“I am a Carrier for a Genetic Abnormality Called a Robertsonian Translocation”

“Around the end of 2017, I found out I was pregnant for the first time. I was so excited! (I had already been married for two years (so people had already been asking ), but both my husband and I were in school, so we decided to wait. I had an 8-week ultrasound, and everything was great! I saw the baby move and heard a heartbeat. 

Then at around 12 weeks, I started spotting. 

I was still very naive then, but my mom insisted I see the doctor. I miscarried at 12 weeks.

My world was shattered, and my life was never the same again. 

Since miscarriages are “common,” my doctor thought nothing of it and said I could try again once my body was ready. 

So about two months later, I was pregnant again. 

And then miscarried around 7 weeks. 

I was honestly traumatized by then and did not know what to do. I asked my doctor if there was a way to do some sort of testing to see if anything was wrong, but I was told there is probably nothing wrong. So my husband and I took a break for a few months from trying and figured my body needed to heal, and then we would be fine. 

In August 2018, I miscarried again. 

I remember staying in bed, watching “Gossip Girl” and eating ice cream for a few days. I had never grieved like that before, and my husband was beginning to worry. 

My doctor agreed to do some testing on the baby from my last miscarriage to see what was going on.

About a month later, we found that the baby had a missing chromosome. 

There was no chance for the baby to survive. This kind of thing is usually passed down to the child by the parent, so he told us we needed to be checked out for any kind of chromosomal abnormalities. 

At this time, I had just found out that I was pregnant again. 

My anxiety was through the roof. 

We went for testing, and I found out that I am a carrier for a genetic abnormality called a Robertsonian Translocation, meaning that two chromosomes, the structures that make up anyone’s DNA, join together in an abnormal way. In short, my chromosome 21 is not in the right place. It’s the most common kind of chromosomal aberration, with about 1/1000 babies that are affected, and women with the translocation may find it difficult to get pregnant. They also have a higher chance of having a miscarriage than those without Robertsonian translocation. Our doctor told us that what it means practicality is I have a 50% chance of miscarriage, a 20% chance of having a baby with Down’s syndrome, and a 30% chance of a healthy pregnancy. 

So I basically say I was waiting to miscarry. 

It was the most anxious I have ever been. 

At 10 weeks, we got the test that told us our baby does not have Down’s syndrome and we are having a boy. 

I tried really hard not to get my hopes up since I had been 10 weeks pregnant before. 

My son from that pregnancy is now almost 4, and I thank Hashem for our miracle all the time. 

A lot was going on in my family when we first learned about my Robertsonian Translocation diagnosis. My brother also found out he is a carrier and that he and his wife needed to do IVF. My sister was engaged to this guy who was not a good match. My sister decided to get tested and found out she was also a carrier. Later, when my sister broke off her engagement, the guy told her he would never have gone out with her in the first place if he knew she was a carrier. 

I was so angry that this was happening. 

I felt like everyone ignored what I told them years ago about getting tested. I felt like I went through so much, and it was almost like a slap in the face that no one thought this was something serious when I initially brought it up. It is just so hard to put all these emotions into words. 

The hardest part was when my brother and sister-in-law were going through IVF (we found out that many people in my family are carriers too), it was this big deal. My parents felt so much guilt (since my brother is the carrier, but most of the IVF process falls on my sister-in-law at the end of the day). My brother and sil now have a 6 month old baby, thank Gd.

But since they did it and everything is “fine,” everyone thinks I should be able to do it with no problem. My mom will make comments like, “Your son will be so old when he has a sibling,” or “If he had a sibling, he wouldn’t act like that.” And my dad called me once and gave me a long speech about how it’s probably the right time to start for a baby and I shouldn’t worry too much about it. 

The thing is that no one else in my family had to go through the traumatic experiences I did. I’m not saying that my siblings didn’t struggle at all or that now it’s smooth sailing for them, but it just feels like how they felt and reacted to IVF is projected onto me. We both have to go through the same process of IVF and PGD, but we didn’t have the same emotional experiences.

So, whenever I think of maybe starting IVF, I have flashbacks of my miscarriages. It’s like my body instantly goes to a trauma response, and I feel like I have to start healing myself all over again. My family just doesn’t understand this. It’s like everything I went through has disappeared. I don’t think it’s 100% their fault; I am not super vocal about it with them (it’s hard for me to be emotional with my parents in general), so I never spoke a lot about it. And they don’t mean any harm.

But they do know I suffered. I know they mean well, but it’s getting harder to ignore. 

And now, here we are 2023. I would love for my son to have a sibling. IVF with PGD is our best option for a healthy baby, but we are so hesitant. Honestly, IVF scares me. I don’t like needles and any type of doctor that has to do with pregnancy gives me major trauma. 

I feel like my life is finally back to normal. I feel more like myself, and my relationship with my husband is finally returning to the “before miscarriage “ normal. Every time I think of having another baby, I am so overwhelmed. 

I am not really sure what to do.”