The Emotional Aspects of Hypophosphatasia: A Guide for Families

Hypophosphatasia(HPP) is a rare genetic condition that interferes with the development of bones and teeth, which can lead to bones that are too soft. Some of the most common symptoms are bone and joint pain, fractures, abnormal bone and teeth development, and tooth loss.

The condition is caused by a genetic variant, and depending on the way in which HPP is inherited, each family member can have very different symptoms, ranging from mild to severe. The symptoms may manifest at different points of life, from birth through adulthood, according to theNational Organization for Rare Disorders(NORD). This can add layers of stress and uncertainty.

The mildest form of the disease, called odontohypophosphatasia, affects only the teeth (abnormal tooth development and premature tooth loss). In severe cases, life-threatening complications can develop, including respiratory problems and an inability to eat or gain weight, which is more common in infants, according to theU.S. National Library of Medicine.

Until recently, treatment options were basically nonexistent: Although nonsteroidal anti-inflammatories (NSAIDs)可以采取管理疼痛,也可以引起complications if used too much or for too long. In 2015 the U.S. Food & Drug Administration approved an enzyme replacement therapy treatment for use in HPP, but only for those who show symptoms in childhood. Enzyme replacement therapy can be extremely expensive, and fewer insurance plans — especially for small companies with few employees — are willing to cover it. Because of this, families affected by HPP can find themselves in financial strain while seeking health coverage and treatment.

The Emotional Impact of HPP

The hereditary nature of HPP can lead to some complex emotions for parents of children with HPP. “For all genetic disorders, I think we do see this risk for one or both parents to feel like it’s somehow their fault, because they’ve perhaps passed down this gene to their child,” saysJill Simmons, MD, apediatricianand professor of pediatrics in the division of pediatric endocrinology and diabetes at Vanderbilt University Medical Center (VUMC) in Nashville, Tennessee. While it’s obviously not their fault, “We do see a fair amount of that sense of guilt,” she notes.

For parents who also have HPP, the emotional burden can be even heavier. “There’s a lot of fear,” saysKathryn Dahir, MD, a physician and professor of medicine in the division of diabetes and endocrinology at VUMC. “For a lot of parents who themselves have the disorder, they look at what they may have experienced in their lifetime and worry that it will be just as bad — or perhaps even worse — for their children.”

For individuals with the condition,anxiety and depressionare common. “People with rare diseases — and often caregivers — are more likely to suffer from higher levels of anxiety, stress, and depression,” says Deborah Fowler, president and founder ofSoft Bones: The U.S. Hypophosphatasia Foundation,它提供es information, education, and support for people with HPP and their families. (Fowler’s son has HPP.)

Plus, chronic pain, which can be a symptom of HPP, is itself linked to depression. In fact, astudy published in June 2017 in the journalNeural Plasticityfound that up to 85 percent of people with chronic pain also have depression.

Caregiving for a Child With HPP

On top of the usual stresses of parenting, being a caregiver for a child with HPP can pose additional demands. As mentioned previously, infants with HPP may have trouble eating and gaining weight. They can also have an abnormally shaped chest, which can contribute to breathing problems, and may have high levels of calcium in their blood, which can cause repeated vomiting and kidney problems.

In older children, premature loss of baby teeth is common, as is delayed walking, bowed legs, knock-knees — knees that bend inward toward each other, even when the feet are apart — enlarged wrist and ankle joints, abnormal skull shape, and in some cases, bone and joint pain, according to NORD.

While some symptoms, such as mobility issues that make it necessary to use a wheelchair or other device, can make the disorder visible, other symptoms may not be obvious. For instance, HPP can cause severe fatigue in kids, resulting in missing a significant amount of school. Astudy published in February 2019 in the journalOsteoporosis Internationalfound that, of 82 patients with HPP (65 of whom developed HPP under age 18), 66 percent experienced fatigue, 61 percent had headaches, and 51 percent experienced sleep problems. If a child with HPP doesn’t have any outward symptoms, their teachers and other caregivers may not recognize that they have a genetic disorder.

Deborah Ayres and her daughter, Avalon, both have HPP. Ayres says that while Avalon’s first school was very understanding about her challenges, her second school was not. This might have been in part because Avalon was in a wheelchair at her first school, but once she started enzyme replacement therapy, she no longer needed a wheelchair. So her second school didn’t see the physical manifestations of her HPP.

“They kind of treated us like we were making it up and that she really didn’t need extra help,” says Ayres, who is president ofThe Avalon Foundation, a nonprofit organization that supports children with rare diseases.

Caregivers may also have to manage going to multiple doctor’s appointments, helping kids take treatment, helping coordinate missed homework, and taking care of kids when they feel fatigued. It can be hard for families to maintain social ties with all of these stresses and obligations.

Coping Tips That Can Help

Because HPP can be so different for each person, along with their caregivers, there’s no one-size-fits-all approach to emotional wellness. That said, these strategies may help.

• Lean on your care team.Your care team — or your child’s — is a great place to start getting support and information. This can include a mix of the following: pediatrician, endocrinologist, geneticist,rheumatologist, orthopedic surgeon, periodontist or oral surgeon, genetic counselor, nephrologist, andpain managementspecialist. “Typically, an endocrinologist or a geneticist serves as the ‘quarterback’ for the multidisciplinary specialists,” Fowler says.
• Meet other families affected by HPP.“One of the best ways to cope with this stress is to meet other people and families who have HPP to learn from one another. Having a rare disease can feel very lonely, and connecting with others who have been down a similar path is validating,” says Fowler.
• Join a support group — if it’s helpful.“Some people take a lot of comfort in support groups, but sometimes people feel increased stress from support groups, because they get the sense that they aren’t doing as well as other people are doing,” says Dr. Dahir. Your own family and friends can offer support as well.
• Check out reputable resources.Soft Bones has aresource librarywith HPP information developed by experts, as well as articles about the condition from published scientific journals. TheMAGIC Foundationis a nonprofit focused on support services for families affected by conditions that affect a child’s growth, including HPP. Other resources include theGenetic and Rare Diseases Information Centerand NORD.
• Talk to a counselor with experience in chronic health issues.While there are no mental health professionals who deal specifically with HPP, there is a certification for therapists who specialize in treating those with chronic disease, called the MedicalFamily Therapy(MedFT) certificate. Ask your healthcare team for a recommendation on a qualified provider.

Dealing with the emotions of HPP is different for everyone, but doing so can help individuals and families live more fulfilling lives. “Whether you have a rare disease, or you have alearning disability, you know, we all have a story,” says Ayres. “So how do we allow our stories to make us stronger, to build ourresilience,以帮助更好的人,更compassionate?”