Tomorrow...

I can't believe that after 12 years of wondering, agonizing, and planning together, we might finally get the SCA3 test results tomorrow. I say *might* because this process has involved so much waiting, it's hard for me to imagine there won't be further delays. So it's possible that after all my melodramatic pontificating, tomorrow will be just another day. But if it's not, I'm hoping for the best and preparing for worst. So here are a few of our next steps as preparation if things don't go as hoped for:

- Ask the genetic counselor for a retest with another lab to confirm the results.
- Provide the results to the endocrinologist and genetic counselor so that the genetic probe can get set up. I'm still not 100% sure how I feel about IVF but I can at least get the process kicked off while I think about it.
- Adjust our health, life, and long term insurance policies accordingly.
- Start house hunting for a home without stairs for easy accessibility. Ideally, we'd like a ranch style home but that comes at a huge premium in the Bay Area so we'll have to see what we can manage.
- Pray for peace, hope, and understanding to maintain our spiritual grounding and mental sanity.

Jeff worries that our communication might break down and I'll shut him out. When we had our first serious talk about SCA3 as college juniors, I struggled with what I should tell him and what I should keep to myself. I was afraid that whatever I said might compel him to get tested for all the wrong reasons. I desperately wanted to know if he had SCA3 but I didn't want him to get tested and possibly ruin his life if he couldn't handle the results. There was a one hour train ride where we sat in silence because I couldn't trust myself to say the right thing. The memory of that train ride still haunts him. I had to remind him that I wasn't shutting him out, I was demonstrating a tremendous amount of maturity for a 20 year old under a lot of pressure!

It's hard to imagine that after tomorrow, our lives could be changed forever. I wish it didn't feel so binary - that it has to either be great news or terrible news. There is no in-between. It feels like my heart is about to burst from all the suspense of waiting. Hoping that it doesn't drop, break, and shatter from bad news. Feeling too scared to anticipate good news. I don't know if I will be ready to talk about it right away. We'll just have to take it one day at a time.

Woolamai Beach, Australia, 2011

I normally post random travel pictures to accompany these serious blog posts but this one is oddly appropriate. It seems like Jeff is facing the great big unknown all by himself but it doesn't mean he's alone - I'm behind the camera taking this picture. And I've got his back.

IVF, PGD...OMG so many TLAs!

Jeff and I always knew that if we were to have kids, we would do everything we could to minimize/eliminate the risk of them inheriting SCA3. I most likely won't outlive my hypothetical children and the possibility of them having this debilitating condition without anyone to take care of them just breaks my heart. From Jeff's perspective, he knows how much of a burden it can be to carry this dark cloud around and he wouldn't want to pass that on.

With that in mind, we scheduled consults with a reproductive endocrinologist (RE) and a genetic counselor earlier this year. Even though we still weren't sure if we wanted kids, we wanted to understand the options. Fertility treatments can be difficult on a woman's body and I'm not sure how much I'm willing to go through for children. Sometimes I feel like that means I don't deserve to be a mother but that's probably another conversation for another day.

The RE suggested that Jeff get tested for SCA3 because if he didn't have it, we wouldn't have to go through treatment and genetic analysis. While this is probably the most logical,straightforward option, this one has been really hard for Jeff and I to wrap our heads around. Like I explained in this post, we want to live our lives without an SCA3 diagnosis looming over our heads. But we also realize that if Jeff has the condition, he is likely to start seeing symptoms in his early 40s, based on family history. It would be one thing if we could live carefree for another 20-30 years - but based on his current age, it might just be another 7-10 years. If that's the case, we may have to get a lot more serious about future planning (with or without kids). So maybe it wouldn't be such a bad idea to get tested now.

If the results came back positive for an SCA3 diagnosis, our RE said that IVF coupled with PGD (preimplantation genetic diagnosis) can virtually eliminate the risk of having children with SCA3. The first step would be to get Jeff's DNA to set up the genetic probe to test the embryos against - this can take 3-6 months. Once this step is complete, then we would start the IVF process. I would get injections to stimulate egg production for 7-12 days, during which there would be daily 30-minute appointments with the RE to monitor egg development. Once the eggs were ready, they would be combined with Jeff's sperm to create embryos. The embryos would be screened either day 3 or day 5, depending on how they develop. Later is better but not always feasible.

We asked the RE if it was possible to do blind PGD so that we wouldn't need to find out if Jeff had SCA3. She seemed to think this was a strange request and said it wouldn't make sense to do it blind. However, our genetic counselor spoke with our RE and confirmed it was doable. I'm not sure how much information they share when conducting blind PGD. Would you know how many eggs you started out with? Would you know how many embryos made it to day 3/5 for screening? All that speculation and guessing would probably drive me crazy, I'd probably just want to know. But then again, maybe not?

After all that fact finding and discovery, I became terrified of the idea of having a child. IVF is incredibly hard for a woman to endure physically and emotionally. Getting plumped up by hormone injections so that I can produce more eggs sounds like something that is done exclusively to chickens, not humans. Plus, the idea of PGD makes me a bit uncomfortable. It seems like I'm trying to play God and determine which child gets to live and which child has to live in a freezer indefinitely. To be clear, these are just my own personal feelings on this. I think women that go through this for the dear children they will have and already love so so much are incredibly courageous and brave. I just don't know if I could handle all that.

We are leaning towards Jeff getting tested at this point. But if we find out he does have SCA3, I don't know if I will have the strength to go forward with IVF and PGD. He believes that if we find out he has SCA3, we have even more reason to have a kid because we would need that hope to look forward to and keep going. On an emotional level, I know he's right but on a practical level, my head and mint.com are screaming no. I pray that we never have to make that painful choice.

Iguazu Falls, Argentina, March 2010