--- title: "Luella’s Story: A Diagnosis Delayed, A Voice Found" description: A mother shares her daughter’s delayed Prader-Willi syndrome diagnosis and why newborn screening and early detection matter for rare disease patients. image: https://www.patientsrising.org/hubfs/2026_Kaylas%20Story_PA14_FINAL.png --- [![Patients Rising](https://www.patientsrising.org/hs-fs/hubfs/raw_assets/public/PatientsRising-u4m/templates/images/patients_rising_logo.png?width=120&height=900&name=patients_rising_logo.png "Patients Rising")](https://www.patientsrising.org/) - Policy Center - - [Policy Framework ](https://www.patientsrising.org/policy) - [Affordability ](https://www.patientsrising.org/policy/affordability) - [Accountability ](https://www.patientsrising.org/policy/accountability) - [Innovation ](https://www.patientsrising.org/policy/innovation) - [Federal Healthcare Policy ](https://www.patientsrising.org/policy/federal) - [Learning Center ](https://www.patientlearningcenter.org/) - - [LEAD Education ](https://www.patientlearningcenter.org/lead) - [Our Community ](https://www.patientsrising.org/our-community) - [Patient Senate ](https://www.patientsrising.org/patient-senate) - Insights - - [All Posts ](https://www.patientsrising.org/advocacy-updates) - [PR Magazine ](https://www.patientsrising.org/pr-magazine) - [Patient Stories ](https://www.patientsrising.org/advocacy-updates/tag/patient-stories) - [Medical Bankruptcy in America ](https://www.patientsrising.org/medical-bankruptcy-america) - [State of the Patient Podcast ](https://www.patientsrising.org/state-of-the-patient-podcast) - Get Involved - - [Share Your Story ](https://www.patientsrising.org/storyshare) - [Become an Advocate ](https://www.patientsrising.org/become-an-advocate) - [Join the Patient Senate ](https://www.patientsrising.org/patient-senate) - [Join Our Community ](https://www.patientsrising.org/community) - [Events ](https://www.patientsrising.org/events) - - [State of the Patient Summit & Rise Awards ](https://www.patientsrising.org/events/summit-and-rise-awards) - [Advocacy Fly-ins ](https://www.patientsrising.org/patients-rising-fly-in) - [Virtual Lunch n' Learns ](https://www.patientsrising.org/events) - Virtual Town Halls - About Us - - [Our Mission ](https://www.patientsrising.org/about-patients-rising) - [Our Principles ](https://www.patientsrising.org/patients-rising-principles) - [Our Team ](https://www.patientsrising.org/team) - [Our Board of Directors ](https://www.patientsrising.org/board) - [Our Advisory Councils ](https://www.patientsrising.org/advisory-council) - [Partners and Coalitions ](https://www.patientsrising.org/partners) - Corporate Partnerships - [Funding & Financial Reports ](https://www.patientsrising.org/financial-transparency) [Donate ](https://patientsrising.org/?form=support-patientsrising) This is a search field with an auto-suggest feature attached. - There are no suggestions because the search field is empty. [Patient Stories](https://www.patientsrising.org/advocacy-updates/tag/patient-stories) [Prader-Willi-Syndrome](https://www.patientsrising.org/advocacy-updates/tag/prader-willi-syndrome) [Caregiving](https://www.patientsrising.org/advocacy-updates/tag/caregiving) [Pennsylvania](https://www.patientsrising.org/advocacy-updates/tag/pennsylvania) Mar 28, 2026 Luella’s Story: A Diagnosis Delayed, A Voice Found ![https://6015202.fs1.hubspotusercontent-na1.net/hubfs/6015202/Favicon.webp](https://www.patientsrising.org/hubfs/Favicon.webp) Written by [Patients Rising Staff](https://www.patientsrising.org/advocacy-updates/author/patients-rising-staff) SHARE Link copied!   Luella’s Story: A Diagnosis Delayed, A Voice Found 4:09   ![Picture3](https://www.patientsrising.org/hs-fs/hubfs/Picture3.jpg?width=433&height=419&name=Picture3.jpg)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. --- ### **Turn Your Experience Into Impact** No family should have to fight alone for answers, care, or support. By sharing your story and joining Patients Rising, you can help bring attention to the policies that affect patients every day—and be part of the movement to fix them. 👉 [Share your story](https://www.patientsrising.org/share-your-story) 👉 [Join our community](https://www.patientsrising.org/community) 👉 [Learn about our LEAD advocacy education](https://www.patientsrising.org/advocacy-course) **Together, we can change what comes next.** Tags: [Patient Stories](https://www.patientsrising.org/advocacy-updates/tag/patient-stories) [Prader-Willi-Syndrome](https://www.patientsrising.org/advocacy-updates/tag/prader-willi-syndrome) [Caregiving](https://www.patientsrising.org/advocacy-updates/tag/caregiving) [Pennsylvania](https://www.patientsrising.org/advocacy-updates/tag/pennsylvania) ## Related Posts [View All News ](https://www.patientsrising.org/advocacy-updates) [Patient Stories](https://www.patientsrising.org/advocacy-updates/tag/patient-stories) Jul 08, 2026 [A Daughter's Mission: Fighting for Her Mom's Medically Necessary Care](https://www.patientsrising.org/advocacy-updates/a-daughters-mission) [Read More ](https://www.patientsrising.org/advocacy-updates/a-daughters-mission) [Patient Stories](https://www.patientsrising.org/advocacy-updates/tag/patient-stories) Apr 18, 2026 [Multiple Myeloma Story: 3 Years Misdiagnosed Before Diagnosis](https://www.patientsrising.org/advocacy-updates/multiple-myeloma-misdiagnosis-paula-story) [Read More ](https://www.patientsrising.org/advocacy-updates/multiple-myeloma-misdiagnosis-paula-story) [Patient Stories](https://www.patientsrising.org/advocacy-updates/tag/patient-stories) Apr 16, 2026 [Denied Care: A Multiple Myeloma Patient’s Fight for a Specialist](https://www.patientsrising.org/advocacy-updates/multiple-myeloma-specialist-access) [Read More ](https://www.patientsrising.org/advocacy-updates/multiple-myeloma-specialist-access) ## Get Updates In Your Inbox Sign up for updates about our patient education, support and advocacy programs and initiatives. 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