Patients & Families

Real People.
Real Stories.

People who suffer from diseases of abnormal mineralization face many challenges. Some of these brave patients and families are dedicated to raising awareness and explaining the urgent need for an approved treatment. Find their stories below, along with other important patient resources.  

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The Genetic Testing Process

Consider getting tested for ENPP1 Deficiency if you’ve experienced the symptoms described or have been diagnosed with GACI and/or ARHR2

Individuals who meet the eligibility criteria for the testing program can receive a no-cost, third-party genetic test to determine if they have the condition or are a carrier for ENPP1 Deficiency. Those with confirmed ENPP1 status may be eligible to participate in studies to help researchers better understand and treat the condition, including the ENPP1 Deficiency Prospective Observational Study previously mentioned.

Early symptoms

Heart failure, respiratory problems, hypertension, heart attack, neurological problems (stroke, seizure)

Symptoms in children

Skeletal deformities, short stature, severe bone pain, bone fractures, hearing loss, neurological problems (stroke, seizure)

Symptoms in adults

Severe bone and joint pain, fatigue, muscle weakness, bone fractures, loss of mobility, hypertension

Download Diagnostic Pathway

Your HCP can contact PreventionGenetics at 1‑715‑387‑0484 and/or email
or visit this website.