The benefits of early diagnosis of CTX
Learn how a curious eye doctor identified a case of CTX in a
If you suspect that you or your child may have CTX, talk to your doctor. Show your doctor this website and talk about all the symptoms that are worrying you. If you are the parent of a child who may have CTX, talking to the pediatrician, gastroenterologist, or eye doctor (if he/she has been treated for cataracts) would be a good place to start. For a teenager or adult you may want to talk to an internist or neurologist who is familiar with the symptoms.
Your doctor may be able to rule out CTX, but if not he/she may recommend further testing.
There are several blood tests to identify CTX. One such test is a simple dried blood spot test where your physician takes a drop of blood from your finger. The CTX dried blood spot test measures a substance in the blood that builds up in CTX patients. If that substance is higher than normal, the patient likely has CTX.
If blood tests are abnormal, genetic testing may be done to confirm CTX. Because CTX is a genetic disease, it can run in families, so family members of people with confirmed CTX may also benefit from testing to see if they or their children are at risk.
Because CTX has many signs and symptoms many different kinds of doctors are involved. Metabolic specialists, geneticists, dermatologists, gastroenterologists, lipidologists, endocrinologists, and internists have all provided excellent care for people with CTX.