I Detest You, Fragile X Syndrome

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Published on October 23, 2017

As I lay there, feet in stirrups and a transvaginal ultrasound wand awkwardly probing, my thoughts drifted to a rather mundane concern: I should have taken the time to groom myself. This was not the ideal way to spend a Tuesday afternoon, but here I was. Dr. Cohen, my physician with a thick Israeli accent, inquired, “Are you a writer? Perhaps you could document this experience.” I gave a subtle nod, trying to focus on the fuzzy images of my ovaries on the screen. It was a mix of excitement and discomfort.

At 39, I felt an intense yearning to have a third child. I had two wonderful teenage sons, but the desire for one more baby lingered like a shadow. Many of my friends had taken the plunge into motherhood again in their late 30s and early 40s, and my own mother had been 39 when she welcomed her third daughter back in the ’80s. The thought of a baby bump and nursery didn’t seem out of reach, even if my “advanced maternal age” posed some challenges.

The most significant challenge was the fact that I was single. After marrying young and having my boys, my divorce in my early 30s left me navigating the dating scene with little success. Most women would find this a major roadblock, but not me. Driven by hormones, I decided to explore the realm of sperm donation. I even chuckled at a scene from a classic sitcom where a character’s mother reacted dramatically to artificial insemination.

I briefly considered approaching my compassionate ex-husband for a donation to avoid the hefty fees associated with sperm. However, before I could act on that, my dreams of cradling an infant were shattered by a sudden medical revelation.

After undergoing an ultrasound and a series of blood tests to assess my reproductive health, I received a call that altered the course of my life. “You are a carrier of Fragile X,” my doctor informed me. My heart sank. What did that even mean? I had never heard of it before. The doctor explained that it was a mutation in the FMR1 gene, and while carriers typically do not exhibit symptoms, this condition could lead to early ovarian failure. I was devastated.

The doctor went on to suggest that I have my sons tested for Fragile X, especially my youngest, who had been diagnosed with a learning disability. My mind raced with worry. Would they be affected? Could this mutation be passed down? The doctor mentioned that boys often experience more severe symptoms, and I learned that early menopause was likely in my future.

How had I been unaware of this? In hindsight, the signs were there. My periods had become irregular, I had experienced a miscarriage with my first pregnancy, and my mother had gone through menopause early. But I had always considered myself healthy.

After testing, I was relieved to discover that my sons did not carry Fragile X. My youngest’s learning disability was unrelated. I felt immense gratitude for the healthy children I had managed to bring into the world, especially considering the doctor’s surprise at my ability to conceive at all. I had once feared I would never have children, and yet here I was, blessed with two amazing boys.

But there still remained an ache, a whisper of loss for the child I would never have. For a while, I didn’t dwell on it too much, as my sons were still young, and my single-parent life kept me busy. However, as they transitioned into their teenage years, needing me less and less, that emptiness deepened. The desire to nurture another child became more intense.

Frustration boiled within me. “Screw you, Fragile X,” I thought. You’ve snatched my choices away and altered my dreams of expanding my family. Other women manage to have large families, but my aspirations were thwarted.

Yet I refuse to surrender. I have considered adoption and even using an egg donor, though these options come with their own emotional and financial burdens. The reality of never seeing a baby that shares my genetic makeup is difficult to accept. Life is undeniably challenging, filled with tough decisions, yet it is also a beautiful journey. I may mourn the child that could have been, but I also celebrate the children I have. I am among the fortunate few who have the privilege of raising kids.

Additionally, I am grateful to live in an era where options like donor insemination and adoption are available to those who wish to expand their families. For more insights, check out this excellent resource on intrauterine insemination or explore options for at-home insemination kits here.

In closing, while I may harbor resentment towards Fragile X, I refuse to let it define me. Life goes on, and so do I.

Summary:

A personal journey of a single mother grappling with the news of being a Fragile X carrier, the challenges of wanting a third child, and the emotional toll it takes. Despite the loss of dreams and choices, she finds gratitude in her healthy children and explores alternative paths to motherhood.