It's Genetic But We Can't Find the Genes

 

With regards to the familial hyperaldosteronism, you may recall I had some confusion on what I was told about it. Here's why...it is familial, it is inherited BUT none of the known genes popped on the various genetics tests they ran across my family.

It is beyond odd. The geneticist is very puzzled.

Here's my conundrum...

The pattern of hyperaldosteronism that runs in my family is one that appears to involve brain aneurysms.

There is a known mutation for this, but none of us came up positive for it.

Meaning, I won't have access to preventative care.

Maybe the aneurysm isn't related. That's the hope I have to hang my hat on.

The geneticist says that as the science evolves they may find the genes causing so many of us to have hyperaldosteronism. 

So yes, it is genetic. But we don't know the genes. 

I'm not the only patient like this out there, either. It does happen with hyperaldosteronism apparently. 

This is a great example of how far genetics has to go. They can see it's inherited. They can test across the family. And yet still come up empty. That's a pretty big blind spot in the science.

My main thing is accessing appropriate care. That's all. But I can't without any clarity on the genes. So I'm screwed. And so is my kid if they inherit this from me.

In more positive news...I'm feeling a lot better overall. I think some of the covid stuff has improved. I have much more normal energy levels. I'm sleeping pretty well. Breathing is good. Last night was a bit meh. I still have spine issues and despite the weight loss, they come and go and tend to be worse when I lay down. Pain and numbness and tingling flared last night. PT exercises help, but I suspect at some point, I will need a fusion. 

(Degenerative spine stuff is also something that runs in my family. I had hoped to not have it, but I'm also--oddly--one of the tallest people in my family--even among the men--with some congenital spine abnormalities so I was probably doomed from the start lol sob. )