Patients living with: KAT6A Mutation

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 15 Ages: 8 to 40

Male
33% Male
Female
60% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

40% 1 or more times per week
40% 2 - 6 times a year

Major episodes of care

been admitted to hospital
44% been admitted to hospital
had surgery
31% had surgery
been to the ER
25% been to the ER

A combination of treatments

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Over-the-counter supplements, vitamins, herbs, remedies 30% None 20% Prescription medication 20%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Gastrointestinal problems
  • Other

Average age at diagnosis

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

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Physical examinationPhysical examination
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • Family historyFamily history

Different types of tests

Different Types of Tests
16

Diagnosing specialty

  • Genetics

Patients everywhere are eager to help find better treatments

Better Treatments

93% want to be contacted about trials

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