eSCAping Type 1

Update: Baby Leo Michael made his debut on 2/16! Everyone is happy, healthy, and home… but very tired. So, here’s a post I actually wrote a few months ago with the intention of helping those interested in the PGD process.

Despite the fact that I am in no way a doctor and all of my knowledge came from reading endless internet articles and meeting with various specialists – all of which you can do, too! – I’ve gotten A LOT (two words) of questions regarding the PGD process.

So, basically, while this longgg post does explain our TTC journey, it’s not personal information because I’m not telling you more than you could’ve just Googled anyway. But working with teenagers taught me how much people rely on just being handed information, so here you go!

[Note: Women on pregnancy forums LOVE acronyms, which is why you’ll find them scattered throughout. Don’t worry – I’ve included a reference table for you at the bottom. I just wanted you to get the full experience and learn as much as possible, that’s all.]

First, we should address why people do this. I’m obviously going to focus on Ataxia here because that’s why my DH and I took this route…

Hereditary Ataxia is either Dominant (SCA, Episodic) or Recessive (FA):

Dominant: “Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene. Since the gene is dominant, if a gene is passed on to the child from one parent, the child will develop the disease. Men and women are affected equally.”

Recessive: “Autosomal recessive inherited diseases affect males and females equally, but both parents must be carriers of the Ataxia gene and each must pass on the Ataxia gene to the child for the child to develop the disease. Each child of parents who are carriers of a recessive gene have a 25% chance of developing the disease, a 50% chance of inheriting just one of the Ataxia genes, becoming a carrier themselves, and a 25% chance of inheriting no Ataxia genes. Because a single recessive Ataxia gene does not cause symptoms, it can be passed on in a family for generations without being recognized. Therefore, there can appear to be no “family history” of Ataxia if the disease was inherited as a recessive gene.”

So, let me try to break this down for you.

My dad had SCA Type 1, which is Dominant. Despite having kids before showing symptoms, there was still a 50/50 chance of me, my sister, and my brother all having it (my parents didn’t know this at the time). I started showing symptoms early, was genetically tested, and given a confirmed diagnosis. Therefore, I know my kids have a 50/50 chance of inheriting SCA, since I did. 

Now, my younger siblings do not show symptoms and have not been genetically tested BUT this doesn’t mean much. Symptoms could start appearing in their 30s, like they did with my dad. So, if they want kids without any chance of Ataxia, they could go through this whole PGD process… 

But say they didn’t inherit the gene from my dad (remember, we each had a 50/50 shot). That means their kids have a 0% chance of having SCA, even though I have it and my dad had it. There would be no point in them doing PGD since their kids can’t inherit a disease they do not have.

FA is different – and far more complicated – in that it’s Recessive. You might carry it but never show any symptoms, which means you could unknowingly pass it on. For SCA, if you carry it, you will show symptoms, there’s just no telling when.

So, if your family has Ataxia (or really any hereditary disease) I recommend getting genetically tested before starting any of this. My neurologist went through Athena Diagnostics to do mine in 2015, and it helped so much having that report to work with. Basically, talk to your doctor extensively before determining if PGD is right for you.

OK, so, say it is…

You can’t do PGD without first doing IVF. For those who don’t know, IVF is “the process of fertilization by extracting eggs, retrieving a sperm sample, and then manually combining an egg and sperm in a laboratory dish. The embryo(s) is then transferred to the uterus.” Click the link to read the pretty straight-forward five-step guide.

Basically, this increasingly-common procedure involves the woman injecting herself (yay, shots!) with daily medicine to stimulate ovarian egg growth. Usually, one ovary releases one egg once a month. I made 24 in one week, which made me look 5 months pregnant when I was not. So, that was fun.

Then, with the help of local anesthesia and a suction needle, those eggs are surgically removed and inspected. Quality eggs are combined with sperm outside of the body (hence petri dish babies) where they hopefully grow into embryos in 3-5 days. Successfully-formed embryos are then either put into mom’s uterus or frozen, depending on numbers and medical factors.

