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.
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.
