How Genetic Testing Led Me to IVF, Surrogacy, and Parenthood
A rushed phone call about my genetic test results changed everything, leading us through IVF, miscarriage, surrogacy, and the long road to becoming parents.
By Rachel Gerber Kule
I was standing on the corner of 62nd and Lexington Avenue in NYC, about to meet a friend for dinner, when I answered a call from my gynecologist—the same doctor who, at my annual exams, told me my cervix was "perfect" and that I should just think about pregnancy whenever I was ready.
She didn’t think genetic testing was necessary before trying to conceive.
On the call, I learned the contrary: I was a carrier for Fragile X and PKU.
"What does that mean?" I asked.
"I don't know. You'll need to speak with a genetic counselor," she said. "But those are your results."
Click. End of call. Silence.
I didn't know what the results meant, but I knew that it didn't sound good.
I took a deep breath and walked into the restaurant. My friend greeted me with a warm smile. I burst into tears. She'd been telling me about her own IVF trauma for over a year, so I already knew pregnancy wasn't guaranteed for everyone.
When I shared this with Matt, my husband, he assured me everything would be okay.
We knew that we needed more information: What in the world are Fragile X and PKU? And why was I learning about this for the first time at age 33?
Understanding Fragile X and PKU
Thankfully, my mom—ever the researcher—secured an appointment with Mount Sinai right away.
The genetic counselor explained Fragile X and PKU in meticulous detail: Fragile X, which can expand with each generation, is caused by a mutation in the FMR1 gene that disrupts how brain cells communicate.
For some carriers, Fragile X can significantly diminish the ovarian reserve and may prompt early menopause, sometimes well before 40 years old.
Then there was PKU, which showed up for both of us. PKU is short for phenylketonuria, a metabolic condition in which the body can't break down an amino acid called phenylalanine, an amino acid found in many protein-containing foods. Left untreated, it builds up in the blood and brain, resulting in irreversible intellectual disability and seizures; caught early, it's treated with a strict diet and vigilant vitamin regimen—something we hoped to avoid, but that was medically manageable.
Processing all of this, I remember a sinking feeling as they explained everything so clearly—but didn’t quite say the exact words out loud.
So I did.
"Do we have to do IVF?" The genetic counselor responded, "Well, you don't have to... but it might help increase your chances of using your eggs."
I left that office struck with shock and defeat.
Choosing IVF Against the Odds
Matt and I agreed to schedule an IVF consult. Here’s the advice we got:
Doctor 1: “Egg donor.”
Doctor 2: “Futile—don’t bother.”
Doctor 3: “You’re young, and healthy—it’s worth a try.”
And my Dad’s take:
“If you want to be a parent, you’ll be a parent”
He didn’t want me to put myself through what ended up being a significant uphill battle, nearly a decade long. Parenthood, he encouraged, was the goal.
But still, we decided to give IVF a chance. The first shot fell on my birthday. I kept trying to think of it as a gift: the start of a new chapter for a baby.
Many IVF patients retrieve multiple eggs in a cycle. I was able to produce just one at a time. But on our first try, we were one for one: one egg, one embryo. We were ecstatic. Forget “futile!”
Our "embie" (we had already given ita nickname) gave us hope. After testing, it was flagged for PKU.
We remembered Mount Sinai explained PKU as treatable, and as we learned more, we discovered it was actually a mild, rare variant called hyperphenylalaninemia, or hyper-phe. The condition might not even be detectable at birth—and if it was, it could be resolved within a year.
We wanted to have multiple children and were advised that, for every two embryos, it was likely that one would take (not every embryo would lead to a pregnancy). So we continued IVF, but questioned the high-dose medicine approach. After six months and two embryos, we switched care to Dr. Zev Williams at Columbia University Fertility. He was pioneering a protocol designed for patients with diminished ovarian reserve, prioritizing oral medication to achieve the same—if not better—results.
Our first cycle there came back positive for PKU again—but once more, Mount Sinai and now Columbia's genetics teams confirmed it was the hyper-phe variant. They compared it to winning the lottery twice.
When IVF Wasn’t Enough
We kept going, navigating Fragile X and, to a lesser extent, PKU, until we had four embryos ready for transfer. The first ended in miscarriage. To make matters worse, it was poorly timed to the one-year anniversary of my Dad’s sudden passing—a double knockout.
We started questioning everything: Was it the embryos? Was it me? Was it Matt?
After several more failed transfers, the path became even more complicated, and we pivoted to surrogacy, reassured by my Dad's initial wisdom to focus on the goal of parenthood.
It worked.
Amazingly, here I am now writing this after snuggling our baby to bed.
What Genetic Testing Gave Us
Because of the initial genetic testing, we quickly discovered diminished ovarian reserve. That empowered us to make informed decisions, recognizing our odds while valuing strategic action to overcome them.
That first call on a crowded street corner blindsided me—a voice describing an enormous obstacle, then abruptly leaving me hanging without any guidance.
Meeting with genetic counselors was nerve-racking, but the pain was softer: a caring expert looked us in the eye and explained the implications, including options. The facts, context, timing, and delivery helped us understand what we were facing..
Knowledge truly is power. It’s why we were emboldened to face our battle head-on, immediately seeking IVF consultation, evidence-based care, and eventually pivoting to surrogacy.
Time and money are finite, and emotional stress is heavy to bear. We wanted to preserve our energy by focusing on what we could control: getting as much information as possible before weighing our options. If something wasn’t working, we wanted to understand why—and adjust.
Looking back, the power of information, combined with sheer determination, intentional coping, and a strategic partnership with our medical team, is what made us parents.
Become Your Own Advocate
And now, for anyone reading this, I encourage you to take charge of your own fertility experience: Step into that power and bridge the gap between the capabilities and communication of gynecologists, primary care doctors, geneticists, and IVF physicians.
Remember, it’s your life—you’re the only one who is being affected. You’re the one who knows how it feels. And you’re the only one who can seek the right support. Set your goals, know when something doesn’t feel right, and speak up. Get the information and learn your options. Even if—especially if—you’re confused and overwhelmed.
If parenthood is your goal, keep asking questions, keep seeking support, and keep moving toward the version of that dream that’s possible for you.
