The Fertility Results Are Finally In
Here's the Update on our Genetic Testing and Fertility Analyses
I have been waiting to write this post for weeks! I am so glad we finally have this info:
If you missed it — I wrote about a cheerleading accident from a few years ago and what it might mean for our fertility. The nurse’s reaction when I brought it up at the clinic was... not reassuring. So we’ve been waiting on two sets of results: genetic carrier screening and a full fertility analysis for both of us.
FIRST: Genetic Carrier Screening
This one I wasn’t too worried about, but it’s fascinating science and important for our specific situation.
Ryan during his blood test
Carrier screening is done through a blood test that looks at your DNA for hundreds of inherited conditions (things like cystic fibrosis, spinal muscular atrophy, fragile X syndrome, and many others). Anyone can carry a gene for one of these conditions without it ever affecting you personally. Most carriers have no idea they’re carriers. It only becomes medically relevant when two people who carry the same gene have a child together — at that point there’s a 25% chance the child could actually have the condition.
For us, this matters a lot. Since we're using an egg donor, matching her carrier status against ours is a required part of the process — agencies and clinics won't move forward with a match if both the donor and the intended parent carry the same gene.
My Carrier Results
Turns out, I’m not a carrier for a single thing on the entire panel. Thanks Mom and Dad! I am genetically very boring in the best possible way.
My genetically generous parents who walked me down the wedding aisle
Ryan’s Carrier Results
Ryan came back as a carrier for only one condition. It’s a random late-term disease that primarily affects hearing and the thyroid. That might sound alarming, but really isn’t — it just means we need to confirm our egg donor doesn’t carry that same gene, which is completely standard in the screening process.
One quick filter and we’ll be good!
NEXT: The BIG One… Fertility Analysis
When the results came back I genuinely almost couldn’t open them. We want this so badly — not just the idea of having a kid, but the specific hope that Ryan and I would both have the opportunity to have a biological child of our own. That means a lot to us. So sitting there staring at the notification that our results were ready, I just needed a second before I clicked.
Drumroll….
It was good news! Both of us are fertile!
The cheerleading accident didn’t take me out after all!
Male fertility analysis markers
My Results
My results weren’t perfect... They measure multiple aspects of fertility with the analysis, and most of mine were within normal range. A couple of markers came in right at the lower edge of normal, though — enough that I want to be super intentional about optimizing before we move forward.
That means the next 90+ days will consist of diet adjustments, targeted supplements, sleep, and some supplement changes until the full sperm production cycle turn over. Commence the fertility maximization plan!
Ryan’s Results
Speaking of supplements… For years — years — I have been making fun of the absolutely unhinged number
of supplements Ryan takes every morning. It looks like an apothecary exploded on our kitchen counter each morning. Fish oil, CoQ10, zinc, vitamin D, things I cannot pronounce — all taken in one horrific gulp.
But alas, turns out he’s been onto something…
What Ryan would look like as a bull
I called my dad — who is a rancher — to share the update, and without missing a beat he said “Sounds like Ryan would make a good bull.”
Ew Dad…!
But we had a good laugh and now Ryan gets to be smug and say “I told you so” about his supplements.
Next Steps
Overall the picture is genuinely good. Within normal range across the board, a couple of markers worth paying attention to, and a very clear plan for improving them before we move forward. For 90 days (at least) we’ll be doing the fertility optimization diet, and in the meantime we have that important genetic info to keep in mind as we look through egg donors.
I’m happy!!
And I’ll ask Ryan if he’s available for supplement consultations if anyone’s interested…
I'm so happy for you guys! I was really excited to see you mention Fragile X Syndrome as one of your examples for genetic carriers because most people have never heard of it, including doctors! I have a 27 year old son who was diagnosed with FXS at 3½ years old (September 16, 2002 was a ROUGH day for this mama!) and he is considered "patient zero" for our family because he was the 1st to be diagnosed. I learned about FXS from a women's magazine article BTW and the pediatrician argued with be for 45 minutes just over whether to do the DNA blood test or not. I was so mad when he was transferred elsewhere(military) before the results came back. I really wanted to see his face when it was positive. I was 99.99999999% positive it would be a I have an uncle with all the facial features & a lot of the characteristics. We then had my 6 month old 2nd son tested ("unaffected" a teen i hate because have 2 siblings with any disability absolutely affects you!) & my parents both got tested, though we were sure it came from my dad's side, and we were right. He talked to his parents & siblings who all agreed to get tested. It's X linked so we knew his mom had to be the carrier but then her siblings started testing and at least some of her sisters are NOT carriers, which means she inherited it from her mother. My dad is the only carrier and 1 of his brothers is what's called a "mosaic" which is actually what my oldest is too. They are both a carrier(partial mutation) & full mutation. He been married for decades, had to grown children & a grandchild in the way, but that meant my cousin would be a carrier too so she needed to be informed. My dad & grandparents went to my aunt & uncle's home to give them the news and suggest he be tested. My aunt cried because she said it was such a relief to know what made her husband different. My dad flew with him to Sacramento to see a specialist (1 of THE experts in the world) a couple of times which was helpful for them as they hadn't been able to meet and do research on older adult men who have FXS. (They live our family with all the big families😂) I was worried about whether they would actually test for FXS because they didn't routinely do that 20 years ago. We attempted to do IVF with PGD to have a 3rd child without FXS but that failed. Then 1 month before we were starting our 2nd cycle, I found out I was pregnant. Amniocentesis test to check for FXS, positive, and we donated his cord blood & cord to FXS research (they were giddy) and i was prepared for all the possible complications except the 2 that happened. He couldn't breath well enough due to his heart not pumping strongly enough so he was intubated in the NICU right away. Then less than 48 hours later, in the middle of the nurses' 2am shift change, he came out of sedation & yanked on his tube, partially extubating himself. Freaked everyone out but his numbers all stayed perfect as if he was still intubated so they fully removed the tube & he was great! Low muscle tone is common in FXS and the heart is a muscle so they think it just needed a little help to get going. He came home after a week which is a very short NICU stay & no heart issues after that. He's now 19. I wouldn't change my boys for anything because they're exactly who they're supposed to be but it has been a HARD road & it doesn't really get easier as they age, it just gets hard in different ways. Like my oldest wants "my own place, Mom!" but he can't live independently so he's decided he is too old to have to do chores around the house 🙄 & he's way bigger than me now so I have to try to train with him rather than physically help him to do different things he needs help with or that he's supposed to be doing. We're looking into group homes.
Anyway, thanks for sharing your journey! I'm so excited for you guys! 💗
Please tell us what Ryan all takes?? Curious minds want to know🙏🏻🙏🏻