If your child were critically ill, how far would you go to find answers?
Butler County mom Missy Ramirez went to Bethesda, Maryland, to speak in front of the National Institutes of Health to advocate for a cure for her 11-year-old son, Jax Ramirez. Jax has been diagnosed with IPEX syndrome five, an extremely rare autoimmune disease.
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The Ramirez family is pushing for a cure as Jax continues to face a condition where most patients do not survive childhood. The family’s mission includes advocating for clinical trials and a national blood stem cell registry, as the current standard treatment is often unavailable within the necessary timeframe.
The Ramirez family, who are from Zelienople, lived near a major medical hub during their search for answers. Ramirez noted the difficulty of finding specialized care despite their location.
“The irony of our situation was sharp and painful. We live just 20 miles from Pittsburgh, a world-renowned hot spot for health care, yet for Jax’s specific rare condition, that proximity meant nothing,” Ramirez said. “When you are a parent facing a rare disease, you learn quickly that waiting isn’t an option.”
The family has spent years seeking a blood stem cell transplant, which remains the only current treatment for IPEX syndrome five. The timeline for such a procedure can be prohibitive for families in their position.
“We had been searching for a blood stem cell transplant for years. They told me it could last sometimes up to 10 years, and we don’t have that kind of time,” Ramirez said.
The lack of existing medical data prompted the family to take a more active role in the scientific process.
“The lack of information turned our fear into a desperate driving mission, because we realized that if the research didn’t exist to save him, we would have to be the ones to create it,” Ramirez said.
During her address to government leaders and scientists in Maryland, Ramirez outlined a specific call to action. Her advocacy includes pushing for more people to join the national blood stem cell registry and using social media to connect other families with rare diseases to research resources. She also requested support for a clinical trial at Stanford University that focuses specifically on IPEX.
Ramirez was the first pediatric patient to participate in the Stanford University clinical trial. The family reported that the 11-year-old is already seeing results from the treatment.
The Ramirez family is currently waiting for the official green light to begin Phase Two of the clinical trial at Stanford University. Progress reports on Jax’s results will continue as the family advocates for a genetic map to assist other families facing rare diseases.
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