Patients living with: MPS IIIC Sanfilippo C Syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 81 Ages: 6 to 39

Male
40% Male
Female
54% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

67% 2 - 6 times a year
14% 7 - 11 times a year

Major episodes of care

been admitted to hospital
41% been admitted to hospital
been to the ER
29% been to the ER
had surgery
29% had surgery

A combination of treatments

image description
Prescription medication 34% Over-the-counter supplements, vitamins, herbs, remedies 26% None 14%

Getting diagnosed

Getting diagnosed

Initial symptoms

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

Average age at diagnosis

Average Age at Diagnosis
7 Year(s) old
<1 34
Youngest AGE RANGE Oldest

Extensive testing

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

Different types of tests

Different Types of Tests
16

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

93% want to be contacted about trials

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