Get the support you or your child need
There is more to living with hypophosphatasia (HPP) than managing fractures or other symptoms. Living every day with a lifelong disease can be hard. Symptoms may affect your ability to do daily activities or can make going to work difficult. Friends and family may not fully understand what you are going through. And it is normal to feel fatigue, stress, and sadness before and after diagnosis.1,2
There are advocacy organisations and resources to support people with HPP and their caregivers. Below, you can find other ideas to help create a more balanced life. Sometimes making small adjustments can make a big difference.
Advocate yourself or your child
Connect with a community
Many people with rare diseases join advocacy organisations. Others visit online forums or even Facebook groups to find support. By reaching out to others, you can connect with people who understand, trade tips, and learn about how to cope.
Give yourself some space
When you have HPP, standing all day or being active can be hard and tiring. The symptoms you are feeling are real, and part of living with HPP is discovering how much your body can do. Once you have found your own boundaries, it is OK to honour them. Whether it is an additional work project, an outing with friends, or even a family commitment—you can say no if you are not feeling up to it. Give yourself some space and do what you need to take care of yourself.
Taking care of signs and symptoms of HPP.
Living with a lifelong disease such as HPP can be overwhelming. There are several options you can consider to take care of yourself and minimise the impact HPP has on your life, including
Working in collaboration with your doctors
When you have a rare, lifelong disease such as HPP, it is important for you to feel comfortable with your doctors. People with HPP often see multiple doctors to help manage their disease and their symptoms. Your HPP care team may include your primary care doctor as well as different specialists depending on the symptoms you have. Specialists may include
- An endocrinologist (for hormone and growth issues)
- A rheumatologist (for joint issues)
- An orthopaedist or orthopaedic surgeon (for bone issues)
- A nephrologist (for kidney issues)
- A geneticist (to help people with HPP make decisions about family planning)
It is essential to ask doctors all your important questions for you to make the most of your HPP care team. To manage HPP, a doctor will
- Be knowledgeable about HPP or be willing to research HPP
- Ask questions about your symptoms and disease history, and really listen to your answers
- Ask about your concerns and be open to you bringing in information you think may help
- Answer your questions in a way you can understand
- Be willing to speak with your family to help them better understand HPP and what you may be experiencing
Taking care of symptoms
There are ways in which doctors can help address the many signs and symptoms people with HPP experience. Some of the more common options are listed below. Many other options exist, though, so be sure to speak with your doctors about what specifically is happening with you.
Some things that can be done to address common symptoms:4,5
- Taking care of pain. Doctors may give you different medicines based on pain level. Pain specialists can also help figure out the right combination of therapies
- Strengthening bones. Low-impact, doctor-supervised exercise may improve bone health. Specialised surgery for people with HPP can help heal a fracture or bone that has not grown as it should
- Getting around. Braces, splints, canes, walkers, and wheelchairs can all help
Get the support you need
Living with a lifelong condition such as HPP can take an emotional toll on individuals and families. Addressing psychological health—in addition to physical health—is important. Your doctor may be able to recommend a suitable counsellor or support group in your area. In addition, online communities can be very valuable in providing support for those living with HPP.
“It is called hypophosphatasia”
How to talk about HPP and what it means for you.
Some people are amazing at offering support when something big happens—such as being diagnosed with a lifelong disease. Some people know just what to say and do.
But other people—even those who love you dearly— may not understand or may not know what to say. At best, they may offer advice that is not helpful. At worst, they can say things that are upsetting, such as
- “But you don’t look sick.”
- “You should try this new vitamin—it can’t hurt!”
- “I know just what you’re going through.” (Though they’ve never experienced anything like HPP)
These sorts of comments may be hard to hear—they may make you feel isolated and misunderstood. You know your friends and family love you—and that colleagues and friends are trying to help—but it can feel like no one really understands what you are experiencing.
What to do?
Part of being your own advocate—of taking charge of your own health—is letting people know how you are feeling and what you need—what is helpful and what is not. Many of these people want to be there for you. They just do not know how.
When speaking with family and friends
- Be honest about HPP: what it is and what it might mean for you. Because HPP is rare, many people know nothing about it. It can be helpful to tell those you love about the disease and about your symptoms4
- Speak with your family about the fact that HPP is a genetic disorder, meaning it is passed down from your parents. It is possible that no one else in your family (parents and siblings, aunts, uncles, and cousins) has been diagnosed with HPP. But they could have it. That is why it is good for them to know more about it, what causes it, and common symptoms. That way, if they have or develop any signs or symptoms of the disease, they can tell their doctor4
- Let people know what you need. It depends on the situation, but it may be good to let people know if their comments or actions are hurtful. Or, on the flip side, if there are things they can say or do that would be helpful
When speaking with your child's school and teachers
- Make a health plan. HPP is a rare disease, so the people at your child’s school may not know anything about it. You can provide a written document that outlines your child’s needs. Include things such as
- Your child’s specific needs
- Medicines or any procedures required during the school day
- Possible problems that could arise and how to handle them
- Instructions on whom to contact in case of an emergency as well as your doctor’s name and number
- Tell the school about your child’s day-to-day needs. HPP can make walking difficult, so your son or daughter may need extra time to travel from class to class—or they might need to participate in alternative activities during breaktime and gym. You can make suggestions such as these and work with the school staff to figure out a plan for your child’s day-to-day activities
- You can help make your child’s school a safe place for them to learn. Have open and honest conversations about HPP with the school staff and teachers. You may also want to speak with your child’s teachers about if and how they should explain HPP to other children. What you share about HPP is a personal decision, but educating your child’s school staff and teachers may help school remain a safe place to learn and grow
Working with Your Doctor
YOU are an important part of your HPP care team.
For people with HPP (or people who think they may have HPP), finding your HPP care team is incredibly important. But just as important is the relationship you have with your doctors—more specifically: how active you are in your care.
People who get the most out of their healthcare are those whose relationship with their doctors is a two-way street. Doctors, of course, have thoughts, advice, and recommendations for you. But you too can bring something to the table.
Here are some specific ideas for how you can best be an important part of your healthcare team.
If you or your child have been diagnosed with HPP
If you or your child have been diagnosed with HPP, do not forget to ask your doctor:
- What can you tell me about HPP?
- Are there serious signs and symptoms that I should be aware of?
- What can we do to manage my current signs and symptoms?
- Do you have other recommendations for me?
If you think you or your child have HPP, but have not been diagnosed
If you think you or your child have HPP, but have not been diagnosed, do not forget to ask:
- What can you tell me about HPP?
- Can you tell me about the symptoms I could experience in my bones, teeth, muscles, joints, lungs, brain, and kidneys? (You can bring your list of your signs and symptoms and the list of common misdiagnoses)
- Given my signs and symptoms, do you think I could have HPP? If not, why not?
- Can we take a blood test for alkaline phosphatase (ALP) to see if mine is low?
- (Once the results are in) Is my ALP low for someone of my age and gender?
Getting the most out of medical visits
- Learn as much as you can about HPP
- Don’t be shy about sharing information with your doctor. You can bring questions and information to your office visits
- Keep a record of medicines you take, test results or surgeries you may have had
- Tell your doctor about any new symptoms since your last visit, including the type, the date, and where on your body they occurred
- Bring a list of questions. Remember, HPP is complex—it is OK to have the doctor clarify something if you do not understand
- Listen closely and take notes. It may also help to bring a family member with you
- If your doctor is unfamiliar with HPP, ask your doctor to get in touch with specialists in the area who may know more