Living with Hypophosphatasia

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Given its wide-ranging and sometimes very severe impact, a diagnosis of the rare inherited bone disease hypophosphatasia (HPP) can feel devastating. Its signs and symptoms vary, but especially in cases that arise while still in the womb or in infancy, this disorder can cause lifelong pain, mobility, and functional problems.

HPP affects the development of bones and teeth. It is a metabolic disease that results from low levels of an enzyme called alkaline phosphatase. Individual outcomes vary, but since there is no cure for it, managing HPP is a complex, long-term, and often evolving process.

Those with serious cases of HPP face not only significant medical problems that require lifelong treatment, but they also experience higher rates of behavioral problems and diminished quality of life. Further, living with HPP can lead to social isolation and the need for accommodations in the home, at work, and at school. Therefore, developing coping strategies is essential.

That said, if you or a loved one has been diagnosed with HPP, there are a number of ways you can improve your well-being and create a supportive environment. Everything from physical therapy to individual and group counseling to lifestyle changes and finding support can help ease the burden of living with HPP.

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Emotional

All chronic, lifelong conditions have a significant mental impact, and HPP is no exception. Research has shown that children with the condition have higher rates of mood disorders, social problems, anxiety, and depression. These are associated with the chronic pain and interrupted sleep that often accompany this disorder, as well as difficulties socializing in the school environment.

Those living with disability also face stigma, or negative beliefs and judgments about their condition. This often leads to social avoidance and isolation, causing the patient to adopt these same attitudes. This increases the emotional challenges of managing HPP.

The following are practices that may help with the mental health burden of this chronic disorder:

  • Individualized counseling: In severe cases, especially when HPP arises in infancy, counseling is recommended for the whole family. Those living with the condition can benefit from individualized sessions with specialists to help with the lifelong challenges of this disability. Let your doctor know if you’re struggling.
  • Group sessions: For some with HPP, counselor- or therapist-led group sessions with others facing similar problems can really help unpack the emotional challenges. Group settings foster sharing of experiences and help patients feel less alone in the face of this condition.
  • Health and self-care: Boosting overall health by increasing exercise and improving diet and sleep—while stopping negative habits like smoking or drinking alcohol—can also help with depression, anxiety, and other issues. Activities like meditation and yoga may be especially beneficial.
  • Finding support: Talking with family and friends about what you’re going through can also help you manage difficult times and bring you emotional support. Since HPP is a genetic disorder, other family members may also be going through similar experiences. 

Especially in the face of a diagnosis, it’s perfectly normal to feel depressed and anxious. Keep track of how you’re feeling, and don’t be afraid to seek help.

Physical

Some cases of HPP significantly affect mobility and cause pain, inflammation, and a range of challenging symptoms. Treatment is often a group effort in which multiple specialists work with physical therapists to develop an individualized approach to the condition.

Alongside that effort are a number of additional ways to manage the condition, including the following:

Occupational Therapy

Occupational therapists create individualized treatment plans to help improve functioning and reduce pain in everyday activities. In repeat sessions—and along with exercises done at home—occupational therapy for HPP focuses on improving strength and body positioning, as well as developing motor skills. Adults with the condition who have experienced bone fractures may work with physical therapists during recovery.

Orthopedic Devices

Another means of managing HPP is using orthopedic devices to help with mobility and functioning. This includes devices like walkers, crutches, grabbers, and wheelchairs. Those that have stress fractures in the feet due to the condition may require orthotics, which are special inserts for shoes. Talk to your healthcare provider about devices and tools that can help.

Diet

A major factor in taking on chronic, lifelong conditions like HPP is diet. Successfully managing weight can reduce the risk of bone fractures associated with the condition. Individual recommendations vary based on level of activity and other factors. In general, however, expect to:

  • Emphasize fresh vegetables, fruit, and whole grains.
  • Steer clear of trans fats and saturated fats (as in red meat and dairy products), added sugars, salt, and alcohol.
  • Avoid supplements, such as calcium, magnesium, and vitamin D, unless advised by your doctor. While these can help people with other bone conditions, such as osteoporosis, they have no effect or can even cause harm in people with HPP.

Social

An additional means of living with HPP is to seek out and become part of the broader community of people going through chronic disabling conditions. Nowadays, it’s easier than ever to find others affected by HPP. Common approaches include:

  • Support groups: Regular meetings can provide a platform for sharing experiences, exchanging information, and offering support. They can also be a valuable form of social contact.   
  • Advocacy organizations: Organizations like the Soft Bones Foundation, the Genetic Disease Foundation, and the ADA National Network are great resources of information. They also work to raise awareness about conditions like HPP and promote accessibility and acceptance for those with it.   
  • Online communities: Social media sites like Facebook and Reddit help foster online communities of those with this condition. These platforms also can help you exchange experiences, swap information, or just interact with a worldwide network of likeminded, sympathetic individuals.
  • Help for caregivers: As care can be very complicated—with a stream of medications, appointments, and other accommodations to keep track of—parents or caregivers of those with HPP may also benefit from finding supportive online communities or local groups.   

Practical

When it comes to living with a significant physical disability, it’s also important to think about practical matters, like how to manage everything from day-to-day activities to school or work. Ensuring that spaces are accommodating and accessible—and that the right support is available—are essential aspects of managing HPP.

The following are practical matters to consider:

  • Education: According to the Individuals with Disabilities Education Act (IDEA), children with disabilities are entitled to special education services throughout their school years. Infants and toddlers under 2 years old are also eligible for early intervention services.
  • At work: The Americans with Disabilities Act (ADA) protects against discrimination in workplaces. Further, employers must provide reasonable accommodations for disabled workers.
  • Public spaces: The ADA also has established that public spaces and public transportation must take reasonable measures to remain accessible to people with physical challenges. Accommodations include ramps outside of buildings and on curbs and button-operated doors.   
  • Driving: Certain adaptations and orthotics can make driving a possibility for some people with HPP. Although it may not be possible for everyone, people with a disability are entitled to take a driver’s test. For appointments, if you can’t drive, and if family or friends aren’t available, ask your doctor to connect you with local medical transportation options.
  • At home: Making sure the home environment is adapted to life with HPP is essential. This may mean taking steps like installing railings or seats in baths and making kitchens and bedrooms wheelchair accessible, among others.

 

 

  

 

 

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10 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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