Patients living with: MPS I Hurler-Scheie Syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 32 Ages: 7 to 36

53% Male
41% 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
37% had surgery
been admitted to hospital
32% been admitted to hospital
been to the ER
32% 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
  • Changes in senses

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
  • EKG (electrocardiogram, examines heart rhythm)EKG (electrocardiogram, examines heart rhythm)

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Genetics
  • Neurology
  • Ophthalmology

Patients everywhere are eager to help find better treatments

Better Treatments

78% want to be contacted about trials

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