The Odds are Even

I had a missed call on my phone while I was at work yesterday, which I frustratingly didn’t see until after the Fertility Associates clinic would have been closed for the day. The specialist left a message saying they had our results (already!), and after some back and forth I was finally able to speak to them this afternoon. Of the four embryos biopsied, two were affected by the SCA3 gene, and two were unaffected. A textbook 50% transmission rate! We are super happy that we have two healthy, unaffected embryos so that we can have one implanted and one in reserve. It’s also great that the results were clear and that none came back inconclusive, as that could have required further testing and more agonising waiting. Both of the unaffected embryos were ones that were graded AB, so are also two of the higher quality embryos.

Autosomal dominant conditions like SCA3 mean each embryo has a 50% chance of inheriting the gene.

So within the next couple of weeks, I am to arrange with my GP to have my IUCD taken out some time before my next cycle starts. We will be using a ‘manufactured cycle’ to prepare my body for implantation, which means I will be taking more hormone medications to simulate what my body would be doing naturally had we conceived the conventional way. I am to call the clinic on my day 1, and they will advise me to start taking Progynova (estradiol (E2)) tablets. E2 is the main estrogen hormone usually released by developing follicles, and one of its purposes is growing the endometrium (uterine lining), which is what I’ll be taking it for. Fertility Associates will also make me an appointment for approximately 10 days later for a scan and blood test in Nelson to check my body’s response to the Progynova. They will also dispense Utrogestan (progestone (P4)) vaginal pessaries. This is another hormone normally made by a follicle once it has secreted its egg, and maintains the endometrium so that the embryo can implant and cause a pregnancy. An appointment will be made for approximately six days after the scan and blood test at the Christchurch clinic for an embryo to be implanted. Two weeks later I will have a blood test to see if the implantation has successfully resulted in pregnancy. From there, if I’m pregnant the risk factors will be roughly the same as a naturally conceived pregnancy, and so hopefully everything will progress normally from there. 

This is all starting to feel very real!