Thoughts on waiting.

Hey friends,

Tomorrow, rheumatology is getting me in for the Periodic Fever Syndrome, and I'm so thankful to the Lord that it's much sooner than January. :)  The appointment is at 1 PM.  Please pray that this specific dr. will be able to start treating it.  The numerous fevers are hard on my body, and I've been dealing with episodes of joint pain and inflammation since August.

I received my repeat 24 hr. copper test results, and sadly, the level increased from 77 to 106 in just a month (normal range is 3-50).  We have lots to discuss with my GI dr..  I see him this coming Monday.  I also have a follow-up with my sleep medicine specialist next week.

I will update after those appointments!

To end, I recently came across this little "devotional" I wrote years ago.  I can't remember if the homework assignment was to paraphrase a passage or an original composition.  I don't even recall when I wrote it (my bad for not putting a date!)...maybe it was after being newly diagnosed with Complex Regional Pain Syndrome (aka Reflex Sympathetic Dystrophy) or when I started dealing with all my other numerous rare diseases.  Nevertheless, I wanted to share it in hopes that it encourages you. :)

The Hardest Thing to Do

by Kerissa

          Wait.  Sometimes, this word can be the hardest to accept when in times of trial or tribulation.  There will be times when we ask with little faith, "Why do I have to go through this?" or "God, why am I suffering?"  What can be done about these questions when one is anxious for answers or does not know what path to take?

          Although waiting on God and humbling one's self can be the hardest thing to do, God states in His Word that His "plans...stand firm forever, the purposes of his heart through all generations."  We should not worry about anything because He always intercedes at the right time.  Psalms 27:14 says, "Wait for the Lord; be strong and take heart and wait for the Lord."  Complaining like the children of Israel did against Moses will do nothing.  Waiting in quiet patience and faith, even when under affliction, will bless God and make Him proud.

          If we accept our difficulties with humbleness, we will be able to say with confidence, "Now, Lord, not my will, but Yours be done.  I do not know what to do.  But I will wait until You drive back my foes.  I will wait, for my heart is fixed on You alone, O God, and my spirit waits for You in the full conviction that You will be my joy and my salvation, my refuge and my strong tower." ~Charles Spurqeon

          So wait on the Lord.  He really does hear our cries and prayers.  Know that God is always by and on our side.  In the end, we will all be able to understand why God placed those terrible thorns in our path, and someday we will thank God for the word "wait" in each of our lives.

Dealing with infection.

Oh I just can't catch a break. :(

Last week, I had to say goodbye to my home care nurse. :(  She changed my central line dressing site and drew labs at my house every single week for 9 months.  Long story short, the home health agency she worked with got bought by a huge company.  She didn't really like all changes involved, so she found a new job.  I'm going to miss her!  She was a very caring and compassionate nurse!

For the past week or so, I started experiencing severe pain, intestinal spasms, and other symptoms near my jejunostomy feeding tube.  The pain's been so bad that I wanted to go to the ER on Tuesday!  Thankfully, I was able to avoid going because my GI surgeon squeezed me in this past Wednesday.  She thinks I have an infection because the whole area is inflamed and bled a lot.  That would explain why I haven't been feeling super great lately.  She had to do a "needle and drainage" procedure right then.  That was so painful, and the needle was huge!  I've been started on 3 days of antibiotics.  If things don't improve soon, she wants to see me back.  She'll order more imaging like an abdominal ultrasound to look into this further.  Praying this gets better because the pain is horrible! :(

I had a total of 5 appointments this week.  Saw Cardiology, and my dr. is pleased to hear that the additional sodium to my TPN helps reduce the dizziness and high rates.  Still haven't had a chance yet to dissolve sodium chloride tablets and flush them through my tube, but hopefully next week!  I see him again in 6 months.

I met my new home care nurse yesterday afternoon.  And so far I like her---she's very easy going and laid-back! :)

The Periodic Fever Syndrome mutation I have is related to a rare auto-inflammatory disorder called Familiar Mediterranean Fever.  And the funny thing is, I'm not Mediterranean. lol  Basically, the gene MEFV is defective and can't regulate inflammation.  My rheumatologist spoke with his colleague to see if she can get me in sooner than January.  She said she'll look at her schedule and try to get me in asap.

I received a copy of my continuous video EEG report, and my neurologist noted that I have diffuse cerebral dysfunction and diffuse "slowing"...  Sounds lovely, right? ;)  Just another finding to add to my long list..

Continuing to rely on the Lord for His help because there's nothing else I CAN do.  He is my rock and fortress!

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).

More tests to be done

Today, I saw my GI specialist.  It wasn't very good news.

I mentioned in my previous post that some of my lab work has been steadily dropping even with 6x the normal amount of IV copper in my TPN.  This past Friday, my GI dr. personally called me to talk about what may be going on.  He told me that he's going to get in touch with some doctors who specialize in copper metabolism diseases (a dr. in San Francisco and one on the East coast).

