Steve Haskew remembers the day the back pain started. He was just 29 years old, laying sod in the yard of this new home in Texas.
"It was the first clue, but I didn't know until years later," said Haskew, now a 63-year-old project director for a shipyard business in Houston, whose lower back pain plagued him for a decade before he got a proper diagnosis.
Today, after years of inflammation, his entire spine is like a rigid stick of bamboo, pressing on nerves and causing increasing numbness in the lower part of his body.
"If I want to see something to the side, I have to turn the whole body," said Haskew. "And I am a little bit stooped. Fortunately, my spine fused fairly straight. Some people are literally chin to the chest."
Haskew has ankylosing spondylitis, or AS, which can lead to what is identified on X-rays as bamboo spine due to the way it fuses the backbone, causing irreversible deformity. There are effective treatments, but no cure.
And now, he has been dealt another blow -- his 33-year-old daughter Kate is also struggling with an AS diagnosis, discovered after the family participated in genetic research.
Though she has known most of her life that it could happen to her, Kate was still stunned.
"I got a phone call saying, 'You have it,' and I burst into tears," said Kate, a school psychologist living in Phoenix. "I feel sometimes like I am at war with my body or I am in a chess game and I have no idea what move it will play next. None of us know."
So far, her case seems milder than her father's, "but having been around me, she has her fears that it could turn out like mine," said Haskew.
Kate's prognosis is, indeed, better than her father's. That's because she was diagnosed early -- about three years ago at exactly the same age her father was when he first noticed his symptoms. As a result, she was able to get started on treatment that will likely given her a better outcome.
"I feel lucky," she said. "Quite frankly, if Dad and I were not in a study, I would never have been diagnosed."
Ankylosing spondylitis is a form of arthritis of the spine that usually strikes between the ages of 15 and 35, when patients are "young, bullet-proof and 20-feet tall," according to Laurie Savage, executive director of the Spondylitis Association of America (SAA), an organization that provides education and research.
"Spondylitis" means inflammation of the vertebrae and "ankylosing" refers to joint fusing and immobility. AS and its related diseases are the most overlooked cause of persistent back pain in young adults and can also lead to damage in the eyes, heart and lungs.
According to the Centers for Disease Control and Prevention and Prevention, AS affects up to 2.4 million Americans -- more than multiple sclerosis, cystic fibrosis and Lou Gehrig's disease combined. It is nearly twice as common as rheumatoid arthritis.
Often dismissed as "growing pains," AS causes joint pain and stiffness, which is often worse at night, but resolves during the day. The pain is often eased by exercise and worsens with inactivity.
Ankylosing Spondylitis Can Be Treated
Most people with spondylitis lead long and productive lives. Treatment regimens include medication, exercise and possibly physical therapy, as well as good posture practices. Nonsteroidal anti-inflammatory drugs (NSAIDS) and new biologic medicines can reduce pain and help limit the risk of disability.
Most of the damage to the spine occurs in the first 10 years of the disease, which is why early detection is so important.
Like Haskew, many patients suffer for years, going from doctor to doctor, before they get a proper diagnosis. In 2010, SAA launched a new online screening tool test -- a series of questions that a patient can print out and take to the rheumatologist.
The organization also initiated a massive marketing campaign last summer that included PSAs on a Jumbotron in New York City's Times Square.
An estimated 10,500 people have already taken the test, self-reporting their chronic back pain. No one knows how many have gone on to get a diagnosis, but about 15 percent who see a rheumatologist do have some form of inflammatory back pain, according to Savage – "a sizable number."
In Haskew's case, the spinal sensitivity in his lower back grew worse and he began to experience some lack of movement, which he first noticed when getting into his foreign car.
"I kept bumping my head and blaming it on the Japanese," said Haskew. "The problem was mine."
The pain finally drove him to the family doctor and eventually an orthopedist, who both diagnosed Haskew with osteoarthritis. He later learned that the increasing tenderness was actually his spine fusing.
