Saturday, March 9, 2013

Writing A Child With Fragile Bones

I have a character who is a young child with a broken bone. When the parents take her to the ER, they’re accused of child abuse, but they’re not abusive. They claim the kid’s leg broke as they changed her diaper. What kind of disease might a kid have that would lead to easy fracture without abuse?

I'd suggest Osteogenesis Imperfecta, or brittle bone disease.

This genetic disorder affects boys and girls equally; it is generally inherited as a dominant trait (at least one parent has the disease) although a few are the result of both parents having a recessive gene (they don’t exhibit the characteristics of the disease). Regardless of the origin, the disease is caused by abnormal collagen.

Bones are initially formed of collagen. Crystals of calcium hydroxyapatite are deposited on the collagen framework, giving the bones strength. An abnormal framework leads to “imperfect” deposition of calcium, and the bones are weak. Although this is an inherited disease, about one third of patients have no family history of the disease, and represent new genetic mutations.

There are several different types of Osteogenesis Imperfecta. The first three are the most common and would be the options for your scenario.

**In Type I, the collagen is normal but isn’t produced in enough quantity. Bones break easily. The patient may have increased joint flexibility, ie, “double-jointed.” The whites of the eyes may be bluish gray in color due to thin collagen. The teeth may or may not be abnormal. Hearing loss is common.

**Type II victims have very abnormal collagen and usually die within the first year of life. Death is due to respiratory failure (due to chest wall deformity) or bleeding inside the head.

**In Type III, the collagen is insufficient in quantity and abnormal. Fractures before birth can be detected, and the bones fracture easily with minimal stress. The affected kids are often short, with wide ribcages and the abnormal blue-gray color of the whites of the eyes. Frequent hearing loss.

Type III would be the most likely type to fit your scenario.
For more information, I suggest the Osteogenesis Imperfecta Foundation:

Hope this helps.
Cheers, Kelly
Kelly has worked in the medical field for over twenty years, mainly at large medical centers. With experience in a variety of settings, chances are Kelly may have seen it.

Sometimes truth seems stranger than fiction in medicine, but accurate medicine in fiction is fabulous.
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  1. Wow. I never knew that this existed, it's scary what can happen to a child. Anyway, great informative blog once again.

    1. Hi, Madeleine.
      Yep, it is scary--like a genetic lottery. Fortunately, it's relatively uncommon. Thanks for reading!
      Cheers, Kelly

  2. This is a comment I just posted on an older question concerning a revived code blue:
    Hi Kelly, I run simulations for nursing students and we do a code blue every semester. I don't have any emergency experience with adults. You mentioned above that the once a patient regains a pulse the blood pressure MIGHT be 90/50. If the patient comes back in sinus tachycardia wouldn't the blood pressure be higher than that? Or would a patient come back tachy?