Osteogenesis Imperfecta · pregnancy · Prenatal Diagnosis

A New Conversation: Prenatal diagnosis, Genetics, Rare + the 20-week Anatomy Scan

"This was the gut-dropping, body-numbing moment…. this was the moment that we can refer to as the moment…. where there is a before this moment… and an after this moment…. this is the moment that divides… that creates the before photos… where I look at myself and think, “Oh, that’s the woman who she was before everything… Continue reading A New Conversation: Prenatal diagnosis, Genetics, Rare + the 20-week Anatomy Scan

Niko Gian · Osteogenesis Imperfecta

Pamidronate treatment

Pamidronate //::  in the bisphosphonate family, a class of drugs that prevent the loss of bone density. "Previous studies of OI bone have suggested that abnormal activity of osteoclasts and osteoblasts (the cells that form new bone) contribute to the bone's fragility. In normal bone, the osteoblasts are producing new, healthy bone to replace the older bone… Continue reading Pamidronate treatment

Osteogenesis Imperfecta · Prenatal Diagnosis

Why it is inappropriate, unethical and negligent to diagnose a baby in utero with a lethal form of Osteogenesis Imperfecta (OI)

  With the expansion of prenatal genetic testing, must come the expansion of dialogue as it relates to the ethical ramifications of prenatal diagnosis. I am not a medical professional, nor a genetic specialist. I am the parent of a child with Osteogenesis Imperfecta (OI), a rare genetic condition. I am a woman and patient… Continue reading Why it is inappropriate, unethical and negligent to diagnose a baby in utero with a lethal form of Osteogenesis Imperfecta (OI)

joy · Prenatal Diagnosis

Orange Socks: Inspiring Life Despite a Diagnosis

Last weekend, our family was interviewed by the President of Orange Socks, and we couldn't be more grateful for the opportunity to share our story. March 1, 2017, we went in for a routine ultrasound appointment, the 20 week anatomy scan. After 45 minutes of checking measurements, the ultrasound technician said, "I need to call… Continue reading Orange Socks: Inspiring Life Despite a Diagnosis