Importance of early testing

Genetic testing is important and can lead to an early CTX diagnosis. When you have a confirmed diagnosis, doctors can take the necessary steps to prevent additional damage. However, they cannot always reverse damage that has already happened — especially neurologic damage.

Currently, the average age of diagnosis of CTX is about 36 years.

By this time, neurologic problems are often severe, disabling, and permanent. However, if people with CTX are diagnosed early, many can avoid serious disability.

Average age of CTX diagnosis

Early treatment may help prevent serious health problems and potentially lead to better outcomes for people with CTX, which is why early testing is so important.

Why might it be difficult to get a CTX diagnosis early in life?

Most doctors have never seen a patient with CTX.

As this is rare genetic disorder in the general population, most doctors won’t ever have seen a patient diagnosed with CTX.

CTX symptoms are different from person to person, so no two patients with CTX will look alike.

Although most people with CTX will have several of the same signs and symptoms of CTX, the symptoms may be more severe in some people than in others. Also, not all people with CTX will experience the same signs and symptoms.

Most people with CTX see several different specialists.

Because CTX affects different parts of the body, several different doctors, or specialists, may be involved in a person’s care.
These doctors might not know all of the symptoms their patient has or has had.

Sometimes caregivers and patients do not tell their doctor about a symptom that seems unrelated to their current problem.

For example, people usually don’t think of telling their eye doctor about the symptom of diarrhea.

Getting tested for CTX

If you think you or your loved one may have CTX, here’s how you can advocate for testing.
Use the symptom checker and download the doctor discussion guide to help you explain these symptoms with a doctor.

Be prepared when speaking with a doctor.

Track current and past symptoms of CTX. Remember, every person experiences CTX differently.
Print and fill out the symptom checker and bring it to your doctor. It is important to share with the doctor what CTX is and all possible signs and symptoms.
- Ask your doctor if the symptoms could be caused by CTX.
- Your doctor can test you for CTX through a genetic panel for qualified patients.*

Click to Download

Mirum Pharmaceuticals and PreventionGenetics are offering two genetic tests for CTX (depending upon the individual’s symptoms and history) at no cost*,† to patients to help find the cause of early cataracts or movement disorders.

*Program may be canceled or changed at any time.

†Note that Mirum Pharmaceuticals cites the above-named external testing resource for information purposes only, and does not endorse or guarantee in any way the services or advice provided by them.

Which doctors should you talk to?

If you are the parent of a child who you think may have CTX, talking to the pediatrician, geneticist, or an eye doctor (if your child has been treated for cataracts in both eyes) would be a good place to start.
For a teenager or adult suspected of having CTX, you may want to talk to a geneticist or neurologist who is familiar with the symptoms.

Once a diagnosis for CTX is confirmed, other specialists may become involved in the care of you or your child. Depending on the different signs and symptoms, the following specialists may be necessary for proper care:

Metabolic specialists

Geneticists

Neurologists

Dermatologists

Gastroenterologists

Lipidologists

Endocrinologists

Internists

If you or a loved one could have CTX, talk to your doctor about getting a diagnosis. Mirum offers 2 different no-cost genetic panels* that can help confirm a CTX diagnosis. Your doctor can decide which panel is most appropriate.

Clickherefor Sponsored Genetic Testing

*Eligibility criteria apply