Congenital Diaphragmatic Hernia Research

Every day, numerous expectant parents, brimming with anticipation and delight as they welcome their newborn, embark on visits to their obstetrician or proceed to the delivery room. Their hearts are filled with eagerness, yearning for that precious first glimpse of their little miracle. However, for a significant portion of these parents, their encounters in those medical settings—be it during doctor appointments, ultrasound scans, or the delivery process—result in an unforeseen revelation: the presence of Congenital Diaphragmatic Hernia.

Congenital Diaphragmatic Hernia (CDH) is a profound congenital anomaly characterized by incomplete formation of the diaphragm, resulting in the migration of abdominal organs into the chest cavity and hampering lung development. The treatment of CDH necessitates intricate surgical intervention, prolonged hospital stays, respiratory support, and occasionally the utilization of heart and lung bypass devices, leading to complications and long-term medical challenges. Regrettably, approximately 50% of children affected by CDH do not survive.

Congenital Diaphragmatic Hernia (CDH) affects approximately 1 in every 2,500 live births, making it a significant health concern with notable CDH incidence rates in the United States alone. On a global scale, since 2000, more than 300,000 children have been impacted by Congenital Diaphragmatic Hernia, with over half of them succumbing to the condition. In underprivileged nations, the survival rate plummets to a distressing 1%. Remarkably common, CDH is on par with conditions like Spina Bifida and Cystic Fibrosis in terms of incidence, yet it lacks comparable awareness and funding. The cause of CDH remains unidentified.

CDH International is dedicated to advancing research efforts aimed at identifying the causes, preventing, and discovering optimal treatments for Congenital Diaphragmatic Hernia (CDH). With an extensive 24-year history, our organization is deeply committed to providing unwavering support to individuals and families affected by CDH. We operate with exceptional efficiency, maintaining a lean 6% overhead, and ensure complete transparency in our financial operations. Our relentless dedication to combating CDH on a global scale has garnered notable recognition.

Our primary focus revolves around prioritizing the well-being of children, striving to save lives and enhance their quality from infancy through adulthood. Despite operating on an average annual budget of just $250,000, we have achieved remarkable milestones and continue to do so. However, the time has come for us to broaden our impact, amplifying the voices of CDH patients and propelling research forward with greater momentum. Taking a historical overview of CDH, we can trace the progress made over the years, from early accounts of this condition to the current state of knowledge and treatment options.

CDH International actively collaborates with researchers from multiple countries, fostering partnerships that extend to the esteemed World Health Organization and its Global Initiative for Children’s Surgery. For over two decades, we have wholeheartedly championed the invaluable work conducted by the CDH Study Group and diverse pediatric surgery associations on a global scale, demonstrating unwavering dedication. Pioneering researchers in the field of CDH have paved the way for advancements, their groundbreaking work laying the foundation for understanding the causes, diagnosis, and management of this complex condition.

In our relentless pursuit of unraveling the root causes of Congenital Diaphragmatic Hernia, we have established and maintained robust collaborations with renowned genetic laboratories at DHREAMS/Columbia University, Mass General, and the University of Utah. Through consistent cooperation and support of these exceptional genetic teams, we firmly believe that a breakthrough in understanding CDH is on the horizon within the next three years. In anticipation of this significant milestone, we have proactively initiated partnerships with pharmaceutical companies, aiming to expedite the implementation of gene therapy for the benefit of CDH patients worldwide.

In addition, CDH International is forging new collaborations with multiple hospitals in Canada and Europe, building upon our existing partnerships with the National Institutes of Health and active engagement with various European entities. Our involvement within the Rare Disease Community remains robust and ongoing. Recent advancements in CDH research have uncovered new insights into genetic factors contributing to the development of CDH, revealing potential targets for early detection and innovative treatment strategies.

To facilitate comprehensive research and advance understanding, we are steadfastly developing and expanding our CDH Patient Registry. This registry holds the distinction of being the largest patient-led research repository on a global scale, meticulously documenting the natural progression of Congenital Diaphragmatic Hernia. It currently encompasses over 6400 cohorts, serving as an invaluable resource for researchers and medical professionals alike.