At literally any point in time this procedure could stop. First, there’s no guarantee you produce enough healthy eggs for adequate removal. And even if that part works, no egg may be good enough quality to be inseminated. Then, those fertilized eggs might not grow into embryos. And then there’s still only a 40% chance that that embryo “sticks” to the uterus after it’s implanted! 

That’s all, unfortunately, completely normal and has absolutely nothing to do with Ataxia.

Not every fertilized egg becomes a baby, otherwise a lot of people would have a lot of kids. That’s why most women going through IVF usually get 2+ embryos implanted – some people get twins, while others don’t get pregnant at all. Oh, the things they don’t teach you in Health class… 

You might have to go through several rounds of IVF to create qualifying embryos. And it’s common practice to be required pay for the complete process each time no matter what. Then, only after that happens, there’s that next, essential PGD step to worry about.

So…

There are actually two different genetic tests available for IVF-formed embryos: Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis. Note that first word – both of these tests are done when the embryos are still outside of mom (hence the IVF necessity).

There is genetic testing available for natural babies that are already in the uterus (CVS), but I have no experience with that. There is also a non-invasive screening using bloodwork and an ultrasound to test mostly for Down’s Syndrome that many pregnant women get around 12 weeks (though it is optional).

Anyway…

PGS is far more common; it screens for extra or missing copies of chromosomes, not a certain disease. In doing PGS, couples can better see which embryo is most likely to result in pregnancy.

PGD looks for single-gene defects, resulting in a specific genetic disorder, like Cystic Fibrosis, Huntington’s, or Ataxia. To do this, a small piece of each embryo created during IVF is biopsied and sent to a testing company. The DNA in each miniscule sample is genetically tested, while the embryos themselves remain frozen at the fertility clinic, to eventually be thawed/implanted/discarded/stored depending on results. 

Now, since PGD is only testing for one specific disease, each couple gets their own, individualized test/plan. I highly recommend contacting the testing company (which is usually separate from your fertility clinic) yourself to make sure they can create your test before even starting IVF.

You see, our company struggled to create our test because the only DNA with SCA they had to work with in my family was mine. Usually, the testing lab gets DNA from multiple family members with the same genetic disease, that way they (basically) have “healthy” and “unhealthy” DNA to compare the embryos’ to. But my dad passed away in 2015, and neither of my siblings have (thankfully) been diagnosed, sooooo that was a slightly stressful roadblock.

Yet, somehow, Cooper Genomics pulled through and successfully created an SCA Type 1 test using saliva samples from me, my husband, and my mom.

Anyway. 

After 2+ years, we were finally ready for that final step; the fertility clinic would thaw and implant a confirmed healthy, Ataxia-free embryo. So, leading up to my FET & then during the TWW, besides learning a whole bunch of acronyms, I also ate pineapple core and wore fuzzy socks and followed every IVF superstition to perfection. 

I am fine with anyone calling me crazy, BECAUSE IT WORKED. To be honest, I would have worn a paper bag over my head for a month if Google said that helped with a BFP. Sure, all of the shots, medication, and modern hospital technology probably helped, but I bet it was those disgusting Brazil nuts I snacked on daily that really did the trick.

So, yes, this scientific process is amazing, but it’s not for everyone. At the risk of sounding dramatic, it’s nothing short of a miracle that our Ataxia-free baby was created and conceived on the first try. It’s expensive, time-consuming, and not guaranteed to even work – so, basically, don’t judge Ataxians who don’t do this. I, for one, sure am happy my parents had me.

Since this FTM will be having her LO any day now, I can’t guarantee responses to questions you might have. BUT I am hoping that someone, somewhere finds this post helpful. Though please keep in mind, I’m only human, so parts of this post could actually be VERY wrong! While I do have first-hand experience and years of research under my belt, I also have NO medical training and pretty bad Baby Brain. So…

ACRONYM REFERENCE

• IVF – In Vitro Fertilization
• PGD – Preimplantation Genetic Diagnosis
• PGS – Preimplantation Genetic Screening
• CVS – Chorionic Villus Sampling
• TWW – two-week wait
• DH – darling husband
• BFP – big fat positive (pregnancy test)
• FTM – first-time mom
• LO – loved one/little one (the baby)
• TTC – trying to conceive
• FET – frozen embryo transfer