Patients living with: MPS I Hurler-Scheie Syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 37 Ages: 5 to 42

Male
51% Male
Female
43% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

43% 2 - 6 times a year
29% 1 or more times per week

Major episodes of care

had surgery
38% had surgery
been admitted to hospital
33% been admitted to hospital
been to the ER
29% been to the ER

A combination of treatments

image description
Medical therapy 39% Prescription medication 28% Over-the-counter supplements, vitamins, herbs, remedies 22%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Other
  • Frequent infections
  • Growth delay

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
<1 21
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • Urine testsUrine tests
  • Genetic TestingGenetic Testing
  • Physical examinationPhysical examination
  • Medical historyMedical history

Different types of tests

Different Types of Tests
15

Diagnosing specialty

  • Genetics
  • Neurology
  • Ophthalmology

Patients everywhere are eager to help find better treatments

Better Treatments

81% want to be contacted about trials

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