In 1986, Haskew finally found an eager young internist who referred him to a rheumatologist. "I went to visit him with my X-rays in hand and didn't even go into the examining room," he said. "I sat down on the other side of his desk and held the X-rays to the ceiling light and he said, 'I can tell you exactly what you have.'"
"What a relief to find out what it was," said Haskew. Doctors could nothing for the fusion, but he can do just about anything that doesn't require flexibility.
The gold standard for diagnosing AS is looking for changes in the sacroiliac joint, near the buttock area of the spine. But often they do not show up on X-rays for years and deter some doctors from making the correct diagnosis.
Unlike other types of arthritis, a blood test does is negative for the rheumatoid factor, another reason spondylitis is difficult to diagnose.
Disabling Spondylitis May Begin in Bowel
Some researchers speculate that the disease begins with an intestinal infection that damages the bowel and allows bacteria to circulate in the bloodstream. The body's reaction can cause an autoimmune response.
As with the Haskews, AS tends to run in families. About 90 percent with the disease test positive for the gene HLA-B27. Now researchers have found about 12 more genetic markers that may explain its varied progression.
"It's not that hard a problem to diagnose, it's the recognition of it," said Dr. John Reveille, director of the division of rheumatology at The University of Texas Health Science Center at Houston and a leading researcher in the field. "Low back pain is the leading cause of disability in the U.S. and the most days lost from work."
"Early diagnosis is important, so you can get the patient on a treatment regimen and control the symptoms…and alter the progress of the disease," he said.
Preliminary data in some of his studies have shown that there are certain genes associated with rapid progression of the disease and a test might ultimately be developed to see early predictors.
That may give doctors a "much better idea to the extent it is a national problem," said Reveille. "And it's not just AS, it's the whole spectrum of spondyloarthropathies, one of the most neglected diagnoses and mistreated in much of this country."
"Now with rapidly shifting paradigms and new criteria, the burden is now on us to get the word out," he said.
Reveille has tracked Kate Haskew since she was 18, leading to her diagnosis. "My blood happened to have all the markers," she said.
Though still active in ballet, Kate lives with constant back stiffness and discomfort in her hips -- and she misses wearing high heels, which exacerbate the pain.
"Primarily, it causes overall body tension," she said. "I am uncomfortable most of the time and sometimes it hurts. I don't sit very well."
"To get a serious disease at a young age is hard psychologically, especially when you don't know it's "trajectory," said Kate.
"Occasionally when I wake up and don't feel well, I get down," she said. "At my age it impacts my dating relationships…How do I explain to my boyfriend that this is what I have and I can't tell you what it will be like in five years and yes, we could pass it on to our children? That's a big thing."
But most of the time, with the help of medication, stretching exercises and monthly massage therapy, she is doing just fine. And her father, who has "one of the most severe cases on file," is a wonderful role model.
"Growing up, he never complained about it…never let on the hurt," she said. And when Kate learned she had the disease, her father was empathetic but clear.
"I tell her she just has a little time to be down all you want," said Haskew. "Then you need to go forward and move on. It's not a death sentence, but you have to learn to live with the reality."
For years, Haskew dismissed support groups as "people sitting around complaining about what they have."
But now, Haskew and his daughter are active in groups sponsored by SAA and he serves as co-leader in Houston. Kate has bonded with others in Phoenix.
"Information is power," said Kate. "More you know and understand, the more you can take ownership."
"The only thing that limits you in ankylosing spondylitis are the limits you put on yourself," she said. "My Dad still rides his bicycle and believes himself to be a capable person. I try to have the same attitude myself. I may have to accommodate AS, but it won't define me or what I choose to do in my life."
Her father agreed.
"It's not something you go out and choose, but if you think you have it bad, come over to the cancer center in Houston and look at the children," said Haskew, ever the optimist. "That's a sad sight."