Importance of early diagnosis in CTX
With early diagnosis and the right care, people with CTX can avoid serious disability
Early diagnosis is the most important way of helping people with CTX. Doctors are able to prevent additional damage, but they cannot always reverse damage that has occurred—especially neurological damage. Current average age at diagnosis is about 35. By this time, neurological problems are severe, disabling, and often permanent. However, if patients are diagnosed early, most can avoid serious disability.
CTX can be difficult to identify
CTX is quite rare, but there are probably many people with CTX who do not know they have it. There are several reasons for this.
- Most doctors have never seen a case of CTX
Only around 425 cases of CTX have been identified and published. Most doctors will not have seen a patient with CTX.
- CTX varies from patient to patient
Although most people with CTX will have several of the key signs and symptoms of CTX, they are more severe in some people than in others. Also not everybody experiences all 4 key signs and symptoms.
- Most people with CTX see several different specialist doctors
Because CTX affects different parts of the body several different doctors may be involved. Doctors and patients may not mention a symptom that seems unrelated to their current problem. For example, people usually don’t think of telling their eye doctor about diarrhea!