A Diagnosis Without Support
A Down syndrome Diagnosis Without Support – Parent Perspective
During my recent travels, I had the opportunity to meet a parent and her 24-year-old daughter who has Down syndrome. These wonderful ladies are family members of dear friends, and we spent some time together over dinner. It was one of those conversations that stays with you – leaving your heart feeling both full and a little heavy at the same time.
I would like to share a portion of what I learned from that evening, while also respecting their privacy. For that reason, I am using alias names for both of them in this story.
It quickly became clear that the daughter, whom I’ll call Lucy, is well spoken, has a love for country music, and works at her local school. She was engaging, confident, and a joy to talk with. As the conversation flowed, I shared with her mom, Valerie, where I work and explained what GiGi’s Playhouse is all about. Why does GiGi’s exist?
Valerie listened with interest but shared that she had never heard of GiGi’s. There isn’t a Playhouse located anywhere near where they live. That moment marked the beginning of a much deeper conversation. That’s when Valerie began to share Lucy’s journey with me.
The most surprising part of her story? Lucy was not diagnosed with Down syndrome until she was four months old. Yes, you read that right!
Lucy and her twin brother were born with concerns surrounding Lucy’s size and heart issues, but nothing had been identified prenatally because of her twin brother’s positioning. Lucy was essentially shielded during ultrasounds. A few months later, while preparing for Lucy’s heart surgery, someone asked Valerie whether Down syndrome had ever been mentioned or tested for.
Testing was done, and while Lucy was still in the hospital recovering from heart surgery, an employee from a local genetic testing office walked into the room and abruptly stated that Lucy had Mosaic Down syndrome, then turned around and walked out. No explanation. No opportunity for questions. No resources. Just gone.
Understandably, Valerie’s mind was spinning.
In the days that followed, Valerie began researching on her own and scheduled an appointment with the genetic testing clinic. During that visit, she was told – quite rudely – that no one from their office would have given that diagnosis and that it was incorrect. She was then told Lucy had Trisomy 21. Again, there was little compassion, no guidance, no resources, and essentially a “good luck” as she walked out the door.
There are no Down syndrome–specific resources in their area. Eventually, Valerie connected with another mom, and together they built a friendship that grew into a small support group, opening communication for other families to join. As she shared all of this with me, tears filled her eyes as she said she had felt so alone.
When dinner came to an end, and we went our separate ways, I thanked Valerie for sharing her story. I told her how wonderful it was to meet both her and Lucy, and that it was clear Lucy had always been a priority, is loved fiercely, and was given the very best her family could provide. I also gave her my business card and information about GiGI’s Virtual Playhouse in hopes that they can get connected with our community virtually. Although it does sound like Lucy keeps pretty busy!
This interaction stayed with me long after we said goodbye. It also reminded me exactly why GiGi’s Playhouse exists. Our mission to change the way the world views Down syndrome and to send a global message of acceptance for all is so important. Many of you know we do this by providing free educational, therapeutic, and career development programs, while creating a community where families are supported, connected, and never alone.
No parent should ever feel the way Valerie did. No one should feel alone on this journey. If you have not made a connection to our local playhouse here in the Quad Cities, please reach out. We’d love to talk about all that GiGi’s offers, but also introduce you to other parents who will quickly become your friends too!
I feel blessed to be part of so many journeys and hope you never feel alone!
All my best,
Pam Lynch, Marketing & Events Coordinator at GiGi’s Playhouse Quad Cities
This is just one parent’s perspective. We would love to hear your story, too! If you’re willing to share, please contact me via email or by calling the playhouse.
plynch@gigisplayhouse.org or 309-762-7529
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