Yesterday we spoke with Cole's immunologist, the genetic counselor felt as we've already discussed the HLH at length with immunology, there wasn't much more to add with a session. Hopefully this means the sample for the test can be drawn at the same time as his routine labs before his infusion starts. The less Cole is a pin cushion, the better!
This test should only take around four weeks for results. Even though we have the first exome sequencing results, this test will provide a better look at the STXBP2 coding, which is the primary gene the physicians are concerned about. While the test is expensive, it ultimately can change the course of where we are headed. If it is decided that yes, HLH is a certain risk, we will be immediately referred to Cincinnati Children's to meet with the HLH experts and develop a plan of action. If it is determined HLH is unlikely, Cole's team of physicians can focus on other roots of his nk cell issues. If we decided to wait on this test, in the event of an HLH episode, the timeliness of moving forward could be devastating as we waited for a plan to be put in place.
To us the choice was obvious, do the test. The wheels for this one will be in motion in just a few days. Not by any means do I want to wish away summer, but my nervous excitement cannot wait for the beginning of September, by then we will have another piece of the puzzle. That is priceless.
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