For as long as he can remember, Aaron Blocker's bones had given him problems.
Born with severely bent legs, Blocker wore metal Greaves while sleeping as a baby, allowing him to walk. Still, he said his legs "always hurt." The rash from broken bones started when he was 10 years old, falling on his hand and breaking several fingers. A few years later, he broke his nose for the first time when it was gently cut off from a soft plastic swing.
"My family just thought I was a clumsy kid," said Blocker, 30, who was raised near Jackson, Miss., where he still resides. "I was very active."
Over the years, Blocker says, doctors, have repaired his broken bones and treated other orthopedic issues, including scoliosis, a sideways curvature of the spine. But no one suggested taking a closer look, even after Blocker underwent multiple surgeries in his 20s to replace both hips -- a surgery typically performed on people decades older.
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The premature and unexpected failure of these hip replacements convinced Blocker that his skeletal problems had a root cause that was being overlooked. At 24, as a graduate student in biomedical research, Blocker used his skills and practiced them on himself. He spent several weeks digging through his medical records and scrolling through scientific websites before he came across Pay Dirt: a possible diagnosis that subsequently confirmed by genetic testing
"It was a relief to get an answer," said Blocker, who works for an insurance broker. "But I've always wondered, how could this have been missed for so long?"
One of his doctors later suggested that the answer might reflect developing scientific knowledge about his rare diagnosis, as well as Blocker's complicated medical history.
Dental problems
Blocker's bones weren't his only problem.
"I had a lot of problems with my teeth growing up," he said. His molars, usually the largest and strongest teeth, would inexplicably break. By the time he graduated from high school, seven teeth had been pulled. Blocker also had numerous cavities, which his dentist attributed to "weak teeth." He had two wisdom teeth removed in high school and healing was unusually slow; The oral surgeon found the weakness in his jawbone but did not recommend further testing.
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As a teenager, Blocker developed recurring problems with his right shoulder. The first time he twisted it while throwing a ball. Another dislocation occurred while he slept, although no one could explain how or why this happened
During his senior year of high school, Blocker had to deal with a more pressing problem. After a two-week hospital stay that masked months of abdominal pain that saw his weight drop to 100 pounds, Blocker, who is 5ft 10, was diagnosed with Crohn's disease. Inflammatory bowel disease causes severe diarrhea and weight loss.
He was prescribed prednisone, the main drug used to treat Crohn's disease. Blocker said he took a relatively low dose of the corticosteroid, which reduces inflammation, for about eight weeks.
A year later, in January 2011, when the disease broke out, Blocker was hospitalized again and underwent a CT scan of the abdomen. The scan revealed an alarming and unexpected incidental finding: avascular necrosis of both hips. A bone density scan also revealed Blocker had severe osteoporosis.
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Avascular necrosis occurs when the blood supply to a bone is cut off, causing the tissue to collapse and die and threatening the integrity of the structure. Causes include long-term use of steroids, especially in high doses, excessive alcohol consumption, broken bones, and a variety of medical conditions. People with inflammatory bowel disease may have a reduced ability to absorb calcium and vitamin D, which can affect bone density and lead to osteoporosis, a condition in which bones become weak and brittle.
The orthopedist told me my hip bones were dying and said it might be related to prednisone use," Blocker recalled. But that seemed questionable: He had been taking the drug for about eight weeks, and not in high doses.
A year later, after other treatments had failed and Blocker's hip joints began to collapse, both hips underwent surgery three months apart.
I spent most of 2012 indoors, said Blocker, then a 20-year-old student who took a year on medical leave from Mississippi College and moved home. "It was very difficult."
Premature failure
Between 2012 and 2016, Blocker said, he broke his nose and wrist again, as well as multiple toes. One night in February 2016, Blocker was sitting on his bed when he turned to grab something from a bedside table. He immediately felt a sharp pain in his hip that was so bad he couldn't move. His wife, Emily, called a friend who carefully lifted Blocker off the bed, carried him to the car, and drove him to a nearby emergency room.
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Doctors diagnosed a partially dislocated hip. Blocker was sent home on crutches and told to see an orthopedist, who told him his new hips failed after less than four years.
I knew in my gut that something was wrong, he recalls. It didn't make sense to me that these failed when they're supposed to last 15+ years. I thought, I'll try to find out if nobody else is.
Blocker collected his medical records from doctors' offices and hospitals in the Jackson area and began digging.
