I Hate You, Fragile X Syndrome

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I Hate You, Fragile X Syndrome

Westend61 / Getty Images (left photo) yourgenome.org (right photo)

I should have waxed.

Or at the very least, trimmed up a bit.

That was the first thought that popped into my head as I lay, feet in stirrups, nurse at my head, and a rather obnoxiously large transvaginal ultrasound wand shoved in my lady parts. What a way to break up a dull Tuesday afternoon.

“So, you writer?” Dr. Yemeni asks in his thick Israeli accent. “Maybe you write about this.”

Maybe, I nod, trying not to tense up as the wand probes farther than I thought possible. I take a deep breath and keep my eyes transfixed on the fuzzy images on the screen. The images of my ovaries and eggs. This was exciting, albeit very uncomfortable.

You see, at the ripe age of 39, I had an overwhelming desire to have a third child. I was twice blessed with boys,  now teenage sons whom I adore, but I just couldn’t shake that nagging feeling that I was not quite done with strollers, breastfeeding, and burp cloths.

The urge to go for the third wasn’t all that earth-shattering. Plenty of my friends in their late 30s and early 40s had done it. My own mom was 39 when she gave birth to her third daughter, and this was in the ’80s before we had Halle Berry and Gwen Stefani. So it didn’t seem so crazy when I started daydreaming of bassinets and baby bumps. Of course, besides my “advanced maternal age,” I did have some challenges to overcome, but I’ve always been a resourceful, creative gal, so I didn’t do too much fretting over my decision to repopulate.

Probably my biggest hurdle was that I was single AF. Having married in my 20s, I had my boys young, divorced in my early 30s, and never had much luck in finding a new partner. That was okay. To most rational women, this would have put a big hiccup in their reproductive plans, but not me. Naive, and driven by hormones, I decided I would use a sperm donor, and humorously thought back to that episode of The Golden Girls when Blanche’s daughter Rebecca announces she is getting artificially inseminated and Blanche strongly balks at the very thought of it.

“Sperm used to be free. It was all over the place!

At one point, I even considered asking my kindhearted ex-husband for a donation in order to avoid paying a steep fee for 1 cc of washed sperm, but never got the chance because my dreams of swaddling a milky-cheeked newborn were crushed before I could even say impregnate me.

In order to determine the health of my uterus, eggs, and me in general, my doctor had me schedule the ultrasound and a panel of blood work. Almost everything came back normal. Better than normal actually. I had a healthy uterus, perfect blood pressure, low cholesterol, and a strong heart. I was a perfect vessel to carry a healthy third baby to term, and despite my challenges, I felt the amount of love I had to give to a new baby was enough to overcome anything.

Almost everything came back normal.

On a drippy, sunless morning, I got the call from my doctor that would change the trajectory of my life, and ultimately break my heart.

“You are a Fragile X carrier.”

The words washed over me, and I stumbled to sit down.

A what?! It was a term I’d never heard. What does it mean? Why didn’t I ever know? Do my children have it? Can you die from it? A tornado of questions spun through my mind.

“It’s a mutation in the FMR1 gene, carriers do not show symptoms, but…”

The pause felt like an eternity.

“But it causes early ovarian failure. I’m sorry, but more children for you will be highly unlikely.”

The warm tears began to fall and then panic set in. What about my own children? The doctor calmly advised me to have my children tested to see if they were carriers, especially the youngest who was diagnosed with a learning disability. I heard him say something about how the symptoms are worse in boys, how the gene mutation gets stronger with each generation. I heard words like mental retardation, and how I would most definitely be going into early menopause.

How could I have not known about this? In retrospect, the clues were there. Dr. Yemeni asked if I had trouble getting pregnant. I did lose my first baby to a miscarriage. He asked if my mother went through menopause early. She did. He asked about my periods and any unusual symptoms. I had always been like clockwork, but lately my periods were spotty. I admitted to having intense bursts of sweating, but just attributed it to a new antidepressant I was on, certainly not hot flashes. Never did I imagine I had a gene mutation that was causing my ovarian reserve to fail and send me into early menopause. I had a friend who was 50 who still got periods. Menopause was for people who wore Alfred Dunner slacks and got mail for AARP. This could not be happening to me, but it was.

I quickly got my children tested, and thank god they came back with a clear bill of health. The boys did not have Fragile X syndrome. My son’s disability had nothing to do with Fragile X. Often boys who have Fragile X suffer from learning and other disabilities. I was immediately grateful that I had given birth to healthy children, given that Dr. Yemeni was surprised I was able to even get pregnant at all. I had been devastated years ago by that first miscarriage and can remember with such clarity the fear I felt over not being able to get pregnant. I had been lucky. I carried two beautiful, loud, funny, precious children to term, and had the privilege of raising them. My boys filled up my heart with such joy and always will. But still.

Still there is this thin whisper of mourning that I think about when the house is vacant. For a few years, it didn’t bother me as much. My boys were still immersed in childhood, and frankly I was too busy to properly mourn the loss of an idealized family when you’re a busy single parent. It’s hard to feel sorry for yourself when you’re heating up chicken tenders and trying to help a sixth-grader with ratios. But then it happened. My sons became teenagers and inevitably needed me less. Homecoming dances, trips to the mall, and football games took precedence over hanging with mom at the splash pad. An emptiness began to creep in, and my desire to mother again became even more intense.

I finally got angry. Fuck you, Fragile X, for taking my choices away from me. For taking my dream of raising just one more child. Fuck you for changing my life. For making me feel the loss of my boys’ childhood all the more sharply. For worrying about their own children and if they will be healthy, or will they pass down a gene mutation to my grandchildren?

Other women get to have three, sometimes four babies. I wanted to expand my brood, but Fragile X, you made that impossible for me. Well, almost impossible. You see, I don’t give up that easily. I won’t let you win. I refuse to let you crush me.

I’ve considered adoption and toyed with using an egg donor, but these choices come with huge price tags, both financially and emotionally. It’s hard accepting you will never see another baby with your genetic makeup. But life is hard in general, filled with tough choices, but it’s also brilliantly beautiful. Yes, I mourn the loss of my child that could have been. I always will. But I also celebrate the children that are. I know I’m one of lucky ones who have the privilege of even having children to raise. I’m also lucky to live in a time where I have science to help me if I decide to become pregnant using a donor. I have resources if I decide to adopt a child who needs a home.

But still.

Fuck you, Fragile X. I hate you.