Author: Bina ShahPatient or Advocate: Bina ShahDisease Affiliation: chromosome 8p
My daughter beams with light and gives hugs to everyone around her, from a stranger to her brother, so long as she senses positivity. Even all of her specialists (over a dozen!) receive a huge embrace with a cheek to-cheek-smile from her. She is smart, and she captivates those around her.
She was born with every cell in her body, but a rare chromosome anomaly in the 8th chromosome. Some of her genes are missing, some are duplicated, and some are flipped around. And nobody has a clue as to how this happened.
When we first received the Chromosome 8p diagnosis, we were told, “Good luck, she’s not going to Harvard. You should seek parent counseling.” As you can imagine, there were endless tears that emptied the tissue box on the car ride home. And after. The 1st brochure we received from a genetics counselor came with the caveat that it was 30 years old. This diagnosis was so rare that they couldn’t tell me what her symptoms would be, all they could do was offer a range. The range was