Another ER visit and more appointment updates.

Hi friends,

This past Monday evening, I started dealing with 100 degree fevers, severe nausea, and headaches.  So my mom called my GI doctor who recommended that we head back to the ER to get blood cultures drawn in case of a line infection.  Can't catch a break, and ER visits always wipe me out. :(  We spent over 8 hours there---the ER was jam packed!  The doctors ordered labs, IV dilaudid, and zofran.  The meds helped a lot.  Thankfully, they couldn't find signs of infection in my blood, although blood cultures do take a couple days to come back.  They came to the conclusion that this was either a virus or the dysautonomia (autonomic nervous system dysfunction) that I deal with on a daily basis---my body could now be having trouble regulating temperature..

We got home after 6 in the morning on Tuesday, so I've been so exhausted!  I did have two appointments yesterday with my surgeon and a new ENT dr.  I had a lot of granulation tissue growing at my j-tube site, so my surgeon used more silver nitrate sticks to burn it off.  The ENT visit went well.  I had a laryngoscopy done---one of the doctors inserted a scope down my nose to look closely at my swallowing muscles and voice box.  My ENT dr. noticed that all the muscles in that area have atrophied a lot, so he thinks this may be what's causing my chronic cough/swallowing issues.  He ordered another modified barium swallow study with x-ray to be done in 3 weeks.

Here is some good news: I am now off both blood thinners!  I'm so thankful. :)  I had a follow up with the anti-coagulation clinic at OHSU on Monday, and the nurse practitioner consulted with one of their hematologists.  They all agree that I've been treated long enough for this type of clot.

I have a lot of upcoming appointments next month with Neuro-urology, Neurology, ENT, and GI..  This week has again been rough, but I strive to keep my eyes fixed on Jesus and not on all these continuing problems.  One day they will end! :)

"Days have come, days have gone
I know one thing’s sure
Hanging on by the words of Your promise, Lord
You are good, You are true
Even in my pain

And I’m thankful for this suffering
‘Cause it’s brought me right here on my knees...."

~partial lyrics from Perfect Love by Jeremy Camp

Never a dull moment.

Hi friends,

Just an update for you!  For those who don't know, I had to go the ER yet again this week. :(  My PICC line site was red, hot, and swollen, and I was experiencing low grade fevers when my home health nurse visited last Thursday and when I saw my GI specialist this past Tuesday.  He feared a line infection and wanted it to get pulled.  So Wednesday I was told to go to the ER.  When the doctors and nurses know you, you've been there too often...... :/  They drew blood cultures and labs to check for infection and ordered an ultrasound to rule out clots in my upper arm.  And guess what----a clot was found in my cephalic vein!  That's one of the complications when you have a central line.  They admitted me overnight in the ER observation unit for IV fluids and potassium because my potassium levels were low.  They also pulled my line and started me on two heavy duty blood-thinners to prevent it from traveling to my lungs and causing more problems.  Yesterday morning, the PICC team came by to place a new line in my left arm.  I was also taught how to give myself anti-coagulant shots twice a day....not pleasant. :(  This certain drug burns horribly!

Today I had a follow-up with my cardiologist.  We discussed my recent heart echo results, and he is going to consult with another cardiologist because they found thickening of my aorta (that was a surprise because it wasn't there on my two previous echos!).  Also, they found a mobile mass in my right atrium, but he thinks this is congenital and shouldn't cause problems.  Still, that was another surprise since it wasn't found there before!  I am a puzzle, and I keep my doctors on their toes. lol ;)  My cardiologist is also going to get in touch with my GI specialist next week to see if more sodium can be added to my TPN because my high heart rates, dizziness, and heart fluttering has been getting worse.

Monday I have an appointment at the anti-coagulation clinic to get labs drawn and see the doctor there.  And Wednesday, I have surgery to get a central line placed in my chest!  They wanted to do this soon to prevent a clot from happening again.....but who knows, I'm not the typical patient. ;)

It's been crazy hectic, and my arm where the clot is still doesn't feel well yet.  But I continue to trust the Lord and persevere!  He is good.

Thank you all for your love and prayers!

P.S. A famous mito specialist from Ohio came to speak at OHSU the same evening I was in the ER.....the ER docs were so kind to let me go to it since the lecture was literally just down the hall! :)  It was very informative.  I was able to ask the mito specialist about my mtDNA depletion results.  He looked over the report and told me that my depletion is 99% which is very high....no wonder my GI tract is so affected. :(  I really hope these results and the ones pending will help me be eligible for a future clinical trial!

My new PICC line right after it got placed :)

More Results.

