Jaylen has had a few small episodes already this flu season. He has missed a handful of days due to the exhaustion and pain. We are praying for no hospitalizations this year again :)
At the end of the summer, JJ had what is called a WES or Whole Exome Sequencing. It is a genetic panel that tests for any abnormalities or variants in his DNA sequences. They’d be looking for these because some doctors are still convinced that the mutation in the SPINK1 doesn’t actually cause the recurrent pancreatitis on it’s own. It has to have another mutation or sequencing or variant that acts with it.
We are pleased to announce the WES came back with —no variants in his disease genes that are reported to be associated with the SPINK1 mutation. This test also looked for 59 different disease causing gene variants. All these were negative— which is awesomeness! Still confuses the genetic counselor but it is what it is at this point. JJ is a very special kid no matter which way you look at it.
The genetic counselor will have results on the SPINK1 mutation for Jaylen’s two sisters by December 20th-finally! I will try to post another update after the Holidays. We are continuing to try to pump JJ full of Antox, vitamin C, probiotics, and any other anti-inflammatory vitamin we can find. Pain is controlled by ibuprofen and Tylenol.
He is such an inspiration to his dad and I. He will continue to enjoy every good day! Love him.