Patients living with: MPS I Scheie Syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 10 Ages: 10 to 51

30% Male
70% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

75% 2 - 6 times a year
25% 7 - 11 times a year

Major episodes of care

been admitted to hospital
38% been admitted to hospital
had surgery
38% had surgery
been to the ER
23% been to the ER

A combination of treatments

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Medical therapy 38% Prescription medication 38% Over-the-counter supplements, vitamins, herbs, remedies 25%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Other
  • Abnormal bleeding
  • Change in bowel and/or bladder habits

Average age at diagnosis

Average Age at Diagnosis
9 Year(s) old
2 19
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • BiopsyBiopsy
  • CT scanCT scan
  • Genetic TestingGenetic Testing
  • Physical examinationPhysical examination

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Ophthalmology
  • Adolescent Medicine
  • Child and Adolescent Psychiatry

Patients everywhere are eager to help find better treatments

Better Treatments

90% want to be contacted about trials

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