Contributed by Adira’s mom Ashley. The first inkling that something wasn’t right came at my first ultrasound. My baby’s femur was bent at a 90-degree angle when it was supposed to be straight. A subsequent ultrasound showed fractures in her skull and irregular shaped ribs. I was referred to a large prenatal referral center for an amniocentesis that confirmed a diagnosis of Osteogenesis Imperfecta (OI). Consultations with the prenatal group suggested that this form of OI was very severe and incompatible with life. I was devastated and searched the internet to find help. Miraculously, I connected with a mother who had been in a similar situation. She referred me to the Osteogenesis Imperfecta Program at Nemours Children’s Hospital, Delaware. We met the entire OI team the same day and geneticist, Dr. Michael Bober told us, “I promise you that we will do everything we can for your baby.” Additional […]
