Rare Disease Education: Paget’s Disease

By Barby Ingle, PNN Columnist

One of my personal missions is to educate others on the rare diseases and conditions that cause chronic pain. This year I will be posting a series of monthly articles on 12 different rare and ultra-rare conditions.

According to the National Human Genome Research Institute, a rare condition is generally considered a disease when it affects fewer than 200,000 people in the United States. Just because a person has a rare disease does not mean that they are alone. Altogether, rare disease affects up to 30 million Americans.

There are about 7,000 rare diseases, but less than 5 percent of them have an FDA approved treatment option. I have seen some great improvements over the past few years in recognizing rare diseases and in developing new treatments.  

The first condition being looked at in this series is Paget’s disease of bone. I do not know anyone with this condition personally, but I thought it was a good place to start. My hope is you will recognize some of these symptoms and can pass them on to give someone hope, help and a place to start a conversation with their health providers.

Paget’s disease causes the body to generate new bone tissue faster than normal, resulting in bones that are softer, weaker and more fragile. According to the Mayo Clinic, risk factors for Paget’s disease include being over the age of 40, male, having a family history of the condition, and being of European descent. Researchers suspect a combination of environmental and genetic factors contribute to the disease.

They test for Paget’s disease in three ways to get a diagnosis: x-rays, blood tests and bone scans. In its early stages, most people have no symptoms, so Paget’s disease is sometimes found by accident, such as when one of the tests is done for another reason and they end up with Paget’s as the final diagnosis.

Symptoms of Paget’s disease include difficulty walking, bone deformities, bone fractures, bowlegs, headaches, and joint stiffness. The chronic pain associated with Paget’s disease typically shows up first in the back, hip, legs or skull.

The pain and other symptoms worsen over time. Initially, patients often have a “pins and needles” sensation in their extremities, but the pain can become very unpleasant over time. Bone pain is typically described as extreme tenderness and aching, and is present whether you are moving or not.   

Currently there is no cure for Paget’s disease but there are some treatments that may be helpful, such as bisphosphates and dietary supplements to help strengthen bones. As with many rare and chronic diseases, early intervention is best, but a lifetime of care is important.

There are a few online support groups for patients with Paget’s disease, such as the Facebook page of the Paget's Association. You can also check out this video that helps explain the condition further.

I will be back next month to continue this series with a new rare condition.

Barby Ingle lives with reflex sympathetic dystrophy (RSD), migralepsy and endometriosis. Barby is a chronic pain educator, patient advocate, and president of the International Pain Foundation. She is also a motivational speaker and best-selling author on pain topics. More information about Barby can be found at her website.