Against All Odds: Family Raises $1.5M to Cure Son’s Ultra-Rare Genetic Disorder
The Purdy Family's Journey
The Purdy family's life changed dramatically when their son, Paxton, was diagnosed with an ultra-rare genetic disorder shortly after his seventh birthday. Initially diagnosed with autism, Paxton's condition took a severe turn around age five, leading to intense seizures and neurodegeneration. Faced with the devastating news, Paul and Kristin Purdy experienced immense grief and uncertainty about their child's future. Despite these challenges, the family's determination to find a solution never wavered. Their unwavering commitment marks the beginning of a courageous fight for a cure.
Understanding Paxton's Condition
Paxton suffers from a rare genetic mutation in the CLCN6 gene, which has only been identified in the past two decades. This mutation causes severe neurodegeneration and intense seizures, significantly impacting his daily life. Currently, there is no treatment or cure available for this condition, and out of 30 known cases, two young children have tragically passed away. The rarity and complexity of the disorder make it a challenging area for medical research. Paxton’s condition highlights the urgent need for specialized therapies and attention from the medical community.
Challenges and Daily Life
Living with such a rare condition presents immense daily challenges for Paxton and his family. He undergoes multiple therapies, including speech, occupational, and physical therapy, to manage his autism and motor difficulties. Simple tasks like climbing stairs or holding a cup require assistance, and anti-seizure medications often leave him groggy and can trigger more seizures. At school, Paxton attends special education classes where he receives the support he needs, but his day is still filled with constant medical and educational demands. Despite these hurdles, Paxton remains a happy and social child who enjoys being around others.
Fighting Back: Developing a Clinical Trial
Refusing to accept a future without hope, the Purdy family took proactive steps to combat Paxton's condition. Paul Purdy began researching gene therapies and connected with the University of Massachusetts Horae Gene Therapy Center. Scientists at the center agreed to study Paxton's specific mutation using a specialized mouse model funded by the National Institute of Health. Their goal is to develop a first-of-its-kind gene therapy that could halt or even reverse the effects of the CLCN6 mutation. This groundbreaking effort represents a beacon of hope for Paxton and other children suffering from the same rare disorder.
Raising Funds and Community Support
Developing Paxton’s treatment comes with a hefty price tag of approximately $1.5 million. To finance this critical research, the Purdys founded a nonprofit organization called Cure CLCN6. Through their GoFundMe campaign, they have raised over $60,000 and are actively hosting fundraisers to support their cause. One notable event is a fundraiser at Mountain Mike's Pizza in Temecula, where a portion of each purchase supports the nonprofit. Additionally, Cure CLCN6 is running a shoe drive in collaboration with Funds2Orgs to raise funds and engage the community in their mission.
A Message of Hope
Despite the long road ahead, the Purdy family's efforts have reignited a sense of hope. Paul Purdy emphasizes that while developing the gene therapy will take about three years, having a plan in place is a significant step forward. Their work has also connected them with other families facing the same rare mutation, fostering a supportive community. The family's resilience and proactive approach showcase the power of hope and determination in the face of adversity. As they continue their fight, the Purdys remain an inspiring example of how love and perseverance can drive meaningful change.
Conclusion
The Purdy family's journey is a testament to the strength and resilience that parents can harness when faced with unimaginable challenges. Through their unwavering dedication, they are not only striving to save their son but also paving the way for future treatments that could benefit many others. Their story underscores the importance of community support, research, and hope in overcoming rare medical conditions. As they continue to fight for a cure, the Purdys inspire others to believe in the possibility of a brighter future for children like Paxton. Their relentless pursuit of a solution embodies the true spirit of a family's love and commitment.
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patch.com