Sep 19, 2015

Hello friends,

Yesterday, I received some unexpected news.  A few months back, my hematologist referred me to rheumatology to get their input on why I’m still having persistent fevers.  I saw them end of July, and the doctor ordered an extensive genetic panel to test for all 7 Periodic Fever Syndromes that there currently are.  It was completed through the same lab that did my Whole Exome Sequencing.  Well, yesterday, my rheumatologist’s office called and told me that a mutation was found.  *sigh*  I can’t believe my doctors continue to find more and more mutations in my DNA. 🙁 

Both Hematology and Rheumatology thought it was unlikely that I have a Periodic Fever Syndrome to add to my long list of conditions, but you know me….I’m rare.  Mitochondrial disease is rare.  Ehlers-Danlos Syndrome is rare.  Complex Regional Pain Syndrome is rare.  Dysautonomia is rare.  And before all this, I never heard of any of these disorders!

My rheumatologist didn’t tell me what exact PFS I have, but they are sending me the report.  He referred me to his colleague who specializes in the disorders.  Now, here’s the sad part—this specific dr. is booked out until January…! 🙁  So, more waiting to do..  I was placed on her cancellation list in case any of her other patients cancel.

Still processing all of this.  But I know that the Lord has a good and perfect plan behind each and every mutation.  I know that I am fearfully and wonderfully made (Psalm 139). 🙂  One day I will have an answer to all of my questions!  But until then, I will continue to serve my Savior in any way I can. 🙂

On top of all this, we found out that my repeat 24 hr. copper results are still elevated.  This week, my GI dr. spoke with another copper expert at Yale.  He suggested we do a third 24 hr. copper test (hopefully my last!) the beginning of October..  If the results have dropped, then Wilson’s Disease is more unlikely..  If they’re still high, I guess we go from there..  I just want to rule it out once and for all!  And if I do have Wilson’s, I’d like to begin treatment quickly before my brain/liver gets damaged..

Not much else happening. 😉  Still doing weekly physical therapy and occupational hand therapy.  I’m thankful for my therapists who work with me so much!

Once I receive a copy of the PFS results or hear back from my rheumatologist (I sent him a message today to get more info), I will let you know! 🙂  Thank you for continuing to pray!  It means a lot to me!

“But for you who fear my name, the sun of righteousness shall rise with healing in its wings…” ~Malachi 4:2

Post written byKerissa

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