Symptom 3: Difficulty Swallowing – The Struggle Behind Each Bite
Swallowing is an action most people perform effortlessly. Yet, for cystinosis patients, each swallow can be a struggle. This difficulty in swallowing, medically known as dysphagia, is another critical symptom of cystinosis that may often go unnoticed until it becomes a significant problem.
Dysphagia arises from the weakening of the muscles in the throat due to the accumulation of cystine crystals. These crystals are a hallmark of cystinosis, and their buildup can affect various parts of the body, including the muscles responsible for swallowing. This buildup can lead to progressive muscle weakness, eventually making swallowing a strenuous task.
This symptom can have severe impacts on a patient’s life, especially children who might not fully understand why they’re struggling with such a basic function. It can lead to a fear of eating or drinking and can significantly affect a child’s nutritional status, which is already compromised due to the disease.
Additionally, dysphagia can increase the risk of aspiration – the inhalation of food or drink into the lungs. This can lead to severe lung infections like pneumonia, further complicating the health status of cystinosis patients.
Difficulty swallowing, while seemingly insignificant initially, can pose serious health risks for cystinosis patients. Early identification and management of this symptom are crucial for maintaining a good quality of life for those living with this condition. (3)
