Stanford did a new echocardiogram and an EKG. The echo showed my heart had not improved and the EF is still around 18%. The report from my St. Jude ICD had the St. Jude technician and Dr. Fowler wondering if I might be a candidate for a 3-lead ICD, rather than the 2-lead one I have. But the EKG confirmed that the 2-lead model is the appropriate one for me at this time. That may change in the future, but all is good in that department for now. But after doing the tests and complete exam, Dr. Fowler said to me, "You must not be feeling like doing much of anything right now." Boy, did he hit the nail on the head. I had been waiting for a question as to why I was not being more active, but was worrying needlessly. So Dr. Fowler changed some meds up a bit. He said I was still carrying around way too much fluid from the heart failure, so increased my diuretics significantly for the weekend. Then on Monday he dropped the evening dose slightly going forward. He also added Digoxin and changed the dose on my blood pressure medication.
And amazingly enough, I dropped 8+ lbs of water weight from Friday morning until Monday morning. That was how much fluid I was retaining. And why I was coughing a lot (fluid in my lungs), had difficulty laying down at night without an additional pillow, struggled to climb stairs, etc. All that improved significantly right away over the weekend.
I am having labwork done every Monday for now, to be sure that the change in medication doesn't cause other imbalances in other organs, such as kidneys and such. And so far so good.
So I am pleased with the additional weight loss. Not that this is any way I would encourage someone to lose weight. But if there is a positive side to this illness, at least I am getting rid of excess weight and my heart is having an easier time of it as a result.
A very much anticipated appointment we had at Stanford that same day was with the geneticist. She had the results from the genetic testing that was done back in September at Stanford. I wish it had been more definitive, but it was not.
Genetic testing did find three variants that might be the cause of my, and some of my siblings, Dilated Cardiomyopathy (DCM), or might be normal genetic differences that don't cause health problems. For those that understand this stuff, or want more detail, the technical name for these variants are p.Pro24060ThrfsX9 in the TTN gene; p.Ala2294Gly in the DSP gene and p.Glu1127Gly in the RYR2 gene. The variant in TTN is a truncating variant, meaning that it is thought to shorten or eliminate the protein product of the gene. However, the TTN gene is the largest gene in the body and these types of truncating variants in the TTN gene have been reported in up to 3% of healthy control individuals, so it is unclear whether these types of variants in TTN actually lead to cardiomyopathy. This particular variant in the TTN gene has never been seen before, either in people with DCM or people without DCM.
This happens fairly often. Many of the genetic variants that cause DCM and many of the normal genetic variants that don't affect health are unique to a person or family and have not been seen in other people.
The variants in the RYR2 gene and the DSP gene may or may not contribute to cardiomyopathy. There is not enough information available about these variants to know if they cause DCM or they are normal genetic differences that don't cause DCM. We all have many normal genetic differences that are unique to our family and don't affect our health. It's possible that one or both of these variants are what caused our DCM or that our DCM was instead caused by a variant not found with this test.
In about 15-20% of cases of DCM, current genetic tests can't find the variant causing someone's DCM. So it is very possible that our DCM was caused by another variant that this testing could not find.
So at this point, we do not do anything different. Basically, the genetic test could not find anything definitive related to our DCM. But we have all seen cardiologists and are doing what is recommended in preventative testing and such.
So that is the latest. I am 12 days out from the appointment at Stanford and changes in medication that took place at that time. I continue to feel much better, and took a nice walk with a dear friend this morning. Our walking pace during the 1.5 mile walk at Eldridge, near the Jr. Farm, was an amazing 19:43 min/mile. I did need a nap when I returned home, but who cares. I'm just thrilled to be feeling up to walking at a pace that a friend might care to walk with me; instead of hobbling along, gasping for air and looking like I might pass out at any moment.