Patients living with: Confirmed CDG, Type Tested but Unknown/Unspecified

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 27 Ages: 5 to 59

Male
59% Male
Female
26% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

67% 1 - 3 times per month
33% Do not see a doctor or healthcare provider for this condition

Major episodes of care

been admitted to hospital
53% been admitted to hospital
been to the ER
40% been to the ER
had surgery
7% had surgery

A combination of treatments

image description
Prescription medication 29% Special diet/nutrition 29% Medical therapy 14%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Changes in appetite
  • Gastrointestinal problems

Average age at diagnosis

Average Age at Diagnosis
9 Year(s) old
1 41
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • BiopsyBiopsy
  • MRIMRI

Different types of tests

Different Types of Tests
16

Diagnosing specialty

  • Genetics
  • Did not see a doctor or healthcare provider for this condition
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

85% want to be contacted about trials

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