Oftentimes, the rare disease journey can be difficult. Diagnosis may take years. Some conditions are still relatively unknown by doctors. Families must not only learn about these conditions, but how to advocate for themselves and their loved ones. But according to Fox2Now, doctors are working to assist on this journey for patients with congenital diaphragmatic hernia (CDH), a rare condition which causes diaphragmatic defects in developing infants.
Doctors at the St. Louis Children’s Hospital wrote a book called The Boy with the Turquoise Ribbon. Altogether, the book describes the challenges that a young patient with CDH overcomes and endures. This is ultimately to help families understand the condition – and to help rare siblings learn about what is happening with their sibling. All proceeds from the book will help support hospital programs.
Congenital Diaphragmatic Hernia (CDH)
Ultimately, doctors are not sure exactly what causes congenital diaphragmatic hernia, which causes diaphragmatic defects. However, doctors believe that a combination of genetics and environmental factors could spur the condition’s development. Normally, our diaphragm separates chest organs from abdominal organs. But in patients with CDH, the diaphragm either partially forms or is completely non-existent. This causes a hernia (an abnormal opening) through which the stomach and intestines enter the chest cavity. As a result, the organs sit near the lungs and heart, causing other health issues.
While there are numerous types of CDH, the most common are Bochdalek or Morgnani hernias. The former, which makes up an estimated 80-90% of diagnoses, is characterized by issues in the back or side of the diaphragm. Alternately, Morgnani hernias make up around 2% of diagnoses. While this form affects the front of the diaphragm, patients with Morgnani hernias are not as likely to have severe symptoms.
Though the diaphragm normally forms when a fetus is 8 weeks old, CDH is typically diagnoses when the mother is 20 weeks pregnant. Symptoms include:
- Abnormal lung and heart development
- Cyanosis (blue-colored skin and lips)
- Abdominal pain
- Fast breathing and heart rate
- High blood pressure
- Difficulty breathing
- Abnormal chest development