IVF Round 1

A One-in-a-Million Match: Our Story

I'd always thought my husband and I were a "one-in-a-million" match. I never expected it to manifest like this.

There are 8.4 million people in New York City. 579 million people in North America. And 7.49 billion people in the world. When I first met my husband, it felt like a “one-in-million” find. I had no idea that this feeling would actually manifest itself later in our lives.


Let me start at the beginning. Just three months into trying naturally to conceive, I took a genetic screening test offered by my OBGYN who recommends this screening as part of her routine preconception workup. For those new to genetic screening, this test, which can be done before you conceive or during pregnancy, can tell you if you and your partner are at risk of passing along certain genetic diseases to your children that you may not have yourself, like Tay-Sachs or Fragile X Syndrome. It works by screening your DNA for over 100 recessive disorders. Since there is no history of any of these diseases in my family, I had no qualms about the test and did not give it more than a minute of thought.

The results of this test revealed that I was a “carrier” of a single gene recessive disorder for an inheritable disease. Being a carrier for a recessive disorder means nothing on its own; you do not – and will not – have any health problems from “carrying” this recessive gene over the course of your life. In fact, it’s estimated that all people carry about 5 or more recessive genes for genetic diseases and conditions. When a recessive gene becomes problematic is when both parents are carriers of the same genetic mutation. When this happens, there is a 1 in 4 chance (or 25% probability) of the parents passing the disorder to their child.

Just about everyone carries a gene for at least one genetic disorder — even if it’s never shown up in a family history. If you have a mutation in just one set of genes, you’re what’s known as a “carrier”: You’re carrying the genes for a genetic disorder but have no signs of the disease. […] It takes a mutation in both sets of DNA, one from Mom and one from Dad, for a child to actually be affected by a genetic disease. (source).

My OBGYN assured me that the odds were in our favor. While being a carrier for a recessive disorder is pretty common (approximately 1 in 24 people), two partners being carriers of the same recessive disorder is much more rare (approximately 1 in 900 pairs).

I’m a numbers type of gal. I immediately clung to those statistics like a security blanket, letting them buoy me through the next few weeks as we waited for my husband’s results. A few weeks later, my OBGYN called to inform us that we were in fact both carriers of the exact same single gene recessive disorder.

“It’s a rare “one-in-a-million*” type of situation,” my Dr. said.

*(As stated above, it’s actually more like 1 in 900 pairs, but she used this hyperbole and I’ll keep it going for the sake of this story’s narrative 🙂 ). 

During those first few days I grieved a lot. I rode the waves of “why me” anger; I felt stigmatized and “marked” by a genetic disorder that I didn’t even know I was walking around carrying; but mostly I felt the true loss of never being able to try naturally for a child without facing the fear of passing on a terminal disease. That 25% chance was just too high of a risk for us to accept.

“When you can’t control what’s happening, challenge yourself to control the way you respond to what’s happening. That’s where your true power is.” (source)

My husband and I have Type A personalities. When a major problem arises, we waste no time immediately grabbing it by the horns and working on it until it’s fixed. Just eight days after finding out this devastating news, we were sitting in one of the top IVF clinics in the country, discovering the brave new world of In Vitro Fertilization with Preimplantation Genetic Diagnosis & Screening.

Here is what that means:

In Vitro Fertilization (IVF): A treatment in which fertility medications are used to stimulate the production and maturation of multiple eggs from both ovaries. Once your doctor determines enough eggs have matured, the eggs are surgically retrieved from your body and fertilized with your partner’s sperm in a lab to create embryos. In a regular IVF cycle, the strongest (highest graded) embryo is transferred back into your uterus for pregnancy. However, in our case, we would take the extra step of Preimplantation Genetic Diagnosis & Screening.

Preimplantation Genetic Diagnosis (PGD): This procedure tests an embryo to identify any genetic disorders before implantation into the uterus.

Preimplantation Genetic Screening (PGS): This procedure tests an embryo to identify any chromosonal abnormalities before implantation into the uterus.

The decision to undergo any form of assisted reproductive technology, such as IVF with or without PGD/PGS, is a deeply personal one and I won’t attempt to create a universal list of the pros and cons. However, for our particular situation, learning about the modern technology and science behind IVF with PGD/PGS testing truly felt like discovering an entire world of new possibilities for us. It immediately filled us with hope, assuaged our fears, and most importantly, gave us back the control to overcome the lousy hand we were dealt.

Here’s what made IVF with PGD/PGS an easy decision for us:

  1. Eradicates Disease & Fear: Since my husband and I both carry the same genetic mutation, we’d always have to face the 25% chance that our child could be affected by the disorder if we continued trying to conceive naturally. Unfortunately, we would have no way of knowing if the child was affected until a prenatal diagnostic test (via CVS or amniocentesis) was conducted between 12 – 14 weeks of pregnancy. This would mean that our entire first trimester of pregnancy would be racked with the fear of the “what if.” IVF with PGD/PGS testing removes that fear completely, as we will be able to screen for the disease in each embryo before pregnancy has occurred.
  2. Decreases Miscarriage/Increases Success: All pregnancies are at risk for a chromosome abnormality. In fact, it is estimated that half of human fertilizations carry the wrong number of chromosomes, which is a leading cause of miscarriage across all age groups. This number only increases as a female’s age increases. PGS testing increases success rates for healthy pregnancies by:
    • Significantly lowering the rate of miscarriage.
    • Lowers the rate for other disorders, such as Down Syndrome.
    • Lowers the rate of IVF “multiples” or twins – since the confidence rate of success for that embryo can be pinpointed, there’s no reason to implant two or more embryos at a time, as was historically done.
  3. Stops Time: “Banking embryos” (which is essentially creating and freezing them all at once) allows us to stop the deleterious effects of our biological clocks. By conceiving all of our children at the ages that we are today (35 years-old), we can capitalize on the health and vitality of our 35-year-old eggs and sperm. This is a major deal as the # 1 contributor to decreasing egg and sperm quality is AGE. This also allows us to feel more confident in the future, as we know that even though we’re getting older, our chances of success for children are not declining since our embryos have been already created and “frozen in time.”
  4. Family Planning: An unexpected perk of PGD/PGS testing is knowing gender, as the XX or XY chromosomes are revealed in the genetic screening of each embryo.
  5. Safe: We’ve found no compelling studies that IVF with PGD/PGS testing has any significant/ harmful side effects to mother or baby.
  6. Affordability: Since our insurance offers capped IVF coverage, it is not entirely cost-prohibitive for us at this time.
illustration by artist Mari Andrew

IVF is a huge undertaking – emotionally, financially and physically. However, the science and technology behind it are absolutely mind-blowing. I feel incredibly grateful to partake in this fascinating process that affords so much hope and opportunity to thousands of couples who also find themselves in a special, “one-in-a-million” situation. <3

1 comment on “A One-in-a-Million Match: Our Story

  1. Pingback: CVS Test Risks & Results: How One Test Saved My Pregnancy - Making Babies in Brooklyn

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