Patients living with: CPT 1&2

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 16 Ages: 2 to >60

Male
38% Male
Female
63% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 1 - 3 times per month
50% 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
7% had surgery

A combination of treatments

image description
Over-the-counter supplements, vitamins, herbs, remedies 33% Medical foods 17% None 17%

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

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

Different types of tests

Different Types of Tests
10

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

88% want to be contacted about trials

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