Why Did It Take so Long to Be Diagnosed with CSID?

Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare disorder, sometimes called an orphan disease or disorder. According to the National Institutes of Health, a disease that affects fewer than 200,000 people is considered a rare disease in the United States. Using this criterion, there are approximately 7,000 recognized rare diseases in the country. 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 individuals are unable to get a diagnosis, are misdiagnosed, or receive several different diagnoses over 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 since the symptoms of CSID (diarrhea, bloating, and abdominal pain) are shared by other more common gastrointestinal diseases.

Also compounding the diagnostic process is the fact that the historically definitive assay for diagnosing CSID, the disaccharidase assay, analyzes sucrase activity in small bowel biopsies obtained during an upper gastrointestinal endoscopy examination. 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 when small bowel biopsies are conducted.

It is important to maintain a mindset focused on moving forward once you or 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.