First, you will want to find a doctor who is very knowledgeable of the brittle bone disorder. Your doctor will need to go over the following questions:
Fractures - amount and age of occurrence and activity that caused the fracture.
Teeth problems.
Hearing loss.
Gray/Blue sclera - the "whites" of the eyes.
Hypermobility of the joints (i.e. hips, knees pop out or are more flexible).
Double jointed fingers, toes.
Thin, transparent skin.
Excessive sweating.
Scoliosis.
Hernias.
Heart valve problems.
Any type of bone or skin disease.
Any metabolic mineral/vitamin deficiencies.
Clinical geneticists can also perform Collagen or DNA tests that can help analyze this bone disorder in some situations. They look at the amount of collagen in the bones and how it is configured within the bone. These tests generally require several weeks before results are known.
Approximately ten to fifteen percent of individuals with this bone disorder who have collagen testing and approximately five percent of those who have genetic testing test negative for OI despite having the disorder. DEXA Bone Mineral Density Scans are also performed to diagnose this bone disorder.
Dermatologists may perform a test known as a Fibroplast Skin Biopsy to examine the amount and structure of collagen to test if a bone disorder is present. A small circle of skin is punched out of the skin in the forearm. During this process, the patient is put under topical anaesthesia to minimize the pain. One or two stitches is usually required to close the area. The sterile sample of skin is then placed in a sealed container and sent to a lab to be cultured so that the skin fibroblast cells can grow and produce collagen.
There are only a few labs in the United States that can perform this test. The sample is then isolated and protein studies are completed - gel electrophoresis. A protein will migrate various distances through a gel based on its size, number of charges, and shape. A big protein doesn't go very far and small proteins move the furthest.
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