make-up that they are doomed to a life not worth living.  This girl is living proof that is not the case.  I think someday in the future we will look back on our genetic ignorance and regret we ever thought, "Well it is in the genes!"