Hey everyone,

As I mentioned in my previous post, my mito specialist wanted to check for mitochondrial DNA depletion.....well, those results are back.

And guess what---the results do show that I have a mtDNA depletion!

It's not very good news because this means something is depleting the number of mitochondria in my body, and all organs/cells need a normal amount of mitochondria to function well.  I wasn't expecting these results at all, but I am still so thankful to the Lord for more answers to all my numerous conditions/symptoms.  This depletion may be why my GI tract in particular is in such bad shape and why I can't tolerate j-tube feeds and solid food.

Since this genetic test came back abnormal, my mito specialist is currently going to hold off on the fibroblast super complex assembly testing and electron transport assays analysis.  He wants to see if the whole exome sequencing will pinpoint which gene mutation is causing the mtDNA depletion.

Speaking of whole exome sequencing, it looks like the test will be started next week!  A national phlebotomy service is coming to our house this coming Monday to draw my blood (my mom's as well) to send off to the lab.

On Tuesday, I have a follow-up with my neuro-ophthalmologist to once again check my optic nerves and make sure the external ophthalmoplegia in my left eye is stable.

Wednesday, I have another appointment with the pain team at OHSU, and Thursday, the home health nurse will be coming again to change my PICC line dressing.

The following week, I have my 4 scheduled MRIs (brain, cervical spine, thoracic spine, and right foot)....I have to spend over 4 hours in the MRI tube. :/

I also have follow-ups with my GI specialist and Cardiology, so it will be a busy next couple of weeks.

Anyways, I just wanted to check in and and share these results with all of you!

Kerissa

P.S.  Here are some pictures that I took of San Diego. :)

Beautiful Seaport Village

Taken from the plane when we were heading home

So neat seeing how close San Diego is to the ocean!

Another view of San Diego

Mito appointment update 1/20/2015

Hi, everyone!

Well, the appointment with my mito specialist is finished.  Lots of things to process now, but here's the rundown:

1. My dr. agrees and notices that I'm getting worse medically..  It's only been 6 months since I last saw him, and he already sees a difference.

2. As I mentioned in the past, more than one thing is going on...the mitochondrial cytopathy (which affects all the cells in my body....this is not just a muscle disease) and spinal cord/nervous system abnormalities---worsening left sided weakness, foot drop, and something called "mirroring" which is not good at all.  Basically, when I grip or squeeze my right hand, my left hand does the same thing and mirrors my right hand...it's not nice and pretty creepy. :/  In children, this can be normal because their brain is still developing, but since I'm 22, something's wrong and my brain is not suppressing this "action."  This indicates a decline in my brain/spinal cord function.  He ordered more brain/upper spine MRIs to again check that everything is fine structurally.  Hopefully I can get those done with the pending foot/ankle scan.

3. Regarding results, one mutation found in my muscle (and blood) keeps coming up.  So my dr. is zero-ing in on this because it has never been found before in genetics.  What's puzzling, tho,' is that my mom has it in her blood and she's asymptomatic.  So, this may or may not be "it."  He's ordering more tests to check the number of mitochondria that I have (to rule out mitochondrial depletion disease).  He's also sending in my skin fibroblasts that were biopsied in June to analyze my mitochondrial super complexes.  That biochemical test he wanted done to check electron transport assays is still pending in New York....what's worse is, it may not have even been started yet...they're looking into this now. :(

4. At my last appointment with him, he mentioned that we may need to resort to Whole Exome Sequencing which looks at over 30,000 genes (2% of my DNA...!).  He is going ahead and ordering that test....it takes approximately 24 weeks to be completed....ugh. :(

5. I can't stress this enough---mitochondrial medicine is soo complex.  Mito can be caused by the structure of the mitochondria....it can be caused by the function of mitochondria....that's why doctors have to look at the biochemical side of mitochondrial disease, they have to look at the electron transport chain and the five complexes, they have to figure out if it's primary versus secondary mitochondrial disease (secondary is caused by genes outside of the mitochondria that affect mitochondria!), and the list goes on.  Complicated, right? :/

6.  You probably want to know about treatment. :)  Well, all potential drugs are still undergoing FDA approval or going through Phase 1 or 2 trials.  Soo, that will be a while before I can possibly go through one.  In the meantime, my mito specialist is adding more supplements to my "mito cocktail."  He also wants me to take creatine, and I really pray that can help my energy level because I've been needing to sleep 15-18 hours a day lately!

I hope I answered any questions you may have! :)  Thank you for taking the time to read through all this.  Also, I haven't been able to reply to some of your emails yet, but I just want you to know that I'm so grateful for your prayers!

