Gravely Sick Baby Saved by "Rapid Sequencing" - The Importance of thorough History!

A very interesting story coming out of San Diego California shows the great hope and promise of Genomic Decoding!

What in the world is genomic decoding? Genomic Decoding (or genetic sequencing) is the ability of specially trained healthcare providers to rapidly identify disease processes in the human body by examining a persons DNA structure.

This process actually determines the nucleic acid sequencing within the DNA molecule. it is a very young technology, beginning in earnest back in 1970 at Cornell University. I can still remember back in 2003 when it was declared that the human genome (The complete set of genetic information in an organism) was fully mapped. Very Exciting!

Now then, back to our story. A little 5 week old boy was brought into the ER at a San Diego Hospital. His initial complaint was “seizure activity” and he was inconsolable. A CT scan of the child's brain was performed and everything was pointing to encephalopathy (a big word meaning that something is affecting the functioning of the brain). There are about 1500+ diseases that can cause encephalopathy!

During the course of this patient encounter, there was one bit of history that gave the doctors a major clue. That clue was the fact that 10 years before this episode, this 5 month old boys sister presented to the doctor with similar symptoms, and eventually died at 11 months.... This bit of information triggered the doctors minds to perform rapid sequencing on the baby.

In less than 36 hours, they had their diagnosis. The sequencing itself took only 13 hours. The child had a rare genetic disease called "THMD2." This disease can cause seizures, loss of movement control, and ultimately....death! Amazingly, this disease is easily treatable with high doses of Thiamine and Biotin (which he will have to take the rest of his life). Within 6 hours of initiating treatment, the baby was calm, taking a bottle and the seizure activity had stopped!

You can see why the medical community is so excited about this new weapon in the fight against disease! This technology is not yet widely available, and certainly not the rapid technology that was used in this patient encounter....

Some companies are now offering genetic sequencing for under $1000, while the technique that was used for the patient above was about $8500. Insurance companies are now grappling with the concept and trying to determine the financial ramifications of covering this new technology.

This story brings several things to our minds for consideration:

1. We should stop and thank God for the advancements of science that are helping to make us safer and healthier.

2. We should remember that an inconsolable child is always a worrisome sign and should be investigated. My physician friend, many years ago, told me that in patient care, you needed to be investigative. He told told me that when things don't make sense, keep digging....keeping investigating....keep discovering! There is always an answer....we just have to find it, if we can....

3. We should remember that a thorough history (in any area of life) can provide valuable clues. So many times in life, people shoot from the hip, assume they know everything that is going on, and bluff their way through life appearing to be so intuitive and perceptive and yet really don’t have a clue which way is up or down.