Jan 7, 2016

Then...

So, here's some more back story on what's happened prior to CJ's current adventures.

I was born with bilateral retinoblastoma, a genetic defect in the RG1 gene, which was passed down from my mother.  My right eye was removed and left eye was damaged while very young (all prior to six months).

A few years ago, my girlfriend and I found out she was pregnant- after she had been told for nearly a decade that she was unable, due to a combination of issues.  She was approximately 25 weeks along when we figured this out.

Knowing of the genetic condition, we proceeded to start working with genetics to get testing towards learning if our son would have the condition.

Our son was born premature, and began regular testing and eye exams under anesthesia in Rochester, acting as though he did have the gene, until the DNA tests came back.

In approximately 5% of cases, the specific defect is indiscernible in DNA testing.  Results from testing found that I fall into this 5%.  The next step was to compare my father's RB1 gene to my son's- if they were the same, it meant he didn't have the defective RB1 gene.

No anomalies were ever found and it was later confirmed that his RB1 gene was the same as my father's, which meant he did not have the condition.  My blood is still undergoing a more lengthy process of RNA testing to have specific markers for the future.

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