Diagnosis

Last evening my genetic counselor called and updated me on the amniocentesis results. She called the lab and said results should be in that night! I would get a call in the morning. It’s been a very long, almost 5 weeks of waiting. I wouldn’t say I was excited, but I would have some relief of an answer. This morning shortly after 9, she called. Osteogenesis Imperfecta. During these past 5 weeks I researched a lot of the skeletal dysplasias, but really didn’t look into OI. She said it’s a mutation to the col1A1 gene. And most likely a spontaneous mutation. Well that is good news. She offered a blood test to see if either Jim or I are carriers. We will most likely be taking that at our next appointment. I asked what type of OI it was, since I know there are different types ranging from very mild to fatal. She said it does not specify, there’s no way of knowing for sure what type until actually looking at the person and performing tests. She said based off of ultrasounds it is most likely the most severe type, which would be type II.
Here is a google definition of the diagnosis:
Osteogenesis imperfecta type 2 is a recessive trait with males and females affected. Two copies of the mutant gene are needed to cause the disease. The disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclerae (whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth. There is bowing of limbs due to multiple fractures. This disease (also called osteogenesis imperfecta congenita or Vrolik disease) is usually not compatible with life. The children are usually stillborn or die of respiratory failure in early infancy. The condition results from mutations that impair the production of type I collagen, a key component of connective tissue. Mutations responsible for osteogenesis imperfecta type 2 have been identified in both the COL1A1 and COL1A2 genes. (COL1A1 is the gene for type 1 alpha-1 chain of collagen (COL1A1) and is located in chromosome17q21.31-q22.05. COL1A2 is the gene for type 2 alpha-chain of collagen (COL1A2) which is in chromosome 7q22.1).