Unexpected

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

Repeat copper test.

Here are some updates for you all. :)  Thank you so much for continuing to pray!

The past two weeks, I started experiencing sharp pain in the ball of my right foot---it became very painful to bear weight on it.  I saw Orthopaedics, and the doctors think I'm dealing with something called metatarsalgia which is pain, swelling, and inflammation of the metatarsal bones/joints in the foot.  Thankfully, it's improving!  Ice and rest has helped. :)  The doctors also referred me back to occupational hand therapy because my right hand has been cramping up a lot again, even when I wear my splint that the therapist made for me.  I see them next week after physical therapy.  My left hip/leg muscles have also "shortened" a ton which is causing severe charlie-horses (muscle spasms) and an inflamed sciatic nerve.  So my therapist is working on this.

Using BiPAP at night has been going so well!  I'm tolerating it much better than CPAP. :)  I have a follow-up with my sleep dr. next month.

My neurologist called me yesterday with my overnight video EEG results...thankfully, no sign of seizures!  I'm glad I don't have to add another problem to my plate...the jerking I deal with daily is non-epileptic. :)  She said she still saw brain wave "slowing," but it's not constant which is a good thing.

On Tuesday, I saw my GI specialist.  We discussed how my 24 hr. copper results came back very high. :(  He wants to repeat the test, and if it's high again, he said we have to get a liver biopsy done. :/  He doesn't want me to have to go through that, but if the 24 hr. copper results are high this week, it's a big indication that I probably have Wilson's Disease, a genetic copper metabolism disorder that causes copper build-up in the body and damages the brain, liver, and other organs.  We'll hopefully get results next week..

The GI dysmotility has been really rough lately. :(  Soft food I eat is not moving well down my esophagus, and the abdominal distention and pain is lasting longer each day.

I've been on TPN (IV nutrition) for more than 8 months now..

I wanted to share a few pictures I found on ThriveRX's facebook page (a company that makes TPN).  I thought it was cool how TPN is put together!

Everything has to be sterile because TPN goes directly into the bloodstream.  This reduces the chance for sepsis (infection).