1 Year 1 Month

Dan and I have started the process of trying for baby Gorman #2. Because of my PCOS (polycystic ovary syndrome) Dan and I have to go through the whole fertility process again. That means IUI's (intrauterine inseminations) for however many months until we get those sweet words, "You're pregnant!" As for now though, before we can start that time consuming bit of our (but really mine) lives, I had some genetic testing done. This is something my fertility doctor is doing with all of his patients now. I was not tested 2 years ago when we started this process to get pregnant with Lily. 

Well, it turns out that I am the carrier of 2 rare genetic diseases. Of course, what else is new? It has to be rare if it's for me! Anyway, the 2 diseases are: Segawa Syndrome and Smith-Lemli-Opitz Syndrome. Both are not so good. You definitely do not want to have a child with these diseases. Because I am a carrier I am not affected by these diseases I just carry the gene for them (thanks Mom or Dad - they are inherited genes). This means that if Dan happens to be a carrier of one or both of them there is a 1 in 4 chance of passing the actual disease onto our baby. Fantastic! NOT!!! 

Smith-Lemli-Optz Syndrome has an autosomal recessive pattern of inheritance (1 in 4 children can potentially get the disease). I'm not sure about Segawa Syndrome but I think I remember my doctor said they both were.

So now Dan needs to be tested for them as well. He did a spit test last night (Thursday) and I'm mailing it off today. Yes, a spit test. I almost threw up at the sound of him spitting into this tube. It was gross but needed to be done. There is a 2 week wait now to get his results. In the meantime, we cannot start our IUI process until we know his outcome. 

There are 2 outcomes here (duh). The first is that he is not a carrier of the diseases. Great! No problem, we can start for baby #2 without giving it a second thought. The second outcome, he is a carrier of one or both of them. Shit! This means that we can still try for baby #2 but it will be a different process now. 50% of my eggs are also carriers of these diseases. Fortunately my doctor will be able to tell which ones are by testing them. Once he finds the ones that have the genetic marker for the disease(s), he will separate them and remove them before inseminating me. Sounds high tech and hopefully if that is what we need to do it will be covered under our insurance. BUT, with luck this will not be something we have to do. Dan hopefully is not a carrier of any of these 2 diseases. Fingers crossed!!!

This does not only affect me now, but possibly my brother and 2 sisters. Because I'm a carrier it's possible that they are too. My doctor strongly advised me to let them know to get tested before trying to have a baby. The genetic testing is really expensive - $5,000 without insurance! Yes, that is 3 zeros. If you do have insurance it would be no more than $100 if anything. Crazy! I sent an email to my sibs last night to let them know. 

How does this affect Lily? Well, as of right now, I don't see anything to be concerned about. She doesn't show any signs of the diseases and hopefully Dan's results come back negative  and we can really have a sigh of relief. This does however affect her when she wants to have a baby. She is eventually going to need to have this genetic testing done to see if she inherited the carrier genes. UGH!

Anyway. That's what's going on this week. 

On a lighter note, Lily is now going up to me and Dan and giving us hugs. Only our legs though. Hopefully she works her way up into our arms soon. That will be an awesome moment! 

We have been doing a nightly routine now right before we put Lily down for the night. I change her diaper, with Dan's help. Then I pick Lily up and we have a group hug. Lily LOVES that part!! Then Dan and I kiss to show Lily how to (just a peck on the lips guys - rated G only!!) and then she goes in to kiss Dan then me. We tell her we love her and into bed she goes. I hope that lasts forever. Even when she's 20!

 

Lily's first big snow storm experience - NEMO!!

 Lily's first snow angel!