Patients living with: (PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 11 Ages: 1 to 40

36% Male
64% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 1 - 3 times per month
50% 2 - 6 times a year

Major episodes of care

been admitted to hospital
48% been admitted to hospital
been to the ER
39% been to the ER
had surgery
13% had surgery

A combination of treatments

image description
Medical foods 29% Over-the-counter supplements, vitamins, herbs, remedies 29% Special diet/nutrition 29%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Changes in appetite
  • Fatigue
  • Other

Average age at diagnosis

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

Extensive testing

  • Blood testsBlood tests
  • EKG (electrocardiogram, examines heart rhythm)EKG (electrocardiogram, examines heart rhythm)
  • Genetic TestingGenetic Testing
  • Newborn screening Newborn screening
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Metabolism
  • Genetics
  • Neurology

Patients everywhere are eager to help find better treatments

Better Treatments

91% want to be contacted about trials

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