Osteogenesis Imperfecta

Osteogenesis Imperfecta

We are trying to A tested for OI.  Although no one in our family has a confirmed diagnosis of OI, that doesn’t mean that A can’t have it.  I’ve done so much research on OI – which I only became familiar with thanks to Jodi Picoult’s book “Handle With Care” (which you should read!). 

·         OI Type I is the mildest and most common form of the disorder. It accounts for 50 percent of the total OI population.  Type I is characterized with mild bone fragility, relatively few fractures, and minimal limb deformities. The child might not fracture until he or she is learning to walk.

·         Shoulders and elbow dislocations may occur more frequently than in healthy children.

·         Some children have few obvious signs of OI or fractures. Others experience multiple fractures of the long bones, compression fractures of the vertebrae, and chronic pain.

·         The intervals between fractures may vary considerably.

·         Blue sclerae are often present.

·         Typically, a child’s stature may be average or slightly shorter-than-average as compared with unaffected family members, but is still within the normal range for the age.

·         There is a high incidence of hearing loss. Onset occurs primarily in young adulthood, but it may occur in early childhood.

·         OI Type I is dominantly inherited. It can be inherited from an affected parent, or, in previously unaffected families, it results from a spontaneous mutation. Spontaneous mutations are common.

·         Biochemical tests on cultured skin fibroblasts show a lower-than-normal amount of type I collagen. Collagen structure is normal.

·         People with OI Type I experience the psychological burden of appearing normal and healthy to the casual observer despite needing to accommodate their bone fragility.

·         The absence of obvious symptoms in some children may contribute to problems at school or with peers.

·         Family members should carry documentation of the OI diagnosis to avoid accusations of child abuse at emergency rooms.

·         Look for clinical features of OI in the child – blue sclera, translucent, opalescent or discolored teeth (even in unerupted teeth in babies), a triangular shaped face, barrel-shaped rib cage, easy bruising, thin skin, excessive sweating and other features.  However, it is possible for children with OI to exhibit none or few of the outward clinical features.

 Consult a health care professional who has experience diagnosing or treating children with OI. OI remains primarily a clinical diagnosis. Generally, clinical geneticists are familiar with OI diagnosis. They have available to them biochemical (collagen) and molecular (DNA) tests that can help confirm a diagnosis of OI in some situations. A skin biopsy can be analyzed to determine if the quantity or quality of type 1 collagen is abnormal. This approach identifies almost 90% of persons known to have OI. A DNA test can be done on a blood sample to try to locate the mutations that cause OI. Several hundred mutations have been identified. This test identifies about 90% of people with OI. A few individuals test positive for OI on one test and not the other. Approximately 10% of individuals with mild or moderate OI test negative for OI through collagen or DNA testing, despite having the disorder. 

It has been estimated that 7% of children who have signs suggesting abuse have an underlying medical condition that explains the injuries (Wardinsky). Besides OI, other conditions that feature fragile bones and bruising include Ehlers-Danlos syndrome, glutaric acidaemia type 1, hypophosphatasia, disorders of vitamin D metabolism, disorders of copper metabolism such as Menkes syndrome, and premature birth (Marlowe).

OI is not normally associated with calcium or phosphate deficiency, so it cannot be diagnosed by measuring the levels of these substances in the blood.

OI won’t be tested for while we are in the hospital.  The Dr wants to wait and refer us to see a geneticist after we are discharged…you know, where A goes to someone else’s house and I go “home”.  I will spend the next few days researching every angle, contacting every person I can and fighting for every inch I can get.

All the information in this post came from www.oif.org.  The website for the Osteogenesis Imperfecta Foundation.  It is a wealth of information.

Can our solution be Osteogenesis Imperfecta?