Whole Genome Sequencing

Addysons Whole Genome Sequencing came back after some mix ups. Her blood work from today also came back abnormal

In her genome: They refound her MEFV Gene and her CHRNB2 Gene. They also found another gene: UGT1A1 *1/*28.

The ugt1a1 gene means that she is a Intermediate Metabolizer. We were told that this means that she only metabolizes part of her medications, then the rest just floats around and doesn’t get metabolized.

We were directed to go back and talk to all of Addyson’s prescribing doctors and discuss dosage changes on her meds.

They said that they have not found the MEFV gene variant and the CHRNB2 Gene together in other patients so she is still a Question (?) Mark.
This gets frustrating. I know genetic testing is still new and there is lots to learn yet but it’s tough being told that we have exhausted all the tests out there and now we just treat symptoms. She’s still a mystery

We will continue to re-analyze her Whole Exome and Whole Genome yearly.

In her cbc: her white blood cell count is low, her neutrophils are low and her lymphocytes are high. Looks like she neutropenic again and we are waiting for the team to talk to us about her lymphocyte count.

Her iron infusion today went good – no reactions!!! Now we wait to see if her body holds onto the iron

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