Receiving a diagnosis of FCS can provide relief to patients and those that care for them. But relief can quickly turn into confusion because having a rare disease can be an overwhelming experience. People with FCS often have to see multiple healthcare providers and take frequent medical lab tests, all while making serious lifestyle changes.
There are key steps that people with FCS and their families can take to manage life with this condition:
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A strong support network of healthcare providers, including doctors, nurses, and dietitians, can guide people with FCS and their families in making decisions and understanding the disease.
Genetic testing looks for changes in a person’s genes called disease-causing variants (also known as mutations), which may cause FCS. This can help healthcare providers rule out other disorders where the body can’t digest fats and confirm a diagnosis.
Organizing health information helps people with FCS know where important information is when it is needed—for example, when making a trip to the Emergency Room or visiting a new doctor for the first time. Management tools can help patients keep track of FCS educational materials, medical history information, prescriptions, and other info related to FCS, for quick access when it is needed.
[responsive_vimeo https://vimeo.com/525113898]Video: The Importance of a Proper FCS Diagnosis