Patients living with: MPS IIIC Sanfilippo C Syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 55 Ages: 3 to 32

36% Male
62% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

75% 2 - 6 times a year
17% 7 - 11 times a year

Major episodes of care

been admitted to hospital
44% been admitted to hospital
been to the ER
30% been to the ER
had surgery
26% had surgery

A combination of treatments

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Prescription medication 35% Over-the-counter supplements, vitamins, herbs, remedies 20% Medical foods 15%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Behavior problems
  • Developmental delays
  • Changes in mental status

Average age at diagnosis

Average Age at Diagnosis
6 Year(s) old
<1 24
Youngest AGE RANGE Oldest

Extensive testing

  • Urine testsUrine tests
  • Blood testsBlood tests
  • Genetic TestingGenetic Testing
  • BiopsyBiopsy
  • Psychological testingPsychological testing

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

95% want to be contacted about trials

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