Thursday, February 28, 2013


 As I sat at children's Hospital with TJ this morning, no children around us, because we were the patients; i realized that just  over 8 years ago I had never heard of Anencephaly.  Then my niece, Avery, was born and passed away.  I still didn't know much about it.  To be quite honest I had no idea how to pronounce it.  

Today as I sat in a Human Genetics Office I am quite certain I knew more about it than the med student.  I have spent the last 5 years researching, asking questions, reading, anything I can do to wrap my head around this horrible defect.  For the last 5 years I have tried to find somewhere to go,  Someone to listen.  Someone to acknowledge that this was more than a fluke. 

Four years and 3 months ago I stood in an ultrasound room.  I had been told my son had Anencephaly.  I then said I wanted to speak to someone in genetics.  I wanted an appointment to see why this had happened again.  The perinatologist office got Genetics on the phone - I was told that day there was no use for us to come in.  No bloodwork to be done, no counseling, no nothing.

If I have learned anything in the past 5 years it is how to be an advocate.  For myself, for my children and for my future.  I have learned that if you want something done you have to keep trying.   I never wanted a concrete "reason" or a definitive answer.  I just wanted someone to listen.  Someone to hear our story and to tell us anything!

Today we got that chance.  We were able to spend two hours in the Human Genetics Department at Cincinnati, Childrens.  We saw a Genetic Counselor who asked questions and actually cared about the answers.  She asked about how we coped with our losses, about the support I had with Prenatal Parnters For Life, they asked about everything I had written in my emails - which made me realize they all took the time to read them.  They asked about our family history and my pregnancies.  Which still to this day I seem to know dates and details like it was yesterday.  She was kind and compassionate and made sure to ask our babies names.  Little things I did not expect on top of the "big " issues at hand. 
  When the Doctor came in he was not what I imagined.  Being an Associate Professor in Human Genetics dealing mainly in research and numbers I didn't expect him to be so personal, but he was.  He was compassionate, he was well aware of our situation and he was so insightful about the future.   He told us about what they are doing to try and figure out the hereditary basis for Neural Tube Defects, he told us they may not know it in our lifetime and that cases like ours are not the common.  He spoke of one other family in Cincinnati who had come to them for help.  We know this is not common, it was so nice to have an expert go over facts and figures that I have spent hours researching.  He told us about many of the genes they have looked at as possibilities for causing NTDs. Even speaking of a certain gene mutation that I have already been tested for because I found that research as well.  He gave us real numbers - for us.  Our chances are 80% that we would have a healthy baby- which leaves 20% that we would not.  He also told us that if we would have another baby with a Neural Tube defect they could do a study based solely on the 3 of us, TJ, the baby and I.  That would give them insight into exactly what was changing between TJ and I being healthy adults and the baby having the defect.  Things I would have never even known were possible! This would lead us to a lot of information for Anna and our nieces in the future.  Because if our risk is 20% without knowing the reason behind our babies having a neural tube defect, it raises their risk to 20% as well.  That doesn't seem horrible, but the normal chances are 1 in 1000.  So compared to that it is pretty high.  I hate to think that they would ever have to live through the heartache that we have.

So now where do we go from here.  I don't know.  We may never have an answer.  But, at least at this point I know we have a wonderful team of doctors and researchers working to find one.  And we have a little miracle sitting in her first grade desk right now that is proof that the 80% chance is a great one.

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