BY GEORGE NAVA TRUE II
HARRY Raymond Eastlack Jr. lived in Philadelphia and was just like any other boy. He loved listening to the radio and playing records at home. He enjoyed reading, watching movies, and playing with his sister, Helene.
But in 1937, when he was four years old, Eastlack met an accident that would change his life forever. His left leg broke when he was hit by a car while playing outdoors with Helene, The injured leg was put in a cast, but the fracture never healed properly.
Months later, when the cast was removed, his leg was swollen and inflamed. Soon he found it difficult to move his hips and knees. When Eastlack was X-rayed, he had abnormal bone growths on his thighs. This later spread along his back, neck, and chest.
Doctors at that time had no idea what was happening and Eastlack underwent 11 surgical procedures to remove the bony deposits in his body. But instead of helping him, the surgeries made things worse and thicker bones grew back.
Stone man disease
In 1938, doctors learned that Eastlack was suffering from fibrodysplasia ossificans progressiva (FOP). This rare connective tissue disorder is also known as myositis ossificans progressive, Münchmeyer disease, stone man syndrome, or stone man disease. It affects about one in two million people and there are over 800 confirmed cases worldwide.
In babies, telltale signs of FOP include malformed big toes (like Eastlack), short fingers or toes, and other skeletal problems. However, when Eastlack was born in 1933, doctors were unaware that this indicated he had FOP.
In this disease, bones develop in parts of the body where they are not normally present (heterotopic ossification). These form in the tendons, ligaments, and skeletal muscles, according to the US National Organization for Rare Disorders (NORD).
New bones in wrong locations
The new bone forms a secondary skeleton and is similar to normal bone except that it is in the wrong location. As the soft connective tissues and skeletal muscles change into bone, NORD said the joints become locked and movement is restricted or impossible. Patients have difficulty with balance, walking, or sitting. It appears as if they have turned to stone.
NORD said FOP surfaces in early childhood and starts at the neck and shoulders then spreads to the elbows, hips, knees, wrists, ankles, and jaw. Over time, the person has difficulty eating or speaking since he can’t fully open his mouth.
Eating problems can lead to malnutrition. The abnormal bone may cause side-to-side (scoliosis) or front-to-back (kyphosis) curvature of the spine. Patients may find it hard to breathe if the lungs can’t expand because extra bone forms around the ribs.
With restricted movement, NORD said the person becomes susceptible to respiratory infections or right-sided congestive heart failure. About 50% of patients experience hearing loss, while others may suffer from hair loss.
Gene mutation causes FOP
In 2006, an international team of researchers led by Drs. Eileen M. Shore and Frederick Kaplan of the University of Pennsylvania discovered that FOP is caused by mutations in the ACVR1 gene that can be inherited. This gene helps control the growth and development of bones and muscles. But the mutation affects the way the body repairs itself. Bone and cartilage overgrow when the body is damaged because of trauma, minor injuries, or a viral illness.
Following this, certain body parts become swollen. The patient may have a low fever accompanied by pain and stiffness in the affected areas as bone replaces connective tissue. This process may occur rapidly or gradually through the years.
Currently, there is no way to cure or prevent this disabling disease. NORD said corticosteroids may relieve pain and swelling during flare-ups and patients may benefit from occupational therapy. To prevent rapid bone formation, people with FOP should avoid falls or injuries. Removing the extra bones through surgery is not recommended since this only makes the body repair itself with additional bone growths.
This was the sad fate of Eastlack who underwent a lot of surgeries in his lifetime as doctors tried to remove the extra bones in his body. By age 15, he couldn’t eat solid food and had to speak through clenched teeth. As he became immobilized because of the disease, he could only move his eyes, lips, and tongue.
Eastlack’s legacy
At age 20, Eastlack was admitted to a nursing home in Philadelphia when his mother was too old to care for him. He spent the remainder of his life there until he died of bronchial pneumonia from inactivity. This happened in 1973 six days before his 40th birthday.
But Eastlack’s death was not in vain. Before he died, he instructed his sister to donate his skeleton and medical records to research so doctors may fully understand the condition. His remains are now on display at the Mütter Museum in the College of Physicians of Philadelphia.
Since then, Eastlack’s hometown has become the center for FOP research and his skeleton has inspired many doctors, professors, and medical students to study the disease. Thanks to him, University of Pennsylvania researchers were able to discover the gene that was responsible for FOP. To this day, Eastlack’s skeleton is an important medical reference.
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National Press Club and Philippine Dental Association awardee George N. True II has written two bestsellers based on his popular column that has been running for almost 40 years. For questions about health, email georgenavatrue@yahoo.com./PN
