Patients living with: Mucolipidosis II, II/III, III Alpha/Beta

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 22 Ages: 1 to 36

27% Male
59% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

56% 2 - 6 times a year
33% 7 - 11 times a year

Major episodes of care

been admitted to hospital
36% been admitted to hospital
had surgery
36% had surgery
been to the ER
27% been to the ER

A combination of treatments

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Prescription medication 44% Over-the-counter supplements, vitamins, herbs, remedies 28% Medical therapy 17%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Growth delay
  • Frequent infections

Average age at diagnosis

Average Age at Diagnosis
3 Year(s) old
<1 8
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • Genetic TestingGenetic Testing
  • X-ray(s)X-ray(s)
  • BiopsyBiopsy
  • Physical examinationPhysical examination

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Genetics
  • Pediatrics
  • Other type of doctor or healthcare provider

Patients everywhere are eager to help find better treatments

Better Treatments

82% want to be contacted about trials

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