More Labs and Borrowed Time

Had to get more labs drawn today. I woke up at 5:30am. But I slept like complete crap. So I started off the day just exhausted.

Work had a few early morning issues that I jumped in and helped with until it was time to leave. I printed off the ATM genetic test results before I let, because it was to prove a point to them.

Got to Infectious Disease 5 minutes late, whatever. First I met with Rebecca. Gave her the results. Of course she didn’t understand it, but as I explained it, she started to pay attention. At the end, I told her that this needs to go to Kaufman, and we cannot delay anything anymore. I need Kaufman to link up with Hepworth today and get this Tagged WBC scan figured out. Today, not tomorrow, not next week, today. I expressed to her again, that they need to stay on top of my care. I’m not fucking around anymore.

ATM Genetic test?

Back in 2021, when at Mayo I had a $30k genetic test done that tested SEVERAL genes. The original results came back positive for Ataxia-Telangiectasia. The gene defect was found under the ATM gene. But at the time it was just considered possibly pathogenic.

What does this do?

The ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide. It also plays a role in DNA replication when new cells are created.

So what does all this mean?

This mutation is directly responsible for my immune disorder. The defect they found also will slowly start to delete/forget portions of genes as I get older.

The primary bad part, is this increases my risk of pancreatic cancer to the likelihood of 100%. It’s just a matter of when.

This also explains the chronic infections I’ve dealt with my entire life.

But the borrowed time I have, is that it’s estimated by the age of 60, this mutation will start to delete critical genes I need to live. So most likely this is about as far as I will make it in life. Give or take a few years.

Last week, Invitae updated the result to Pathenogenic. Which means I am not a carrier, this is what I have. More or less a late onset of it. I’ve noticed the red streaks on my face getting worse, as well as the one in the whites of my eyes, and other various places.

I meet with Mayo Clinic Friday to speak with Immunology, the immunologist whom diagnosed my CVID and advocated I start IVIg. So I’m looking forward to talking to him. With the new genetic findings, I need to make sure we are doing what we can from an immune perspective to help my body any way else we can aside from the IVIg and the Xolair Sarid already has me on.

Then in February, on the 7th I have 2 back to back Genetics appointments. I’m sure from this point, I’ll have to find a Gastroenterologist locally to screen my pancreas at least 4 times a year. Since I’m a guy, probably add in prostrate.

I did talk to both my aunt/uncle about the results. I’m sure since my diagnosis changed, Invitae will allow close family members to get tested for free. I just to pass the info to Dr. Schimmenti, then she will reach out to set up the tests. All you do is spit in a cup.

I’ve noticed over the past few months that my walking / balance feels … off. This also could explain why that’s happening.

Not a good day. At the end of the day I just sat here and said “what next?”