Patients living with: LCHAD

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 15 Ages: 3 to 24

Male
47% Male
Female
53% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 2 - 6 times a year
50% 7 - 11 times a year

Major episodes of care

been admitted to hospital
45% been admitted to hospital
been to the ER
45% been to the ER
had surgery
10% had surgery

A combination of treatments

image description
Medical foods 33% Special diet/nutrition 33% Over-the-counter supplements, vitamins, herbs, remedies 17%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • No symptoms
  • Abnormal laboratory findings
  • Change in activity levels

Average age at diagnosis

Average Age at Diagnosis
1 Year(s) old
<1 12
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Newborn screening Newborn screening
  • Medical historyMedical history
  • UnsureUnsure

Different types of tests

Different Types of Tests
6

Diagnosing specialty

  • Genetics
  • Metabolism
  • Neonatology

Patients everywhere are eager to help find better treatments

Better Treatments

93% want to be contacted about trials

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