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: http://www.oif.org/site/PageServer/
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.
Find her fiction at www.kellywhitley.com.
Sometimes truth seems stranger than fiction in medicine, but accurate medicine in fiction is fabulous.
Find her fiction at www.kellywhitley.com.
Wow. I never knew that this existed, it's scary what can happen to a child. Anyway, great informative blog once again.
ReplyDeleteHi, Madeleine.
DeleteYep, it is scary--like a genetic lottery. Fortunately, it's relatively uncommon. Thanks for reading!
Cheers, Kelly
This is a comment I just posted on an older question concerning a revived code blue:
ReplyDeleteHi 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?