Living with an Unknown Genetic Disorder, 46 XX Add X Qter, Ishael Remains Strong

January 21, 2013

My daughter, born February 17th, 2012, was diagnosed by The National Institutes of Health in the Philippines with an unknown genetic disorder, “46 XX Add X Qter.”

She was only two kilograms at birth, with an extra soft finger on her left hand, an anterior fontanel that extends to the middle of her forehead like a large “V,” lung complications and Tetralogy of Fallot, but her NBS and cranial ultrasound are normal.

Although she is prone to pneumonia, she has never had a cold or the flu since birth. The highest body temperature she has had was 37.8 degrees Celsius, and she has never had a high fever yet. She has a high tolerance to pain and never cries. Her cry is more of a whine than a baby cry. She is only four kilograms now, but she is strong when she does not have a cough. However, she is hypotonic at the neck even though her arms and legs are strong.

Not even the US GARD or the US National Library of Medicine has a record about her case. It seems she is the only one recorded in the world right now. I hope there is a similar case out there or experts who can help us understand her condition.

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