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Claire's Story
“I may not be battling on the court anymore, but I’m still fighting. This time, for every life we can save.”
Claire
When Every Moment Matters
In April 2025, Claire was living her dream as a 19-year-old Division I basketball player, strong, driven, and healthy. She had worked her entire life to play at the highest level, and her future looked bright.
But one afternoon on the court, she began to feel dizzy. Her vision blurred. At first, the symptoms seemed minor, maybe a lingering infection or exhaustion from training. A trip to the doctor led to antibiotics for swollen glands, and an eye appointment resulted in new contact lenses. For a while, things seemed to improve.
The Moment Everything Changed
On June 1st, Claire woke up feeling sick to her stomach with muscle aches, this was nothing unusual, with food allergies, she just assumed she accidentally got into gluten. She rested most of the day, ate dinner, and felt better by evening. But the next morning, the symptoms returned. Strange...but again, really thought nothing of it.
That night, June 2nd, while watching a movie with her boyfriend, Claire suddenly stiffened into what looked like a seizure. Claire had never had a seizure in her life, or even passed out. We took her to the local ER, thinking she might be dehydrated from not feeling well.
We will forever be grateful we did.
While waiting in the lobby of the ER, Claire had another episode. As I screamed for help, medical staff ran in and in that chaotic moment, they realized these weren’t seizures at all. They were cardiac events. Claire’s heart rhythm was dangerously unstable. She had several more events that night. The doctors told us later that her heart had been fighting through what was essentially a series of small heart attacks. Something no 19-year-old athlete should ever experience. Thankfully, her heart never fully stopped, like so many do.
Two Weeks in the Unknown
Claire was transferred by ambulance to M Health Fairview Hospital where we would soon meet the medical team who became our lifeline.
She spent the next two weeks in the Cardiac ICU, enduring nearly every test imaginable: echocardiograms, MRIs, CT scans, EKGs, heart and muscle biopsies, EMGs, and countless rounds of bloodwork. Every result seemed to raise more questions than it answered, as her body continued to throw a few "curve balls" throughout the journey.
Claire was discharged with still no real answers, however seemed stable, they agreed to release her, on several medications to heal her heart and wearing a life-vest, just in case.
Finally, one test gave us the truth: genetic testing, comparing Claire’s DNA to ours.
On June 26, 2025, after 24 days of uncertainty, we received the results that changed everything. Claire had a rare genetic heart mutation in the PPA2 gene, a defect that affects the mitochondria, the part of each cell that creates energy. This mitochondrial failure had been slowly damaging & scarring her heart, unnoticed, until her heart had been pushed beyond what it could handle.
Life After Diagnosis
The discovery made sense in heartbreaking hindsight. Claire had handled every virus, every surgery, every challenge without any sign of trouble over her lifetime. But over the past year, as she trained harder than ever, her heart was silently accumulating damage.
With the diagnosis of PPA2 deficiency, an ultra-rare genetic heart disorder, came a new reality: Claire would need an implantable defibrillator to protect her heart. It was lifesaving, but it also meant the end of her collegiate basketball career. Her lifelong dream was over in an instant.
Still, we knew how fortunate we were. Claire had survived a condition that takes too many lives without warning.
Why We Fight
Our journey to diagnosis, though only three weeks long, opened our eyes to how fragile and complicated the process can be. During that time, Claire received medications and IV fluids that unknowingly contained alcohol, a trigger for her genetic condition. It’s a chilling reminder that even in expert hands, we can do better.
What if rare, life-threatening genetic conditions like PPA2 deficiency
could be identified at birth? How many lives could be saved
through earlier detection?
The Beginning of a New Mission
Out of Claire’s struggle came purpose.
RareDNA Foundation was born from her story and a commitment to advancing Awareness, Access, and Action for families affected by rare genetic heart disorders.
We fight for the families still searching for answers, for the children and adults whose risks remain hidden, and for the doctors and scientists working toward earlier diagnosis, better care, and advances in research and treatment.
Claire’s strength continues to lead us. She may not be on the court anymore, but she’s still fighting. This time, for every life that can be saved through knowledge, research, advocacy, and awareness.
Because when it comes to rare genetic heart disorders, every moment truly matters.
Shared from Sheila Stern's point of view, Claire's mom & advocate warrior.