So this morning, he was able to connect with the dr. in SF.  This expert suggested looking into a rare metabolic disorder called aceruloplasminemia.  My GI doc researched it but doesn't think I have it.  So now he's going to call the East coast dr. to get his opinion.

In the meantime, he's ordering a 24 hr. copper test (he wants to avoid a liver biopsy as much as possible) to further look into a genetic disease that causes copper build-up in the brain, liver, and other organs.  Even if the results are "normal," that's a bad thing because that means copper is building up in my organs and not being removed by the body.  So, basically, the results will not be good regardless if they're "normal" or "abnormal."  We don't want either but it's going to be one or the other.. :/

It's hard to believe that my doctors are looking into yet another rare genetic disease to add to my long list, but these lyrics from one of my favorite songs by Michael W. Smith keep coming to mind:

Even what the enemy means for evil
You turn it for our good
You turn it for our good and for Your glory
Even in the valley, You are faithful
You're working for our good
You're working for our good and for Your glory

Give this beautiful song a listen. :)  It's so encouraging, and the words are profound!  I know that whatever happens, even if I get diagnosed with another potentially fatal disease, the Lord is sovereign!!

P.S. My GI dr. wonders if a small bowel transplant could help my GI dysmotility (out of curiosity's sake, he's going to look into it).  I'm sure it would never happen, but if it can help, that'd be amazing! :)

Long overdue appointment updates.

Hello friends,

I'm sorry it's been so long since I last updated.  This month has been crazy full of appointments!  On top of that, my older brother got hit by a car (not his fault) when he was riding his motorcycle on the way to his work two weeks ago. :(  The Lord is so good---things could have been way worse.  My brother was life flighted to one of the trauma hospitals in Portland, but we're so thankful he didn't have any severe internal damage.  He did have a broken collarbone, 5 broken ribs, lung contusion, and other injuries.

It's been really fun having him stay at our house to recover!  We play games and watch a lot of movies together. :)

Anyways, here are some updates on my July appointments:

Cardiology- My cardiologist wants more salt added to my TPN for my low blood pressure and tachycardia.  11 or more grams to be exact!  That's a ton of salt but it's needed for these heart issues.  He spoke with my GI specialist.  Unfortunately, adding that much salt would require a big increase in my IV fluids to balance everything out, but I can't tolerate more than a liter at a time because of my neurogenic bladder.  Soo, my GI specialist is conferring again with my cardiologist to see if I can instead crush salt tablets and flush them through my jejunostomy feeding tube.

Sleep Medicine- July 2nd I had my 4th sleep study.  They put BiPAP on me.  Everything went well until 5 AM that morning when I woke up with horrible stomach pain and distention!  Apparently, I started experiencing something called aerophagia, probably due to a weak esophagus.  BiPAP air went down my esophagus and into my stomach because the valve covering the esophagus didn't close fully.  We are still going to try BiPAP again at home, starting this coming Monday.  Please pray I can tolerate it (there aren't really any other options for my sleep apnea).  My sleep dr. also ordered my 2nd pulmonary function test which was completed yesterday.

Gastroenterology- My blood copper level is still dropping dramatically by the month, even though I'm receiving 6x the normal amount in my TPN.  My GI dr. said this shouldn't be happening.  My ceruloplasmin level (related to copper) is also low.  He's now running more tests and checking for another bad genetic disease.  I hope I don't have it. :(  He also plans to add more dextrose (sugar) to my TPN because I've been dealing with frequent low blood sugars...it dropped to 54 at one time.  I see him again in less than 2 weeks.

Rheumatology- Yesterday my rheumatologist took a very detailed history of all my symptoms to try and get to the bottom of these daily fevers I experience.  He ordered more genetic testing. :(  He wants to see if I have a genetic Periodic Fever Syndrome.

Hematology- Today I saw my hematologist.  If that copper genetic disease comes back negative, he thinks my low copper issues are related to my Mitochondrial DNA Depletion Syndrome.  Copper is vital for proper function of Complex IV in the mitochondrial electron transport chain.  He also ordered more labs to check my red blood cells and make sure I don't have the blood disease that came up on my Whole Exome Sequencing results.

I had to have 8 tubes of blood drawn today..

Physical therapy- Last week, I started up weekly PT visits again.  The muscles in my legs are extremely tight which causes balance issues and exacerbates my muscle weakness.  So my therapist wants to work on these problems and strengthen my core.  The CRPS pain has been flaring up with all of this, so my legs have been aching and burning so much. :(

Phew!  As you can see, a lot has been happening.  But we all continue to press on.  The Lord is sovereign and good! :)  He has been with us every step of the way.

Thank you so much, Mrs. E, for this beautiful bouquet of flowers!  They make me smile, and I look at them often as I spend a lot of time in the living room.  That was so thoughtful of you to think of me since I couldn't partake of your yummy dinner with my family.  Love you! :)