As the walls seemed to close in and the ten people in the room morphed into anxious, wide-eyed versions of themselves, the doctor placed her hand on my knee and said, “But don’t worry, we collaborate with Make a Wish frequently.” That was the moment it hit me—after three years, four months, and 26 days of unrelenting worry, therapy, and countless appointments, I had finally received what I thought I desired: a diagnosis.
My daughter entered the world six weeks and four days early on a hot July night, letting out a primal scream and earning an Apgar score of nine. That was the last time she did something that was developmentally typical. My second child, my sweet baby girl, was anything but ordinary. I vividly recall sitting in the NICU, asking if this was the beginning of a tumultuous journey for preemies. The staff assured me she would be perfectly fine—just a little delayed.
Fast forward to reality: She crawled at 11 months and took her first steps at 24 months. We’re still waiting for her to speak. On her second birthday, I learned she had Cerebral Palsy. At least it wasn’t degenerative, and with determination, I believed she would progress. And she did—until I learned that progress would eventually plateau.
On December 13, 2013, while eight months pregnant with my third child, I stepped into what can only be described as a chaotic whirlwind. Surrounded by ten professionals, including a social worker, I should’ve sensed the impending storm. There I stood, round and happily pregnant, with my cherubic three-year-old by my side.
And then it came: “Your daughter has a genetic syndrome!” “It’s degenerative!” “There are no cures or treatments!” “She will have a shortened lifespan!” “It’s incredibly rare, with no known research for a cure!” “Your unborn baby has a 25% chance of having the same syndrome!” “You can never have unprotected sex with your husband again!” “Your daughter is going to die!”
And the final blow: “But don’t worry, we work with Make a Wish all the time.” Wow! With all due respect, doctor, I’m not concerned about a trip to a theme park right now.
Now, nearly a year later, my daughter continues to make progress, and she’s thriving. My son was born shortly after that fateful appointment—healthy and free of the syndrome (a daily blessing). My husband and I are navigating this unfamiliar territory, sometimes struggling, but we’re managing to keep afloat.
Our eldest son is beginning to grasp that his sister is different, and we’re addressing his questions as they arise. We haven’t shared our situation broadly yet, but those few who know about our “Make a Wish” journey have been incredibly supportive.
So, what’s the purpose of sharing this narrative? If I could make one wish, it would simply be to not have to make a wish at all.
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Summary:
This narrative recounts the emotional journey of a mother facing her daughter’s diagnosis of a degenerative genetic syndrome while pregnant with her third child. Despite the challenges and the overwhelming information from medical professionals, she reflects on her daughter’s progress and the support of her family and friends. Ultimately, her wish is for normalcy instead of navigating the complexities of her daughter’s condition.