Rare Disease Education: Ankylosing Spondylitis
Editor: Kelsey LaFayette, DNP, RN, FNP-C
"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people, each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.
To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.
Zebra of the Week: Ankylosing Spondylitis
What is the typical age to get sick? In our collective perception, we tend to associate disease with old age, with having had more time for the body’s biological machinery to break down. We tend to think people in their 20-30s are in their prime, in the quasi-invincibility of youth. Unfortunately, today’s Zebra ankylosing spondylitis will show us that our health can be affected at any age.
Ankylosing spondylitis is a chronic, inflammatory disease that mostly begins to affect people in their 20s and sometimes in their 30s. The most common symptom is chronic back pain and stiffness, especially in the lower back and buttocks, which is usually worse in the morning and improves with activity, not rest.
Ankylosing spondylitis causes chronic inflammation that can damage the points where ligaments, tendons, and joint capsules attach to bone causing new bone to form along the outer edges of the spine. Thus, the spine becomes more rigid, limiting its range of motion. If left untreated, the bony outgrowths grow until they form bridges among adjacent vertebrae, causing ankylosis—or fusion—of the entire spine.
Ankylosing spondylitis can also affect several other non-bone areas of the body, such as the eyes and lungs.
The exact cause is unclear, but it’s thought to be an autoimmune process, which is when the immune system attacks its own tissue. Many individuals with ankylosing spondylitis carry the HLA-B27 gene, which plays a key role in helping the body distinguish between its own cells and foreign substances.
To learn more about the diagnosis and treatment of ankylosing spondylitis, watch the dedicated Osmosis video on YouTube and Osmosis.org.
Meet Michael Fennelly
Michael Fennelly is a star of the sport of hurling, winning 8 All-Ireland awards. Yet, he was just 20 when he was diagnosed with ankylosing spondylitis, and he has been living with the painful condition for the past 16 years. The stiffness and pain in his back and neck began to create major difficulties for Michael, given the massive physical demands of the game.
Remaining injury-free and being able to train and compete with the Kilkenny senior hurling team was his priority at the cost of getting fitter, stronger, and more powerful. Watch Michael’s unique story of perseverance needed to keep playing sport at the highest level, while living with a chronic disease.