A few years ago, he noticed that his alkaline phosphatase (ALP), a component of a routine blood chemistry panel, was always extremely low. ALP is an enzyme found primarily in the liver, bones, and digestive system. High levels of ALP can signal cancer, a problem with the liver, or mononucleosis. Low levels can indicate a zinc deficiency, malnutrition, or a rare genetic condition called hypophosphatemia (HPP), which affects around 1 in 100,000 people and causes bone and tooth problems
I realized that I fit every symptom, Blocker said. I had a moment that felt like clarity. I thought, This could be it.
Hypophosphatemia is an inherited disorder caused by mutations in the ALP L gene that disrupt mineralization, the essential process by which calcium and phosphorus are deposited as teeth and bones develop, making them strong and rigid. There are different forms of the disease, which differ in the age of onset. The most severe form occurs prenatally, while the mildest affects only teeth.
The disease is particularly common among Mennonites in Manitoba, a province in Canada, where about 1 in 2,500 babies is born with severe HPP, which is inherited in an autosomal recessive manner: two copies of the mutated gene, usually one from each parent, are presently required to cause disease. In such cases, the parents may be carriers who show no signs of the disease. Less severe autosomal dominant forms of HPP result from inheriting a defective gene from a parent who may also have the disease.
Blocker took the found items to his family doctor, who had never heard of HPP. He referred Blocker to a geneticist at the University of Mississippi, whom he saw in July 2017.
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After reviewing Blocker's medical history, including his bowed legs at birth, numerous fractures, osteoporosis, and a history of hip replacement, the specialist ordered a genetic test for HPP.
The results confirmed Blocker's hypothesis: he had the disease, which was inherited in an autosomal dominant manner. Blocker, who was raised by his maternal grandparents, said he doesn't know which parent passed the gene to him.
I was relieved, he said, of the news that something other than clumsiness or bad luck was to blame. It was nice to be right and not feel like a crazy person and have an answer.
Connection with an expert
It quickly became apparent to Blocker and his doctors that he would need specialized treatment out of state. The next expert, 400 miles north of Jackson, was endocrinologist Kathryn Dahir of Nashville's Vanderbilt University School of Medicine. As a specialist in metabolic bone disease, Dahir treats patients and families affected by HPP “from the cradle to the grave”.
Blocker saw Dahir in early 2018 and spent two days at Vanderbilt to undergo testing and evaluation at the Center for Bone Biology. He is among a handful of the approximately 100 HPP patients Dahir has treated who have self-diagnosed their disease.
"Aaron is a really smart guy — really medically curious," she said.
One reason his case may have escaped diagnosis, Dahir said, is that the less severe form he suffers from - juvenile-onset - was only recently described. "Our understanding of the disease has evolved over the past decade," she said.
And there may have been a clinical reason why doctors didn't follow up on Blocker's unusually low ALP levels. Until recently, low levels, unlike high levels, were not necessarily considered clinically significant and may not have been labeled. That has changed, she said, and "is just a quantum leap forward.
Blocker's history of Crohn's disease may also have played a role. Although there is no known link between HPP and Crohn's disease, it makes the diagnosis more complicated," Dahir noted. It's really difficult to have two things that affect the musculoskeletal system. It's hard to figure out what's causing what.
After a tournament with his health insurance company, Blocker was approved to take Strensiq, the only drug approved to treat HPP. Blocker said the drug, which he injects six times a week, costs his insurance company about $1.6 million a year. The drug is designed to replace alkaline phosphatase and improve bone health.
He was very impaired, there was no other treatment," said, Dahir, who sees Blocker two or three times a year. He's fine, but he's still undergoing surgery.
While Crohn's Blocker has been in remission for five years, his problems with HPP have not abated.
He has had four operations on his elbows and teeth so far this year, and has been told he needs knee replacements. After a surgical incision on his elbow failed to heal last month, Blocker was diagnosed with MRSA, his second in a year. He is on strong intravenous antibiotics to treat the resistant bacterial infection
Blocker is trying to ensure his almost 4-year-old son benefits from his hard-earned knowledge and experience. He's being monitored and is completely healthy so far, Blocker said.
He remains incredulous that doctors have not suggested investigating the causes of his multiple fractures, dental problems, and low ALP levels, and that he - none of them - has made the diagnosis.
You're wondering where the break is, Blocker said.
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