HPP REAL STORIES

Meet Adelyn

Diagnosed with HPP at 2 days old

When Adelyn’s mother, Jennie, first found out she was pregnant with her third child, she remembers thinking, “I don’t care if it’s a boy or a girl, as long as it’s healthy.” And sure enough, Jennie had a healthy pregnancy with no signs that anything was wrong.

Adelyn, diagnosed with HPP at 2 days old

And then, Adelyn was born, and she was very unhealthy.

“When she took her first breath, her whole chest cavity collapsed. She was blue in color. Her limbs were going the wrong way. It was really terrifying,” said Adelyn’s father, Joe.

Adelyn’s doctor took X-rays, which came back showing limited bone growth, or, as Joe says, it was “similar to a jigsaw puzzle with all the pieces missing.”

Adelyn’s doctors thought she could have osteogenesis imperfecta, a type of dwarfism, or hypophosphatasia (HPP). After several days involving many tests, including one that indicated her alkaline phosphatase level was zero, they determined that she had HPP, an ultra-rare, genetic, potentially life-threatening metabolic condition that prevents minerals such as calcium and phosphate from being properly deposited in bones.1-4

Joe and Jennie were told that there were no approved or effective treatment options, but that there was a clinical trial involving an investigational enzyme replacement therapy called STRENSIQ® (asfotase alfa).* Joe and Jennie didn’t have to think twice about enrolling Adelyn.

Adelyn, diagnosed with HPP at 2 days old, with her father Adelyn, diagnosed with HPP at 2 days old, with her mother

At 12 days old, Adelyn received her first treatment with STRENSIQ. And after a few months of investigational treatment, Adelyn was able to return home.

In October 2015, STRENSIQ received approval by the U.S. Food and Drug Administration. Adelyn transitioned out of the clinical trial and continues to receive STRENSIQ. She recently celebrated her first birthday and dazzles everyone with her ever-present smile.

As Joe says, “When I hold Adelyn now, it’s like holding the sun – a ball of warmth. She just looks at you and warms your heart. I think, while I’m looking at her, that, ‘You’re amazing. You’re a miracle. You probably shouldn’t be with us, but here you sit, smiling hugely at me and making my life better each day.’”

*The results from use of STRENSIQ may vary.


IMPORTANT SAFETY INFORMATION

What is Strensiq® (asfotase alfa)?
Strensiq is a prescription medicine used to treat people with perinatal/infantile- and juvenile-onset hypophosphatasia (HPP).

What are the possible side effects of Strensiq?
Strensiq may cause serious side effects, including

  • Serious allergic (hypersensitivity) reactions. Serious allergic reactions have happened in some people who use Strensiq. Stop using Strensiq and go to the nearest hospital emergency room right away if you have any of the signs and symptoms of a serious allergic reaction, including
    • Difficulty breathing
    • Swelling of your eyes, lips, or tongue
    • Hives
    • Feeling faint
    • Nausea or vomiting
    • Dizziness
    • Itching of your lips, tongue, or throat
    • Choking sensation
  • Skin thickening or pits at the injection site (lipodystrophy). Lipodystrophy at the injection site has happened several months after using Strensiq
  • Calcium buildup in your eyes and kidneys. Your healthcare provider should check your eyes and kidneys while you use Strensiq

The most common side effects of Strensiq include local skin injection-site reactions (including red skin patches, bruising, color change, pain, itching, thinning, swelling, pits, and bumps) and calcium buildup in your eyes and kidneys.

Tell your doctor if you are pregnant or plan to become pregnant, or are breastfeeding or plan to breastfeed.

These are not all of the possible side effects of Strensiq. For more information, ask your healthcare provider or pharmacist. Call your healthcare provider for medical advice about side effects. You may report side effects to the US Food and Drug Administration at 1-800-FDA-1088.

References:

  1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  2. Fraser D. Hypophosphatasia. Am J Med. 1957;22(5):730-746.
  3. Whyte MP, Simmons JH, Moseley S, et al. Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial. Lancet Diabetes Endocrinol. 2019;7(2):93-105.
  4. Whyte MP, Greenberg CR, Salman NJ, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913.

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