“Hear my cry, O God; listen to my prayer. From the ends of the earth I call to you, I call as my heart grows faint; lead me to the rock that is higher than I.-Psalms 61:1-2
It’s another sleepless night, between my mind and the pain in my legs that I just want to cut them off. I know God is here, I want so much to be a light in this whole Amyloidosis walk, I want so much to have strong faith and not worry, yet here I am. I had my appointment with Dr. Judge today, and was ok after the visit but my sister came and it all didn’t sink in, and I didn’t get a chance to read his notes until I went to bed, and my mind is just repeating somethings.
She has a TTR gene variant that has terrible prognosis, and requires treatment.–all my mind see’s is terrible prognosis. I know this already so why seeing it in writing just does something to me.
Although the TcPYP scan is read as normal, the ratio is abnormal. This is probably borderline, hopefully only early amyloid in her heart.–this whole time I was thinking that my heart was clean, but after talking with him and his notes, its borderline with early amyloid in my heart. And all I see is my dad’s walk, I hear the dr say there is nothing they can do it reached the heart. (Which was totally unfair to say there was nothing they could of done at all, my dr and my sisters dr both say there was no treatment for my dad at that time, the trials didnt start till 2012) So the rational side of my knows this, but I see this written down, and a part of me goes dark.
Ms Adams is appropriately concerned that she will have progressive disease, like her father. She has several of his manifestations already, including familial amyloid polyneuropathy. I reassured her that new therapies should slow or prevent that. The traditional approach of liver transplant in this context (because TTR is produced by the liver) has failed repeatedly with this particular gene abnormality, and its use is discouraged in this context. –Seems encouraging right, but my mind focuses on my concern is appropriate and that the treatment should work. I also had hopes that a liver transplant would work, but as said above with the mutation I have it doesn’t.
We discussed the new or emerging therapies for TTR amyloid. These include tafamidis, patisiran, inotersen, and AG10. After further review and lots of discussion with her, I’m concerned about the steroids that are required for patisiran. That therapy also requires 3-weekly visits to an infusion center, and the COVID19 pandemic makes that challenging. I think that inotersen would be better for her.–The first one was the infusion and we are no longer going with that one because of the above reasons. The inotersen is a weekly injection I can give myself (the first one will be done in Charleston) I will have to go for weekly blood test, and biweekly urine tests for the rest of my life, or until a better treatment comes along (there are 8 or so in studies right now). Its a special pharmacy that sends them to you, and I will be contacting the pharmacy company tomorrow to see about assistance. The cost is 470,000 a year! He said that insurance will fight it, but thats why he is assigning a person to work on that. So once that is approved we start.
Diagnoses for this visit:
1.Chronic diastolic heart failure
2.Heterozygous mutation of TTR gene p.Thr80Ala (aka Thr60Ala)
3.Familial amyloid polyneuropathy, Thr60Ala
I think seeing this written down, made it so very real for me. Having a active treatment set in place has moved it from possible to real. Its hard to explain, I knew it was there, but maybe some magic test would come in and say it wasn’t Amyloidosis but something else, but here we are. And here we are at 3 am, looking up the life expectancy of diastolic heart failure, why why do I do his to myself?
I know God can do anything, I know He can take Amyloidosis away, I know He can do a miracle in my life, so why do I look the other way?
God I need my faith rock solid, I need to be reminded that you are here, you are already with the treatment, you are already setting up a path for payment to be made for it, God you know my end, remind me that I dont need to worry about that—🎼the hour is dark..and it’s hard to see…what you are doing….here in the ruins….and where this will lead……..believing gets hard….when options are few…..when I can’t see what you are doing……I knw you are proving you are the God that comes through………Oh Oh Oh MY GOD DID NOT FAIL…..oh oh oh it’s the story I’ll tell…….Oh Oh Oh I know it is well…..🎼
Prayers are appreciated if your still reading with me……God is already there is what I need to keep telling myself….Hear my cry God!