Sunday, February 2, 2014

The Infantile Spasms study is launched

Genetic testing gets underway with blood-taking
Here is more about that genetic study in which the three of us are now excited official subjects.

It is being conducted together with another local university and a third one in the United States, the name of which the geneticist wasn't sure. After a Google hunt, we believe it's the University of Colorado.

Here's the brief synopsis we were given of the study. Stage I involves testing for the 140 genes that have been linked to Infantile Spasms, a harsh form of epilepsy with which C. was diagnosed years ago.

If no anomalies are found on any of those 140, then the study proceeds to Stage II and full exome testing.  

If there is still no anomaly found that could conceivably be linked to C.'s condition, the study proceeds to Stage III: full genome testing. This involves the remaining 99% of DNA.

Being given this opportunity absolutely for free is as close to winning the lottery as we're likely to get in this lifetime (since we never buy tickets).

The results of Stage I will be available in a few months. The subsequent stages will take up to two years. I wonder if any of the 29 other families in the study were as thrilled as we were to give blood last Thursday.

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