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

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.