The Results


We both went in on June 13, 2022, for our karyotype (or, as Nick says, carrot top) tests. The test info on Kaiser’s website said it can take 1-2 weeks to get results. The phlebotomist who drew my blood said results could be in later that week. 

As of June 27, 2022, I hadn’t seen results, and I was starting to get worried. 

Read more: The Results

I called to check, and they said 1-2 weeks is accurate, and my test showed as processing. 

I checked on Nick’s results later that afternoon, and there it was: “New Test Result.” I clicked on the test, and saw “Abnormal Karyotype” followed by a random string of numbers and letters that were mostly Greek to me:

45, XY, t(8;11)(q22.3;q21), der(13;14)(q10;q10). 

I know enough to know there should be 46 chromosomes and that XY is male and XX is female, but that’s about the extent of my knowledge of chromosomes. 

I tried to learn more by Googling the results, but that’s a rabbit hole I don’t recommend going down. Nick also tried Googling the results and, for a while, thought he had every horrible syndrome mentioned. 

Funny side note: For a while, he was convinced he had Turner syndrome, but that is when a woman has 45 chromosomes and is missing one of her Xs. I assured him that even though I’m not a doctor, I was 100% certain he didn’t have Turner syndrome…

I did at least learn enough in my research to decipher the “code” meant there’s a translocation on or between chromosomes 8 and 11, and the q numbers refer to the location on those chromosomes where the translocation happened. The second part refers to a “derived” translocation on chromosomes 13 and 14, and the q numbers show the location. 

At least I think that’s what it says…

I found out how to read it, but I still had absolutely no idea what it meant. But I did find it interesting that two of our embryos had abnormalities on chromosomes 8 and 11, and Nick does, too. 

I sent the results to Dr. G., and she recommended we meet with a genetic counselor. “We need to gather more information before deciding if a second cycle is an option or not,” she said.

After that, I reached out to Nick’s doctor to see if Kaiser offers genetic counseling and if we could get a referral. 

The doc provided a phone number, and I called that afternoon. 

At first, the receptionist thought I’d called the wrong office:

_________

Me: Hi, I’d like to make an appointment for my husband.

Receptionist: Are you sure? This is pre-natal medicine.

Me: This is the number my husband’s doctor gave me. We need to see a genetic counselor?

Receptionist: Oh yes, this is for Nicholas?

Me: Yes.

_________

Well, I’m glad we cleared that up…


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