Altogether, there are over 7,000 rare diseases. Worldwide, 1 in 20 people live with a rare disease. But the journey to diagnosis can sometimes be confusing or difficult. So when Melissa Zaucha’s daughter, Abby Cate, began showing symptoms at only two weeks old, neither her parents nor doctors knew quite what to do. According to Live 5 News, the family wondered whether Abby Cate was allergic to milk protein. But in reality, Abby Cate is one of the 1 in 20; she has congenital sucrase-isomaltase deficiency (CSID).
At first, the symptoms seemed similar to those of an allergy: colic, diarrhea, abdominal discomfort. Yet despite some attempts at diagnosis, Melissa knew that there was something else going wrong. She continued to seek out doctors and resources, eventually achieving a diagnosis after months. Now, the Zaucha family is working to raise awareness around rare diseases. In the end, spreading awareness and education is crucial to amplifying patient voices and to ensure that everyone is able to get the diagnosis they need.
Congenital Sucrase-Isomaltase Deficiency (CSID)
According to the National Organization for Rare Disorders (NORD), congenital sucrase-isomaltase deficiency (CSID) is:
a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and isomaltase. This enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugars (i.e., sucrose) and certain products of starch digestion (dextrins).
Because of this deficiency, patients are unable to digest nutrients from sugars and starch. Symptoms appear in infancy, typically after ingesting something with sucrose or maltose, such as certain types of baby formula. However, infants who are breast-fed may not show symptoms until ingesting grains or fruit juices. CSID is inherited in an autosomal recessive pattern, meaning a child must receive a defective gene from both parents.
Symptoms vary, but may include:
- Explosive and watery diarrhea
- Nausea and vomiting
- Abdominal pain
- Dehydration and malnutrition
- Abdominal distension
- Failure to thrive
- Colic
- Irritability
- Kidney stones
