Noelle's Song

I am starting this blog hoping that in getting my emotions out I will find a way to help others, to make Noelle proud and to raise awareness about hydrops, about neonatal death and about this tremendous grief. 

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Noelle Philomena was born and died 12/13/16. She suffered from Hydrops Fetalis which in and of itself is not a diagnosis but rather a condition caused by multiple diagnoses. After amniocentesis we still had no answer as to what caused her to develop this condition. After she died, we decided to do an autopsy to see if we could find the cause and know our risk of reoccurrence in subsequent pregnancies. Initial results were inconclusive, but after adding on one last test, we had an answer four months after she died.

 

She died because of a recessive gene she inherited from both Alex and I. Defined as a PIEZO-1 mutation, her lymphatic system was compromised, hence the fluid build up. Noelle was one of the first cases in which this gene was identified as the cause. 

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We hope to see a lot of research and treatment for this condition in the future and we are happy that there will now be an answer for many Hydrops families who were told time and time again that the results are "inconclusive". 

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The first doctor who identified the condition at 20 weeks told us to terminate the pregnancy. That was the first option he gave us. I wanted to punch him in the face to be quite honest. He said this usually ends in heartbreak but we wanted to let our girl fight. Who are we to decide when her life should end???

 

We went through multiple surgeries but at 30 weeks gestation our baby girl had enough and was showing signs of distress. They tried to give her a chance on the outside seeing as she was suffering in the womb but after 32 minutes of life here on earth God took her up.

 

My hope for this blog is to allow myself to grieve and to maybe help others not feel so alone. We are not alone.