Next month, I have a lot of follow-ups with GI, neuro-ophthalmology, cardiology, etc.  Plus, I have to get all those pending MRIs done.

I thank God for all of you who are on this journey with me! :)

Kerissa

Adjusting to TPN

Hey everyone!

My GI appointment on the 5th went well. :)  As my GI stated, TPN is a blessing and curse.  The abdominal pain, distention, and nausea has been nothing like before, and I'm so grateful to the Lord!

Oral eating is recreational now rather than a necessity, so my small intestine has been getting better rest than before.  But, I still have hypoactive abdominal sounds which is not very good.  Also, as I mentioned in the past, we always have to be on the watch for infection since my PICC line goes towards my heart.

1 1/2 liters of TPN fluids and lipids every 12 hours has been hard on my neurogenic bladder, but aside from that, I've been tolerating TPN well. :)

Every single time I shower, I have to cover my arm in saran wrap and tape!

All the TPN and lipids that get delivered weekly...they have to be refrigerated.

  
Haven't noticed any extra energy still, and I've been sleeping even more---TPN can destroy red blood cells, and some of my blood counts have been lower than normal which could explain the worsening fatigue, so my GI is watching that.

I saw the pain team on the 6th for the CRPS around the PICC line area.  The slightest touch caused so much nerve pain in my arm!  So my pain dr. added yet another oral pain medication and ointment to my list of meds.  They have helped a lot! :)  It is a win/lose situation, though, because pain medications make GI motility worse.. :/

This past Tuesday, I had physical therapy, and yesterday was a follow-up with my PCP.  She is referring me to ENT for my lingering cough/swallowing issues.  Today, I saw an orthopaedic foot dr. regarding the lymphangioma (vascular tumor) that was in my right foot back in 2010.  He ordered an ankle/foot MRI with and without contrast to check for/exclude recurring tumor.  This will be done after my parents and I get back from San Diego.

Speaking of San Diego, it's finally here!  I have a follow-up with my mitochondrial specialist to go over all the results/tests on January 20th.  My parents and I leave on Monday the 19th and come home on Thursday the 22nd---a quick trip!  Please pray that the dr. will have wisdom and insight regarding all the results.  My case is very complicated, and more than one thing is going on which makes things so tricky....I won't be surprised if he has to order more genetic testing.. :(

Thank you all for your faithful prayers!

Kerissa

A New Year.

Happy new year, everyone!! :)  I'm sorry I never wrote my usual last-day-of-the-year "reflections" post.  I was admitted to the hospital the day after Christmas and got discharged this past Tuesday, so I didn't quite feel up to blogging.

The jejunostomy tube feeds trial failed on Saturday---I have very slow small intestinal motility and hypoactive abdominal sounds. :(  It causes terrible abdominal pain, distention, and nausea.  The IV team came by Sunday to place a PICC line (peripherally inserted central catheter) in my upper right arm.  And Sunday night, the doctors started TPN (IV nutrition) very slowly to bypass my GI tract.

Once I got home, 3 different TPN nurses from home health came by Tuesday, Wednesday, and Friday to teach me and my mom how to administer and hook up to TPN.  They also drew blood work (which my GI specialist wants completed weekly) to monitor all my electrolytes, triglycerides, etc.  I also got my PICC line dressing changed twice---a nurse will be coming once a week to do this as well.

The CRPS has been flaring up a ton in my right arm from all the trauma. :(  Dressing changes are so painful with all the tape removal, etc!  So my pain dr. will be squeezing me in soon to try and figure out what to do about this.  I can't use my arm well, and the slightest touch causes severe nerve pain. :(

TPN initiation has been a big step.  I see my GI specialist this Monday to go over everything and discuss continued tube feeds trials as it's not good to stay on TPN long-term.  And for the first time ever, the hospitalist gave me and my family a serious talk about disease progression, prognosis, and how I need to get my PCP more involved because of all these changes.  It was different hearing that for the first time..

Yes, I have been and will be facing a lot of unknowns in the future, but the Lord is Sovereign!  Since 2010, each year has been getting more and more difficult as you can see, but that's the beauty of a NEW YEAR. :)  I look back on the previous year, and it always gives me so much hope, knowing that a gracious and faithful God will continue to carry me and my family through these ongoing challenges and trials.

It's already 3 days into 2015! :)  I've shared this before because it's my favorite verse!  "...it is my eager expectation and hope that I will not be at all ashamed, but that with full courage now as always Christ will be honored in my body, whether by life or by death.  For to me to live is Christ, and to die is gain "(Philippians 1:20-21).