A five-week old
child fought for her life at Children’s Mercy Hospital in Kansas
City, Mo. From the day she was born, the child experienced countless seizures
and doctors were unsure why. Every medication possible was diagnosed and tested
and all failed, after weeks of desperation the family decided to let go of
their baby. Doctors suspected that this rare occurrence was due to a genetic
disorder. During this unfortunate situation the hospital was studying how to
quickly analyze the DNA of newborns and identify particular mutations that
cause disease. The recent study of early detection was published in the
magazine Science Translational Medicine and is a proof of concept. A report was
conducted with four babies that it is possible to “quickly scan a baby’s entire
DNA and pinpoint a disease-causing mutation” within a few days than the average
weeks to months period. The baby had a mortal gene mutation, so rare that it
had been reported just once before. Doctors analyzed a sample of the newborns
blood and within 50 hours their conclusion was the rare gene mutation. This
test could have been followed through within days of the newborns birth however,
“there was no treatment, there was not anything that could have changed the
outcome,” Dr. Petrikin said. “But we could have more appropriately counseled
the family and bypassed what had to have been intense suffering.”
* Information obtained at www.nytimes.com
* Pictures obtained at www.nytimes.com & www.unistelmedical.co.za
Figure 11.1
Figure 11.2
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