Patients living with: HIST1H1E Syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 50 Ages: 1 to >60

Male
46% Male
Female
42% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

35% 2 - 6 times a year
30% 7 - 11 times a year

Major episodes of care

been admitted to hospital
38% been admitted to hospital
had surgery
32% had surgery
been to the ER
29% been to the ER

A combination of treatments

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Prescription medication 29% None 25% Over-the-counter supplements, vitamins, herbs, remedies 21%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Other
  • Gastrointestinal problems

Average age at diagnosis

Average Age at Diagnosis
7 Year(s) old
<1 18
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • MRIMRI
  • Blood testsBlood tests
  • Physical examinationPhysical examination
  • CT scanCT scan

Different types of tests

Different Types of Tests
16

Diagnosing specialty

  • Genetics
  • Neurology

Patients everywhere are eager to help find better treatments

Better Treatments

84% want to be contacted about trials

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