Leigh, Kym, William, Jorryn, and Macyn … and our adventures!

Yesterday was a “light” day at NIH! We went in in the early afternoon, and Leigh had another PET scan, and that was about it!

We spoke with Karen, the Clinical Coordinator, and we have our ENT consult scheduled for sometime next Wednesday morning; we’re still waiting to hear when our thoracic surgeon consult will be.

While they know that Leigh has this genetic mutation, there are two that he could have, and they have not received a definitive answer on which one it is. That being said, I spoke to Karen again yesterday regarding the genetic testing for the girls. Because they don’t know which mutation to test for, they can’t do the testing quite yet. But, we are bringing Jory in tomorrow to have her blood drawn. They will preserve her blood until they have Leigh’s results back and then they will test hers as well. They will not test Macyn until she is 18 months old. If the girls’ results come back positive for the genetic mutation, then they will also undergo scans to see whether or not they have these masses. They do not, however, do the scanning until age 5, so should Jory have the mutation, she will be able to have them whenever we are able to get them schedule; Macyn, regardless of the results of her tests 10 months from now, will not be able to have the scanning done for another 3.5 years after that.

Today’s schedule consists of another CT scan (this time a specialized one of his right ear) and a series of MRIs on his chest, abdomen, and pelvis. Tomorrow is another MRI (not sure what that one is of off the top of my head!) and Jory’s blood tests.


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