I share my story as a mother whose life was shaped by grief, uncertainty, and fear—but also by resilience, research, and advocacy.
My journey into motherhood began with confusion.
During my pregnancy, there was always something wrong—but never a clear answer. Each new concern was dismissed as coincidence. We were told not to worry.
But something wasn’t right.
When my daughter, Luella, was born, she had low muscle tone and was diagnosed with failure to thrive. Even then, the signs were there. She couldn’t properly suck, swallow, or stay awake. She required a feeding tube to survive.
Still, we were told she was doing fine.
She was discharged from the NICU after just six days.
At home, things didn’t improve. During doctor visits, her temperature would drop when undressed. She remained lethargic and unresponsive. As first-time parents, we trusted the medical system—but deep down, I knew something was being missed.
That uncertainty lasted for months.
At three months old, we began early intervention therapies. Shortly after, a visit to a children’s hospital changed everything. Doctors there immediately recognized how serious her condition was. She was admitted for a full week of testing.
And still—no answers.
Until one possibility remained: a rare genetic condition.
Six weeks later, we received the call.
"Your daughter has Prader-Willi syndrome."
It’s a disorder caused by a defect on chromosome 15. It affects muscle tone, feeding, development—and eventually leads to a constant, life-threatening drive to eat without ever feeling full.
We were told we received a “late diagnosis.”
She was six months old.
Looking back, the signs were there from the beginning.
And that’s the hardest part.
Prader-Willi syndrome can be identified through genetic testing—often in the NICU or shortly after birth. Early diagnosis can be lifesaving. But in our state of Pennsylvania, PWS is not included in newborn screening.
That means families like mine are left searching for answers while critical time is lost.
If Luella had been screened at birth, we could have had answers within weeks—not months.
We were lucky.
She made it through those first six months.
Not every child does.
Today, Luella is thriving in ways we were once told might not be possible. She continues to grow, learn, and surprise us. She has turned what once felt impossible into something extraordinary.
She has also changed me.
Luella made me stronger. She made me braver. She gave me a purpose I never expected.
Because once you’ve lived through uncertainty like that—once you’ve watched your child fight for answers—you can’t stay silent.
I’ve since met with our state senator to advocate for adding Prader-Willi syndrome to Pennsylvania’s newborn screening panel. I am also working toward a position on the Pennsylvania Rare Disease Advisory Council.
Because early diagnosis matters.
Because no parent should have to beg to be heard.
Because no child should wait months for a diagnosis that could save their life.
Luella’s journey has taught me something I will never forget: the milestones that others take for granted are our victories. And the victories that once felt impossible—those are our miracles.
Her diagnosis once felt like the end of the world.
Now, it is the reason I fight for a better one.
Editor’s Note:
Patients Rising shares patient stories to raise awareness and reduce isolation among patients and caregivers navigating serious health conditions. Stories are submitted by patients and may be edited for clarity and flow while preserving the author’s voice. The experiences described are personal accounts and should not be considered medical advice.
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