In 2019, CDH International launched a global initiative to establish comprehensive standards of care for Congenital Diaphragmatic Hernia (CDH). Our primary objective is to ensure the universal implementation of minimum care requirements, with the ultimate aim of enhancing outcomes for infants with CDH. Breakthroughs in CDH management, such as improved prenatal diagnosis, minimally invasive surgeries, and advanced neonatal care, have boosted survival rates and long-term outcomes. Simultaneously, we are actively advocating for expanded insurance coverage to ensure access to essential medical services for these children. Through the gathering of data, we are working towards providing the first comprehensive global perspective on CDH mortality and morbidity, which will greatly contribute to our understanding of the condition.

It is important to note that these efforts will not impede groundbreaking CDH research. On the contrary, they will empower smaller facilities and resource-limited settings by providing them with essential tools and information to enhance survival rates. Furthermore, accurate data on survival and complication rates will shed light on the effectiveness of current research endeavors and guide future advancements in the field. CDH support organizations offer vital resources, support networks, and advocacy for affected families, promoting awareness, research funding, and access to specialized care. Long-term outcomes of CDH survivors encompass pulmonary function, neurodevelopmental outcomes, and overall quality of life.

In collaboration with hospitals, we are deeply committed to investigating the long-term effects of CDH in survivors and developing strategies for comprehensive care throughout the lifespan, extending beyond pediatrics and into adulthood. Additionally, we strive to provide continuous support to the CDH research community, particularly in crucial areas such as in utero care and advancements in surgical materials. By fostering these collaborations and offering ongoing assistance, we aim to drive progress in CDH research, ultimately improving the quality of life for individuals affected by CDH at every stage of their lives.

CDH International is dedicated to advancing its mission by not only sustaining its ongoing efforts but also actively fostering research collaborations, funding innovative projects, and actively involving more patients in research opportunities.

Our organization is committed to sponsoring and future prospects in CDH research collaborations that bring together experts from diverse disciplines and institutions. By providing funding for innovative projects, we aim to drive groundbreaking discoveries and advancements in the field of Congenital Diaphragmatic Hernia (CDH). Additionally, we actively strive to engage patients and their families, recognizing the immense value of their insights and experiences, and encouraging their active participation in research endeavors.

But we cannot do this alone.

We are actively seeking partners to collaborate with us in advancing research efforts. We invite corporations, organizations, and patient families who share our unwavering commitment to the cause of saving these children to join forces with CDH International. With our 24 years of experience, extensive relationships with all stakeholders, and profound understanding of the research and researchers involved in combating this devastating birth defect, we have demonstrated our resolute focus on defeating CDH on a global scale.

When you choose to work with CDH International, you can have confidence that we possess the expertise and determination to accomplish our goals. We approach our work with integrity and deep respect for the entire patient community, offering a unique level of patient advocacy that sets us apart from others in the world. Together, we can make a significant impact in the fight against CDH. We invite you to join us in this crucial endeavor.

Corporations can help by:

Donate Directly for CDH Research
Become a Corporate Partner
Match donations during the April 19th CDH Telethon
Sponsor Fundraising Events

Patients and families can help by:

We invite you to stand with us in this vital battle. Together, let us champion this lesser-known cause and rally support for the hundreds of thousands of children affected by CDH. Let us ignite a global movement, fueled by a fervent commitment to research that will pave the way for saving their lives.

We express our heartfelt gratitude for your support in advancing our cause and making a difference in the lives of these precious children. To become an integral part of this initiative, please explore the links provided above. Alternatively, if you wish to contribute on a larger scale or have any inquiries, please feel free to reach out directly to our President, Dawn Ireland, at dawn.ireland@cdhi.org.

Once again, thank you for joining us in this fight and for your dedication to helping these children. Together, we can make a meaningful impact and bring hope to their lives.

Download the latest CDHi Guide.

For more than 25 years, CHERUBS has been collaborating closely with families to gather valuable patient information to advance research on Congenital Diaphragmatic Hernia (CDH).

To ensure privacy and security, families have the option to submit their data online through a secure form that is fully compliant with HIPAA (Health Insurance Portability and Accountability Act) and GDPR (General Data Protection Regulation) regulations. This information is of immense significance as it directly correlates with the data submitted to the CDH Study Group and DHREAMS, allowing us to piece together the various aspects of the CDH puzzle.

We invite you to explore the groundbreaking research study conducted by CHERUBS and its partners at www.cdhresearch.org. This study presents invaluable insights and findings that contribute to our understanding of CDH, ultimately leading to advancements in diagnosis, treatment, and improved outcomes for affected individuals.