Infertility Part 15: Final Diagnosis

Previous: Infertility Part 14: Money Stress

As I wrote in Infertility #12: Urologist, I had already seen a regular urologist for an initial referral, a physical exam, and then a test called a Karyotype.

With the Karyotype, I had my genetics tested to see if I was possibly born with an additional chromosome or if any had odd shapes or sizes, or possibly if I was missing any whole chromosomes. It also would diagnose something like Kleinfelter syndrome.

This test took about 10 weeks for the results to come back which just felt like it was taking absolutely forever, especially since as I wrote in Infertility Part 13: Fertility Clinic!, our fertility clinic was waiting for these results in order to figure out what the next step would be.

The results came in negative, which left me confused and uncertain what would happen next. It also left me frustrated that I still didn’t have a diagnosis for what was wrong with me.

Once I had this non-answer, we were at least able to talk to the fertility doctor again, who got me an appointment with a Reproductive Urologist. This wait for this appointment took another 11 weeks.

When I spoke to this doctor for the first time, he told me that me having a biological child was his third goal. He told me that his goals were as follows:

1. To look after my own health first.
2. To find out if this would be something that could be passed down to a biological child.
3. To help figure out if there’s a way for me to have a biological child at all.

He then took time to explain to me what he could see from all my previous tests, something that had actually not happened until now. I was 14 months into my diagnosis and this was literally the first time that a doctor was taking time to explain all of my test results together as a full package. Not because the previous doctors were bad in any way, but I believe it’s because this reproductive urologist is much more specialized and he had the benefit of looking at all of my test results that had come from 3 different doctors before him.

He explained that he could tell my brain is producing the correct chemical to send a signal to my body to produce sperm. In fact my brain knows that something is wrong, because it is regularly producing an increased amount of LH (Luteinizing Hormone) in order to try and force my body to produce sperm. He explained that somewhere in the process, something was stopping the sperm from being produced. Occasionally this is a blockage, but that had already been ruled out previously (and he ruled it out a second time when I met with him in person).

The final step in this process (for me) was to have my genetics tested for a s second time, this time with a Y-Microdeletion test. This one checked to see if there was something missing within my Y chromosome specifically. If diagnosed with something from this test, it would finally give me an answer for why my body is not producing sperm.

It took another 9 weeks to get the results of the test, and that was only because I also had a physical exam with him as well, and he called to expedite the results so that he would have them when he saw me. This was the first time something had been expedited at all, and I really appreciated that I didn’t have to keep waiting after yet another appointment.

The Y-Microdeletion was negative.

So what does this mean? Well basically it means that my final diagnosis is that my body never actually began to develop sperm for unknown reasons. It just sorta is what it is and I am incapable of producing a biological child. You’d think this might make me frustrated or sad or confused, but oddly it did the opposite for me.

This means I didn’t do it to myself. It had nothing to do with weight and there’s nothing I could have done 8 years ago when I first wondered about my fertility status. In fact, he told me that I have been this way since birth. There’s nothing wrong with my genetics in a disease/syndrome/long term health problem sort of way. I just….pulled the short straw.

Honestly it’s not so bad. I’m reasonably happy to have these results and know that there’s nothing I could have changed. I no longer have to wonder “What if” about this element of my life.

I also don’t need to entertain the possibility of surgery, which is something that many men go through for a variety of reasons. Not needing surgery and having no long term health defects to worry about are both wonderful things in my eyes.

From my first appointment with my family doctor to my final appointment with the specialist, it took 16 months for me to be solidly diagnosed.

But…getting this diagnosis also meant that we could finally move forward with the process of getting donor sperm.

Next: Infertility Part 16: Getting Ready

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