AN HPP DIAGNOSIS IN CHILDREN

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What do I do if I suspect something’s not right with my child?”

For babies and toddlers, “failure to thrive” is a common first warning sign in the journey with HPP. But a simple blood test for low alkaline phosphatase (ALP) could hold the answers and provide your family some clarity.

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Elizabeth and her son, Josiah, living with hpp

Onset of HPP

in-utero

Perinatal HPP

HPP in utero or at birth, otherwise known as “perinatal HPP,” is very serious. It’s marked by poor bone formation that can be detected as early as 13 weeks gestation, as well as skeletal dysplasia, which can cause respiratory problems. For these reasons, a swift diagnosis at this stage is key.

But how do you go about getting a diagnosis?

Prenatal diagnosis relies on magnetic resonance imaging (MRI) and cross-sectional imaging modalities.

Infantile

Infantile HPP

HPP after birth to six months, otherwise known as “infantile HPP,” occurs in infants presenting prior to six months of age. It can also be a life-threatening illness, and symptoms include issues with feeding, weight gain, or other developmental challenges. It’s important to receive the proper diagnosis. In order to diagnose an infant, a whole-body radiograph of the infant may be needed. The radiographs will identify different views of the infant and note any abnormalities.

Juvenile

Childhood HPP

“Childhood HPP” manifests six months after birth or later. Symptoms include muscle and joint pain and abnormal bone and skull development. Additionally, children can lose their teeth painlessly and prematurely with the root intact (before age five). Persistently low ALP could be the key to an HPP diagnosis. If your child has been experiencing symptoms of HPP, ask the pediatrician for a blood test to evaluate ALP levels.

Track Symptoms
 
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It’s very important to push for answers when your child has HPP because you need to know the best ways to support your child."

ELIZABETH, MOTHER TO JOSIAH, LIVING WITH HPP

Watch Elizabeth’s video to see how she and her family navigated their son’s HPP diagnosis.

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Getting Help for HPP

Hypophosphatasia (HPP) in children and adolescents can have a lifelong impact.

The concerns of having a child who has HPP can feel overwhelming, but you can help them by getting support. As you start along the path, find the support available for you and your family.

Find Support
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