CSID is a rare disorder, sometimes called an orphan disease or disorder. According to the National Institutes of Health, a disease that affects less than 200,000 people is considered to be a rare disease in the United States. Using this criteria, there are approximately 7,000 recognized rare diseases in the United States. Of the 7,000 recognized rare disorders, only 200 have an FDA-approved medical treatment.
Getting a correct diagnosis is often a major challenge for someone who has a rare disorder. Many people are unable to get a diagnosis, are misdiagnosed, or receive several different diagnoses over a period of time. There are many reasons why getting a rare disease diagnosis can be a long, frustrating experience.
First, it may seem obvious, but the very fact that a disease is rare makes it difficult to be recognized. Detailed information regarding CSID may not be included in the standard training a physician receives. A physician may have read some information about CSID in medical school, if at all. Most pediatric gastroenterologists have not seen a child with CSID in their practice. Overall, physicians receive little medical training in rare disorders and can spend an entire career without ever encountering one. There may also be a delay in diagnosis due to the symptoms of CSID (diarrhea, bloating, abdominal pain, etc.) that are shared by other more common diseases.
Also compounding the diagnostic process is that the gold standard for diagnosing CSID is a disaccharidase analysis from a small bowel biopsy during an upper gastrointestinal endoscopy. Many pediatric gastroenterologists are reluctant to subject an infant or small child to such an invasive procedure. Also, many gastroenterologists do not order the disaccharidase analysis test at the time when the small bowel biopsies are conducted.
It is important to maintain a mindset focused on moving forward once you/your child has been diagnosed with CSID. Yes, it may have taken a long time to reach a proper diagnosis. If possible, try to take that frustration and put it to good use by educating yourself about CSID and how best to adapt to life with CSID.