Turns out it sounds worse than it is. Received an unexpected communication from Kiran’s genetic doctor yesterday regarding his upcoming appointment next week.

First, the cool stuff: There has been another published research paper on RAB11B, bringing the total of kids with some variant of this genetic disorder to 13 in the research! Kiran’s variant is the most common among the 13. There are still no kids reporting congenital heart defects.

So the question his genetic doctor and the doctor who runs the research at the U of I for undiagnosed diseases have is this: are his congenital heart defects part of RAB11B or does he possibly have a second rare disease/disorder that has yet to be identified?

So they want to do a skin punch biopsy, which you shouldn’t Google. It is actually just the size of an end of a pen, only uses topical anesthesia, typically doesn’t hurt at all, and will only take a couple days to heal (no stitches involved)! They are going to grow skin cells using his and extract DNA, RNA, and protein cells, in order to get more information on the non-coding portions of his genes. If I’m remembering and understanding the conversation correctly (I’m away from my notes). So it allows whole genome sequencing, which gives more information than the whole exome sequencing previously done did. The goal will be to create stem cells and manipulate them into neuronal cells and heart muscle cells, allowing them to potentially determine what is causing (in his complex genetic makeup) his brain and heart to develop the way they did. And eventually, way down the line, it could potentially provide information for treatment.

What I find most cool about it all is how unique Kiran is and how important his piece to the RAB11B puzzle is. They are actively looking at his case and writing up his information to hopefully be published, especially if this research can provide more answers.

Of course when you dig this deeply into someone’s genetic makeup, you have to think about big questions, like: If they find the material that leads to cancer in adulthood, would we want that information or not? So there is still a lot to think about before next week.