We had a pretty normal pregnancy, with minimal indication of her genetic disorder. At 26 weeks there was some shadowing on her heart that made it appear as if there was a hole in her heart. We sought help from DC children’s hospital and later found that she did not have a hole but rather two superior vena cava veins to her heart. The rest of our journey was easy going, delivery went smoothly, but when Piper was getting her shots and checked in she stopped breathing a few times. 

Two hours after delivery they decided to admit her to the NICU at shady grove hospital in Silver Spring, MD. She was placed on oxygen and a feeding tube. She had also not yet opened her eyes. By the third day of not opening her eyes we decided to seek help from an ophthalmologist, they did an MRI and said that her eye gloves were normal, but the eye exam revealed that she had little to no cornea. After 7 days we transferred her to Johns Hopkins hospital to be closer to Wilmer eye institute. She spent 32 days in the NICU while we advocated to get her home as we began the journey of learning and understanding her genetic disorder. After 3 months we got the results of her genetic testing which showed she had MCOPS12. We found a specialist in Pittsburgh at Children’s Hospital there, who knew of this condition and met an ocularist that could make Piper conformers. We make the journey every 6 months to have her seen in Pittsburgh, PA.