Friday, December 15, 2017

Sister sister



Genetic Counselor Called Today...

**JJ’s sisters DO NOT have the SPiNK1 mutation!!**

This is a sigh of relief. 

Counselor is expecting more developments within the next month or so on deletion and duplications of the PRSS (hereditary pancreatitis gene), CFTR (cystic fibrosis gene), and SPINK1 (gene associated with hereditary pancreatitis).  There may be more blood work for Jaylen at that point. In the meantime we pray for health and always happiness!

Happy Holidays!
&
Thank You God! 


Sunday, November 26, 2017

Update November 2017




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.


Wednesday, May 17, 2017

May 2017


Our JJ has made it through another flu season. Much less severe episodes compared to last year with no hospitalizations.

Jaylen had a specialist check up on May 4th.  No new tests needed other than a pancreas function test. The sample was taken and tested that day when we came back to IL.

We got the results this week and it showed that his pancreas function went UP! His slight to moderate pancreas insufficiency actually came back up to NORMAL function! Don't know how or why and we may never know. All we know is that his previous declining numbers are up to 423.5 u/g. To us it is amazing news! The calls have been made to the specialist for some sort of explanation, but regardless it's a miracle and sigh of relief for now.

Amazing kid- Amazing results