Genetics results

I absolutely hate seeing Rebekah cry. It stirs something within me that I have never felt before. It’s this aching, uneasy feeling when I see tears streak her face. As her husband, it is my honor to love and cherish her, to protect and nourish her. So when I returned from a walk and saw her sitting quietly in the living room, tears running down her face, I forced the sick feeling down and asked her what was wrong.

“She has DiGeorge…” Rebekah said quietly.

DiGeorge syndrome is the result of a microdeletion within the human genome of chromosome 22. It has a number of effects, albeit variable phenotypically, on an individual. They can have: underdeveloped thymus (impacting their immune system), heart defects, clubbed feet, developmental delays, and in rare cases, BRA.

The tears on her face were for a loss of hope. We were praying baby would be genetically normal so she could continue on in the Mayo trial and we could give her a shot at life. But any genetic abnormalities rules us out of the trial.

The next day we went to UWHealth for a follow up ultrasound. Luckily baby still has some fluid to keep her comfortable… For now. The attending told us no one would take us for amnioinfusions due to this genetic abnormality. Whatever hope we had vanished. The UWHealth staff were unaware of anyone else doing amnioinfusions outside of a trial other than a doctor in Georgia; she would be unlikely to take us.

Hope vanished. The thought that baby had an option out there, but it was denied to her, and she would die as a result, was indescribably painful. We had to find something, someone, who would give her a shot. DiGeorge individuals live fairly normal lives, and we needed to fight for that.

We prayed. We had lost all hope, and I think we both felt guilty about that. We need to have ‘faith the size of a mustard seed’, but we lack even that. I had a realization in that moment, however. I had no hope in the situation, but I have constant hope and trust in God.