Patients living with: CPT 1&2

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 34 Ages: 2 to >60

Male
41% Male
Female
59% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

40% 1 - 3 times per month
40% One time a year

Major episodes of care

been admitted to hospital
47% been admitted to hospital
been to the ER
47% been to the ER
had surgery
6% had surgery

A combination of treatments

image description
Over-the-counter supplements, vitamins, herbs, remedies 29% Prescription medication 21% Special diet/nutrition 21%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Change in activity levels
  • Fatigue
  • Malaise

Average age at diagnosis

Average Age at Diagnosis
24 Year(s) old
<1 57
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • BiopsyBiopsy
  • Physical examinationPhysical examination
  • Urine testsUrine tests

Different types of tests

Different Types of Tests
11

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

88% want to be contacted about trials

Brought to you by:

Want to learn more?

Explore Directory Contact Us