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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Meet Ella

Ella was diagnosed with ENPP1 Deficiency while still in utero at 30 weeks. When she was born three weeks later, doctors were prepared to handle the additional medical needs she required. Ella spent three months in the neonatal intensive care unit (NICU) and, with the help of her parents, has been monitoring her ENPP1 Deficiency ever since.

her Story

Meet Levi

Levi was born with GACI Type 1, or ENPP1 Deficiency. Tragically, the disease was not detected until after he passed away from cardiac arrest at just three months old. His mother, Sharon, continues to share Levi’s story and emphasize the importance of screening for genetic conditions like ENPP1 Deficiency and obtaining medical intervention as soon as possible.

hIS Story

Meet Sienna

Sienna came into the world “fierce and ready,” according to her mother. There was no indication of any health issues. But everything quickly changed when Sienna suffered a stroke at just three months of age. Soon after that, she was diagnosed with generalized arterial calcification of infancy (GACI) caused by ABCC6 Deficiency, also known as GACI Type 2.

her Story

Meet Dev

A few hours after Dev was born, he almost went into cardiac arrest. He was rushed to a nearby children’s hospital where he was diagnosed with GACI Type 1, also known as ENPP1 Deficiency. Tragically ,he passed away just months after he was born. His parents, Mandeep and Inder, now tell his story to honor him and raise awareness of GACI.

his Story

Meet Janine

Janine was born with ENPP1 Deficiency and faced many challenges throughout her childhood due to disease. Now as an adult, she has found ways to adapt and persevere in spite of continued health complications, including bone and nerve pain and limited range of movement. She is committed to raising awareness of the disease so that patients have more resources and, one day, approved treatments.

her Story