Doctors, Families Rally for Cure for Deadly Birth Defect

Parent's Perspective News Report of Saint Louis Children's Hospital Press Conference

Thursday, January 9, 2014

CDH Genetic Research and What Will be the Results?

Recently we became aware of another CDH Genetic Study which has made headlines and we appreciate all the research so many out there are doing and we even encourage families to participate.  This is not in any way to be interpreted that we are discouraging the research at all.  We are looking into the future and what will this information mean?  These are important questions to ask and to realize answers sometimes lead to even more questions. 

There have been several genes and micro deletion of genes and syndromes which appear to be prevalent with those affected by CDH with no real consistency.  Why we have always believed as many doctors do out there that CDH is is considered a multifactorial condition, simply meaning they don’t know what causes it but they believe it is caused by many factors together.  It could be that an exposure did something to cause a gene to have a micro deletion or not be as it should.  With added genes, we know this could occur during conception itself. 

We now know women who who are trying to conceive or are pregnant to prevent Neural tube defects should take the B-vitamin folic acid.  Prenatal vitamins contain B-vitamin folic acid. Many thanks to the March of Dimes for the research provided. We also know, not always does this prevent Neural tube defects from occurring.  We also now have testing which may predict many birth defects and we know through Amniocentesis is used to diagnose chromosomal and other fetal problems.  However, it does not prevent these birth defects.  It predicts them, diagnoses them, but in no way does it treat them.  

If through all the studies of genetics and congenital diaphragmatic hernia, there is discovery of genes, genomes or micro deletion of genes, what then?  Again, we are predicting and diagnosing but not preventing them.  And if you prevent them, this means you would not have that child affected by CDH.  What of the individuals who may be marked as carriers, would they be cautioned to never have children?  We have families who have been diagnosed as carriers and who do take the chance (and have had beautiful and healthy children).

If in the future, they could manipulate the genes, could that possibly cause other issues?  These studies are all in process and we truly do appreciate the research and time and funding going into them.  As we look beyond when there are answers to the how and whys the deeper questions will be how are they treated?  As stated at the top of this blog post, answers are being found or appear to be on the horizon but once we have these, there are more questions.  

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