eSCAping Type 1

Guess what? I’m pregnant! Quite a way to announce that to the world, huh?

It’s tough because I’m walking a very fine line with publicly sharing private information. You see, when I write about Ataxia, I get to be conceited. Of course it greatly affects other people, but when it comes down to it, it’s my disease, so I can write what I want. With this baby, however, there are three lives equally involved.

So, I can’t guarantee a lot of detailed posts on this, BUT without getting too personal (is there even a more personal thing than a human growing inside of you!?) I would like to share parts of my pregnancy with you because it’s unique and helpful and science is cool, man. 

Answers to Questions Everyone Asks

I’m due at the beginning of March. We won’t know the sex until then; yes it’s difficult not knowing what exactly is kicking me but they do make kids clothes in more than blue and pink so it’s ok. I never got morning sickness. We like new names every week. I’ve been craving jelly donuts and BBQ pork rinds (not together). Baby is very healthy and doing well. Everyone is super, super excited.

Preimplantation Genetic Diagnosis

Avid readers may recall that SCA is a genetic disease that has a 50/50 chance of being inherited by offspring. So, my husband and I worked with a team of fertility doctors recommended by my neurologist so we could have a healthy, Ataxia-free baby.

Basically, once we made embryos through IVF, they were biopsied for PGD before being frozen. [Please click the links to learn more!] Then, that piece of each was sent to a separate company for individualized genetic testing for SCA1, through a test specifically created using saliva samples from myself, my husband, and my mom. One healthy embryo (whose DNA didn’t match my mutation) was implanted in June, and I’ve had a normal(ish) pregnancy ever since!

Answers to Questions Everyone Thinks (and more than few actually ask)

Yes, it’s ok that I’m doing this. This whole process has been very planned and safe, with doctors approving every step of the way. I am aware that I’m at a greater risk of falling, so I’ve been on self-diagnosed bedrest and bought a wheelchair to use occasionally. No, my baby is not hungry – I’ve always been skinny, but I eat way more than you think I do. I see a team of perinatal OBs at an At-Risk Maternal Medicine clinic every three weeks, who are in constant communication with my neurologist and immediately set me up with a nutritionist, a therapist, a swallow study, a pulmonary test, at-home physical therapy, monthly ultrasounds, and palliative care. They’ve recommended a vaginal birth to avoid C-section surgery recovery. We have A LOT of friends and family who are willing to help out once the baby is born. Whew.

Symptoms

Let me start by saying pregnancy is a unique experience for every single woman; we don’t all get morning sickness, or crave pickles, or cry over commercials… Sure there are common symptoms associated with each trimester, but – like Ataxia – they vary tremendously based on several factors.

Also, I’ve never been pregnant without SCA, so I really can’t tell you how “different” this all is, though there’s not even a “normal” experience to compare mine to.

When most people hear that I never threw up (which is a weird thing to ask a stranger, by the way), they assume I’ve had this wonderful, enjoyable pregnancy. Ha. I know I’m lucky, but there are a whole ton of other very shitty, normal, pregnancy symptoms that no one draws attention to, and I’m pretty sure I’ve had them all.

Like random nosebleeds (got one while writing this), severe insomnia, dehydration, heartburn that feels like you consumed molten lava, constant hip and rib pain, insane hormone fluctuations, hot flashes, nausea, baby brain (yeah, that’s real), and I still have 12 weeks left.

As far as Ataxia goes…

The hardest thing for me right now is standing up and sitting down; my leg muscles and balance both (understandably) suck. And it’s getting increasingly impossible for me to move at all once I’m laying down. I know exhaustion is a very common pregnancy symptom, but I’m going to go ahead and say mine is worse.

There’s absolutely no way I could be working  – I’m thankful I resigned when I did. However, the biggest concern was how this pregnancy would affect my Ataxia; like, would it speed up my symptoms, or intensify them… and I really don’t think my disease has been affected at all.

I mean, yeah I’m in a wheelchair now when I wasn’t before. But you know how swimmers train with drag equipment so the task seems a lot easier when they remove it? That’s what I’m hoping walking around with this bowling ball for a stomach is like. I’m pretty sure I’ll be able to run a marathon in April. I’ll let you know.

It’s really not all bad. My nails are amazing. And since I’m a “high-risk pregnancy” I get more ultrasounds than usual, so I get to see my little peanut every single month. Everyone is unbelievably helpful, but I depend on others A LOT more than I already did. I completely expected this – adding 25 lbs quickly to someone who already can’t walk obviously isn’t going to be easy. Everything I do requires help… which I thought I was used to, but not to this extent.  

Don’t get me wrong –  I am SO THANKFUL for the support and am eternally grateful I even got this experience. It’s amazing that my body is making a baby, but it takes away its ability to do literally anything else.

Advice

If you have a genetically hereditary disease (like SCA) and might want kids, look into everything now. It’s worth it, but the process is expensive and time-consuming. It helps to get genetically tested ahead of time, so the PGD company knows exactly what to look for. And embryos can be frozen indefinitely, so going through IVF does not mean you have to get pregnant as soon as it’s done. Plus, remember, at any point, you might have to start all over – many parts of this process could be unsuccessful, through absolutely no one’s fault. It’s good to give yourself time to do this, even if it ends up being unnecessary.

Also, to any pregnant woman: Take prenatal gummies instead of those huge pills. Invest in a pregnancy pillow early on. Maternity leggings are life-changing. Download the “What to Expect” app but try to stay off of Google. It takes a long time (mine was like 23 weeks) but your stomach will pop and you will feel kicks. And register using Amazon to get a free Welcome Box (I love mine) and then Babylist to get the best deals from a variety of places.

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Writing this, I’m entering my third trimester with an Ataxia-free miracle baby, and am scared and excited out of my mind. And yeah, pregnancy is a very personal journey. But I can’t find documentation anywhere of someone with SCA doing this, so to anyone else looking, here you go! I’ve got experiences you can learn from, & I’ll answer any questions you may have… And if by chance you have any disability and were/are pregnant, I sure would love some advice from you! I’ve got about 40 weeks worth of questions 🙂