Trekking on.

Hey friends,

Just wanted to share some news---my liver enzymes dropped and are now in the normal range!  My hepatologist thinks I had autoimmune hepatitis which resolved quickly (must be because of all your prayers! :)  Thank you, Lord!!  He really does hear our prayers!  My magnesium level is still not where we would like it to be, but my hepatologist (he's my GI dr. for now until my main GI specialist returns from out of the country) added even more magnesium and 2 different types of potassium to my daily IV fluids which I now receive for 3 hours.

He also called me last week and restarted me on prescription zinc because one of the copper blood tests for Wilson's Disease came back even higher. :(  He explained that high copper in the body compromises liver mitochondria which is not what I need since I already have a mitochondrial depletion.  He plans to talk to a Wilson's expert at Yale and possibly a geneticist in Canada regarding treatment because he's not exactly sure what's the best way to proceed since my case is so complicated.

Sadly, the CRPS pain in both of my hands and feet has flared up a ton, and I'm not sure why.  My feet are swollen and discolored.  It's so painful to even stand or sleep because the bed sheets cause burning pain.  That's how bad CRPS is. :(  My pain dr. is booked out till March, but thankfully, she had a cancellation.  So I now have an appointment scheduled in 2 weeks (it's at 7:30 in the morning!!).  I wish it were even sooner. :/  I took more of my as-needed pain medications to calm the CRPS down, but they worsened my GI dysmotility.  Even super soft food gave me horrible abdominal pain all day. :(

My mom, dad, and I leave for San Diego in exactly 3 weeks!  I'm glad I'll be seeing my mitochondrial specialist---I need to update him on all that's happened!

Picture #1: what it's like to live with mitochondrial disease....these are all my meds and supplements...!

News we didn't want to hear.

Hey friends,

These past two weeks have been super rough....still not feeling well at all. :(  We found out 2 weeks ago that my liver function blood test results quadrupled suddenly which indicates liver damage/inflammation.  The results have improved since then, but one of the liver enzymes is still higher than normal.

I saw my GI specialist last Tuesday, and he expressed that he's worried about down the road.  You never want to hear a doctor tell you that. :(  I've been on IV nutrition for more than a year now, and that definitely doesn't help things liver-wise.  I'm still attempting j-tube feeds, but I can only tolerate 2 teaspoons per hour at the most.

He's not exactly sure what's going on and why my liver suddenly took a turn for the worse...is it from Wilson's Disease....or is it from being on TPN (IV nutrition)....or is this something totally different?

We also found out that my magnesium and potassium levels dropped yet again.  We're not sure why that's happening as well because I continue to receive extra Mg and K in my supplemental IV bag of fluids which is infused through my central line every evening.  Is this liver-related, or is there a problem with my kidneys not being able to hold onto Mg?

There have been lots of questions lately with few answers.  The day after my GI appointment, I saw the hepatologist (liver specialist).  He wants to pursue genetic testing for Wilson's Disease because some specific things related to the diagnosis are puzzling him.  He also ordered lots of lab work to rule out common illnesses and figure out why I'm not feeling normal.  One of the blood tests came back high which indicates that I either have autoimmune hepatitis, chronic active hepatitis, or mononucleosis.  Unfortunately, my GI dr. is currently out of the country for 4 whole weeks, so I'm waiting to hear what the hepatologist thinks about the latest finding.

I wish my GI dr. were here because he knows my situation the best.  At my appointment, he brought a smile to my face when he said he'll be thinking about me on his trip. :)

I'm thankful to the Lord for His mercy and compassion.  He is still God, even when things aren't going well, even when you receive bad test results, even when you don't feel 100%.  He is mighty!!

A rough start to the new year.

All last week, I wasn't feeling my normal and just felt "off."  I kept losing my balance and had nystagmus/dizziness.  This past Saturday, I was feeling so bad with horrible body aches, headache, and nausea, so I ended up going to the ER to make sure I didn't have a central line infection.

The ER docs followed my mitochondrial specialist's ER protocol letter, so I received through my central line a dose of IV carnitine and more than 3 liters of continuous D10 with sodium chloride and potassium.  I also had a ton of labs drawn.  It turns out I was nearing a metabolic alkalosis state (opposite of metabolic acidosis), and I was diagnosed with hypomagnesemia (lower-than-normal levels of magnesium which is an electrolyte).  This happened even though I still receive daily IV fluids with extra magnesium for 2 hours...!

I just had labs drawn with home health 3 days before Saturday which showed some abnormal things, but my magnesium level was fine.  So it dropped quickly.  Hypomagnesemia can be very serious and cause seizures and even cardiac arrest, so my GI dr. is glad I went to the ER to get checked out.

I got admitted to the ER observation unit for 2 nights and received 3 different IV pain medications because the pain was so bad.  I also had to be placed on a continuous cardiac monitor to watch my heart rhythm and high heart rate.  Though short, it was a rough hospital stay---all the IV fluids overwhelmed my neurogenic bladder (and when I'm in a mito crash, body system functions don't work well)...I had to be cathed because I had over 1 liter in my bladder which I couldn't empty. :(  TMI, but mito is no fun. :(

To correct the low magnesium, the doctors gave me 4 grams of IV magnesium.  That brought the levels back up, but they soon dropped again.  So I had another magnesium infusion early Monday morning before I got discharged.

My GI dr. thinks the prescription zinc I was taking 3x a day for Wilson's disease caused my body to get depleted of magnesium.  But, if my MG levels start dropping again while off of zinc, then he said something else is going on..  I had weekly labs drawn yesterday.

