A Mother’s Determination – Bohring-Opitz Syndrome

Eva

This is the story of my sister Sheri and her daughter Eva:

Our 21-month old baby girl, Eva Bermejo, is a frequent visitor to Children’s Hospital Los Angeles. When we first came to the hospital in June 2011, she was six months old, had severe feeding issues, was failing to thrive, had been experiencing numerous unknown respiratory infections and she was not breathing well. We had previously been in and out of other Southern California hospitals, and we had seen several pediatricians and specialists to try to find treatment and a diagnosis for our daughter. Some pediatricians felt that Eva was just fine and others agreed further testing was needed.

Eva was born one month premature on Dec. 12, 2010. I had good prenatal care and several ultrasounds during my pregnancy, which led me to believe that I was going to have a healthy baby girl. When Eva was born, the first thing I noticed was the large heart shaped birth mark on her forehead, long fingers that were tightly clenched in a fist, beautiful blue eyes and a gorgeous full head of hair. Due to mild husky breathing at birth she was sent to the neonatal intensive care unit (NICU) for observation. That first night I spent in the hospital without my baby, I worried about other things being wrong with Eva, other than just husky breathing. The next day I tried to nurse her in the NICU, but upon attempting we noticed that Eva had a high arched palate and a weak suck. We then resorted to feeding by bottle, but Eva would vomit every time we fed her.

On Eva’s third day of life the doctors discovered that she had an intestinal obstruction, which was caused by an annular pancreas. Eva’s pancreas had grown around her duodenum, which was strangling the intestine and preventing digestion. Eva was then transported to a larger hospital with a bigger NICU and a pediatric surgical staff. While Eva recovered in the NICU, the doctors recommended further genetic testing due to the very rare annular pancreas and other physical anomalies that Eva presented. Those anomalies included clenched hands and mild dysmorphic facial features (flattened nasal bridge, small mouth, small jaw, low set ears, mild bulging eyes, and a high arched palate). Upon discharge we were told Eva could have some rare medical issue and were reassured that it was most likely not going to be significant since her chromosome karyotype test was normal.

Read the full article here: http://www.wetreatkidsbetter.org/2012/10/mothers-determination/

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