Patients living with: MPS IIIA Sanfilippo A Syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 243 Ages: 1 to >60

48% Male
49% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 2 - 6 times a year
23% 7 - 11 times a year

Major episodes of care

been admitted to hospital
39% been admitted to hospital
been to the ER
34% been to the ER
had surgery
27% had surgery

A combination of treatments

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Prescription medication 31% Over-the-counter supplements, vitamins, herbs, remedies 28% Special diet/nutrition 18%

Getting diagnosed

Getting diagnosed

Initial symptoms

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

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
<1 22
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • Urine testsUrine tests
  • Genetic TestingGenetic Testing
  • BiopsyBiopsy

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

89% want to be contacted about trials

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