This coming Tuesday, I have a monthly follow-up with my GI dr.  Wednesday, I finally see the hepatologist (liver specialist) after waiting 2 long months.  And Thursday, I have an appointment with my neuro-urologist.  It's gonna be busy! :/

I wasn't expecting a hospital stay right at the beginning of the new year, but the bright side is, I went without an ER visit for almost 11 months which is a record! ;)  I'm thankful to the Lord for His protection this past weekend.  My condition could have been a lot worse if my very low MG wasn't corrected!

Reflections on this past year 2015

This year alone, I had a total of:

• 51 doctor appointments
• 21 physical therapy and occupational therapy appointments
• 5 MRIs (brain, cervical spine, thoracic spine, foot, and heart)
• 2 more surgeries (central line placement and liver biopsy) which makes a total of 9 so far
• 2 overnight hospital admissions
• 1 blood clot in my right cephalic vein
• 14 days of blood thinner injections
• 52 home care nurse visits
• 52 central line dressing site changes
• 3 sleep studies which showed worsening sleep apnea
• 1 skin biopsy
• 2 trips to San Diego to see my mitochondrial specialist in January and July
• 2 genetic tests (whole exome sequencing and a periodic fever syndrome panel)
• More than 150 tubes of blood drawn (thankfully, most of the blood draws were through my central line, so I didn't have to get poked for all of them :)
• 5 weeks of IV iron infusions for iron deficiency anemia
• 2 ER visits
• 2 electroencephalograms in June and August
• 1 pulmonary function test
• 1 modified barium swallow study/esophagram which showed esophageal dysmotility
• 2 EKGs
• 2 new medical diagnoses (Mitochondrial DNA Depletion Syndrome and Wilson's Disease)
• 1 jejunostomy feeding tube infection
• 2 multi-organ abdominal ultrasounds and 1 venous duplex ultrasound study
• 4 "24-hour" urine tests to check histamine and copper
• And more than 365 hook-ups to IV nutrition and IV fluids

I look at all these numbers, and I'm humbled by God's grace---I truly couldn't have made it through another hard year without the Lord's help.  He has been my Rock!  I'm reminded of the verse in 2 Corinthians 12---But He said to me, "My grace is sufficient for you, for my power is made perfect in weakness."  I was weak many times this past year, but the Lord made me strong (2 Cor. 12:10).

2016 is upon us...  It's always a little hard when a new year begins because of the unknown, but I know the Lord will give me courage to face whatever comes next!  Plus, He blesses me with such loving and supportive friends and family. :)  Thank you for staying on this journey with me!  I couldn't do this without you!

Happy new year, friends.  May we hold fast to the Lord and trust Him in everything these next 12 months---He is faithful!!

Saw this quote recently and wanted to share.  Perfect as we begin 2016!

Another diagnosis (and hopefully my last..)

Hello friends,

For those who didn't hear, my grandma passed away the day after Thanksgiving.  We had a beautiful service for her this past Saturday.  We all miss her so much. :'(  It sure is different not to have any more grandparents living.

On November 20th, my GI dr. called, and I got diagnosed with Wilson's Disease, also known as hepatolenticular degeneration.  He thought WD very unlikely, but you know me, I'm a puzzle. Wilson's disease is a rare, genetic copper overload disorder where the body lacks or has an abnormal copper transport protein due to two mutations.  This causes copper to build up in high amounts in the brain, eyes, liver, kidneys, and other organs.  The excessive copper causes damage (hepatic and neurological) and even failure of these organs if not diagnosed early enough.

The normal copper content in the liver is 10-35 mcg...my liver biopsy copper result from Mayo was 934 mcg....!  That's extremely high. :(  Also, my liver biopsy histological findings, though mild, are consistent with WD.

My GI dr. referred me to a hepatologist (liver specialist) for input on treatment, but unfortunately, this specific dr. is booked out until January 13th.  I do see my GI dr. this coming Monday, and we'll talk more about everything.

I don't know why I'm the one to end up with all these mutations and rare diseases (especially since, as far as we know, there's no past family history of these genetic disorders), but I won't stop trusting the Lord.  I am in His hands, and I know that the Lord will turn even this into good.

I do hope this is the last piece to the puzzle!  I'm not sure how many more diagnoses I can take.. :/  One of my friends told me I'm an age 18+ 20,000 piece jigsaw puzzle. lol  Mia, you always make me laugh. :)

Wilson's disease is known to cause mitochondrial dysfunction, so my doctors are wondering if this is a separate issue or related to my Mitochondrial DNA Depletion Syndrome.  I will ask my mito specialist when I see him in February. :)

Gratitude...a precious offering.

Hi everyone,

Just wanted to let you know that things medically are going ok with me, but my grandma (my only remaining grandparent) is not doing well at all and is in the last days of her life due to congestive heart failure. :(  It's been so hard to see her decline...the hospice nurse thought maybe she had 1-3 days left, but our grandma is a fighter and is still hanging on even though she has not had food or liquids since last Monday the 16th. :'(  She's in a drugged-up state and cannot talk or swallow, so the liquid morphine has to be rubbed around in her mouth.

I did receive my liver biopsy copper results back from the Mayo clinic last Friday.  My GI dr. called me, and it's not good news.  But I'll share about that another time.

Have a blessed Thanksgiving, friends.  Hold your loved ones close as things can change in the blink of an eye.

Love,
Kerissa