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Albie, one of our guiding stars

When Albie was born, his mom, Charlotte, said that he was “absolutely fine. Everything was fine for about two weeks.”
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Our medicines help people like Donnan

As a father of two young children, Donnan recalls being afraid of what the future would hold prior to his diagnosis.
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We innovate for Ruthie

Married with a newborn son, Ruthie was scared to learn that PNH was a life-threatening illness that at the time had no approved treatment.
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We give back for families like Evie's

At only three months old, Evie's parents were told that her case was severe and that there were no approved or effective treatment options.
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Liz is our inspiration

Although physical challenges required Liz, her husband, and their children to adjust their lives in many ways, she doesn't let her disease hold her back.
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Make a difference for families like Tristan's

Tristan's parents experienced a whirlwind of emotions and fear after learning their 5-year-old son had such a rare and serious disease.

HPP REAL STORIES

Meet Evie

Diagnosed with HPP at 2 weeks old

When an ultrasound revealed that Evie had extremely fragile and transparent bones, doctors told expectant parents John and Lindsey that it was not likely their baby girl would live long after birth. The hours that Evie’s parents expected to have with her turned into weeks, but the baby was gripped by seizures.

Then, a routine blood draw revealed that Evie had low alkaline phosphatase (ALP), which enabled them to diagnose her with hypophosphatasia (HPP)—a rare, genetic, life-threatening metabolic condition that prevents minerals such as calcium and phosphate from being properly deposited in bones.^1-3

Evie, diagnosed with HPP at 2 weeks old, riding a toy car

Evie, diagnosed with HPP at 2 weeks old, painting

Her parents were told that Evie’s case was very severe and that there were no approved or effective treatment options. At 3 months old, Evie was enrolled in a clinical trial to receive an investigational medicine, and she continues to receive treatment today.

Evie is, as her mother says, “writing the book on where we go from here. Her story gives other parents with special needs kids hope that they can be okay, and things can be good.”

References:

Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
Fraser D. Hypophosphatasia. Am J Med. 1957;22(5):730-746.
Whyte MP, Greenberg CR, Salman N, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913.

Meet Evie

Diagnosed with HPP at 2 weeks old

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