Thick Nuchal Fold
At eleven weeks gestation, MayRose was found to have a thick Nuckal Fold. In 70 to 80% of fetuses, a thick nuchal fold is an indicator of a heart defect, a chromosonal defect or some other geneological abnormality. Chorionic Villi Sampling (similar to amniocentises), demonstrated that MayRose did not have a chromosonal defect. Further ultrasounds demonstrated that she did not have a heart defect.
The Friday prior to her three month premature birth, the specialist stated that while she couldn't rule out a geneological defect not picked up by the chromosonal testing, by all appearances, MayRose was a healthy fetus. This was the first of two major false assurances. Three days later, a hospitalization demonstrated that MayRose was in distress. The specialist administered a drug that was intended to prevent a three month premature birth. I nstead, it injured MayRose's lower intestine.
After MayRose was delivered three months premature, on the second day of her existence, it was discovered that MayRose had a perforation of her lower intestine and she had to have major surgery to remove the very small perforated area. She spent most of her time in the SunRise NICU using a colostomy bag to excrete wastes. A couple of weeks prior to her discharge, her small intestine was reconnected. Unfortunately, she continues to suffer Gastroesophageal reflux disease (GERD), a condition in which food or liquid travels backwards from the stomach to the esophagus (the tube from the mouth to the stomach). This action can irritate the esophagus, causing heartburn and other symptoms.
More problematically, despite that the doctors had been alerted of the problem with her thick nuchal fold, there was no testing performed after she was born to determine whether some of her NICU problems were related to any geneological defects. A series of Complete Blood Count and Reticulocyte testing would have demonstrated that the cause of her need for numerous blood transfusions was that she was not producing Reticulocytes (Retics). Retics are young red cells just released from the bone marrow. The Retic count tells us how the bonemarrow factory is doing. Although at least one test indicated that her Retic count was low, the NICU doctors incorrectly assumed that her need for multiple blood transfusions was due to Anemia of Prematurity, and MayRose was discharged with this diagnosis.
Upon her discharge, they assured her caregivers that they were only discharging her because she was a "completely health baby." This was second of two major false assurances. Despite that MayRose's discharged papers instructed her pediatrician to perform a CBC and Retic test within one month of discharge, no testing was done. Instead, two months into MayRose's out-patient pediatric care, in absence of any blood testing, the Pediatrician prescribed a multi-vitamen with iron for the misdiagnosed "anemia of prematurity." This prescription, of course, was ineffective since MayRose, in fact, suffered from a geneological defect called Diamond Blackfan Anemia, and had not been producing any red blood cells. This condiction is controlled with either monthly blood transfusions or steroid injections to stimulate red blood cell production. During MayRose's first three month stay at home with this undiagnosed condition, her red blood count dropped to a level usually found in the deceased, she went into anemic shock, and she suffered diffuse brain damage. She was rushed to the Summerlin ICU, where they saved her life. The diffuse brain damage is irreversible, but treatable with extensive rehabilitation therapy.