Big Diagnostic News!

I was not anticipating a phone call this morning that would bring relief along with a complex emotional reaction after years – almost six, to be exact – of wondering and hoping for answers.

I’ll back up a bit. Two years ago, Kiran underwent whole exome sequencing, which is the most thorough genetic testing available, I think even still, but certainly two years ago. His genetic report came back with a misspelling on RAB11B. At that time, this misspelling was considered a “variant of unknown significance”, which basically means there wasn’t enough data at that time to say anything about it for certain. They would not say that the misspelling was responsible for Kiran’s medical issues.

Our genetic doctor at the time speculated that it made sense that it was – but cautioned that we couldn’t know for sure just yet – but it was a misspelling that was being actively studied.

Today, I got confirmation that they have indeed upgraded this misspelling to a “pathogenic variant”. This basically means that they now have enough information to definitively say that those with this misspelling have certain medical and developmental characteristics that are caused by it.

Kiran is still unique with his heart defect, as none of the other (3-4) known kids have complex heart issues. But this means we can look more confidently at the two studies we have to get an idea of what is in Kiran’s future. And hopefully, now that the misspelling got its upgrade, more people will be found that share the diagnosis.

I love definitive answers and new information, and it’s nice to have another piece to the puzzle – the biggest piece – as to why Kiran is who he is.


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