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. :)