RAMONA MAERetrun to 22q Stories
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Our daughter, Ramona Mae, was born November 26th, 2006. Her birth was a much anticipated and joyful event. She was full term, weighed 7lbs. 5oz. and was pronounced healthy at birth. She slept quite a bit and was slow to nurse those few days at the hospital, no one seemed too concerned.
Fast forward 11 weeks. We are finally settling in at home. But Ramona just isn’t gaining very much weight. She’s borderline. She’s meeting her milestones, exclusively breastfeeding and otherwise seems content. But I just have this nagging feeling that something is off. After several trips to our usual pediatrician I decide to get a second opinion. Just to be safe, due diligence and whatnot.
The second pediatrician didn’t seem overly alarmed by Ramona’s slow gain but did comment on her bluish coloring, which I had always thought was normal for her. To be on the safe side she ordered an echocardiogram, which is an ultrasound of the heart, to rule out a blood oxygenation problem. This was done on February 10th. On February 13th I received a call from the cardiologist who read the results of the echo. I listened in shock as she told me that Ramona’s heart was “quite abnormal” and I needed to take her to the emergency room right away. Within about 10 minutes of arriving at the triage desk Ramona was in a trauma room surrounded by a dozen doctors and nurses. People were talking quickly, firing questions at me and getting Ramona hooked up to God knows what (I know what all those tubes do now, but I didn’t then .. Before my husband had even arrived she was intubated, unconscious and paralyzed.
A doctor explained that she had serious heart defects: Tetralogy of Fallot, Pulmonary Atresia and MAPCA’s. She would require open heart surgery before we’d be able to wake her up, much less take her home. She had a rough time in surgery Ion Valentine’s Day) and there was concern that she would not survive the night. But she did survive that night and the next, and every night since. She’s had two open heart surgeries and 6 cardiac catheterizations. Her heart is still unrepaired but we hope that someday it will be. Several weeks after her surgery, she was diagnosed with 22q 11 Deletion Syndrome, also sometimes called DiGeorge Syndrome or VCFS. She sees a geneticist, cardiologist, immunologist, nephrologist, audiology, ENT, and receives physical, occupational, speech and developmental therapy.
Despite all of her challenges, she is a happy and bright girl. She is developing normally, albeit a bit slowly in strength and mobility. She is a normal size for her age and even ahead in some areas, like speech! We’re not sure what the future holds for Ramona, but the advancements in research and technology, not just in pediatric cardiology, but in all disciplines that affect Ramona are making great strides each year.