Genetics

After much debate George and I decided to have a genetic test done to see if we were carrier for any diseases. It's a weird thing to be able to do because it could potentially change a lot. And sometimes ignorance is bliss. But I'm really glad we did it. It is good information for our families to have as well, especially Mackenzie and our future child/ren.

It only took 2 weeks but we got the results back last Thursday. The great news is that we are carriers of different things so there is almost no chance of having a child with any of these disease. Of course they will never say 100% chance but we will take the odds we have! 

George is a carrier of Biotinidase deficiency & Mucolipidosis IV. Biotinidase deficiency is just a vitamin deficiency that is really treatable with medication so that's good news. Mucolipidosis IV is a break down of fatty acids that causes a metabolic disorder. Although most people with this disorder can live to their 40's they never learn to walk and their mental capacity stays around age 12-18 months (per Counsyl's website). 

I am a carrier of Spinal Muscular Atrophy. This was kind of scary for me because my grandmother died of ALS before my brother and I were born so I was worried that this might mean I have the gene for ALS as well. But per the lady from Counsyl during my phone consultation there are different genes for SMA and ALS so my risk of ALS is not greater than anyone else. 

It's weird because I follow a woman on instagram whose daughter was born with SMA and that's how I first learned about it. It is such a nasty disease so when I found out that I was a carrier for it it was shocking. I am just so glad that George isn't a carrier for it as well. Of course there are no guarantees but the chances of us having a child with SMA are pretty small. But we do know that I am the queen of slim chances! 

We are also going to have the embryos tested for chromosomal abnormalities. We are just trying to get the best possible odds possible for our future transfer. 

Speaking of embryos- we don't have a date yet to do egg retrieval. I have my reconstruction surgery on November 2nd. This is the surgery I was supposed to have like 1.5 years ago but have been pushing off. So I finally scheduled it. This takes priority over egg retrieval and I want to make sure I'm recovered before we start scheduling egg retrieval. 

Truthfully I'm not really looking forward to either. But I am excited to see how many eggs we get this time and how many healthy embryos we can make. It's so interesting that some people get a ton of eggs during retrieval but then only end up with 1 or 2 good embryos or some people get like 7 eggs and almost all become good embryos. We are optimistic that this time we will get a lot more eggs and then end up with good quality embryos!