Coping With Marfan’s Syndrome—When Joints Dislocate
BY AWAKE! WRITER IN BRITAIN
“I take morphine twice a day, in time-release form. This keeps me going, but when pain breaks through, I resort to liquid morphine.” Michelle, a fair-haired middle-aged woman smiled softly as she spoke. At her side her husband, Philip, nodded reassuringly.
“WHEN things get bad,” Michelle continued, “every movement hurts because my joints are not held in place. Then when the nerves stretch as a result, the pain can be excruciating.” Michelle has bravely contended with health problems for decades. She suffers from Marfan’s syndrome.
What is this illness? Is there a cure? I determined to find out.
A Sinister Syndrome
I discovered that the syndrome is named after Antonin Marfan, a French pediatrician. In 1896 he described the condition that came to bear his name. Although the syndrome is rare—estimated to affect only 1 person in 10,000—victims cut across all social and ethnic boundaries.
The syndrome is identified as a genetic disorder. Since the gene responsible for it is dominant, it can be passed to children even if only one parent suffers from the syndrome. For this reason the disorder is often observed in families generation after generation. At present, there is no cure, even if the condition is diagnosed early in life.
Michelle is tall and thin, with long arms, narrow hands and feet, and long fingers and toes. This can be an indication of Marfan’s syndrome. Most individuals affected will not have all the signs and complications associated with the syndrome, but once one has been identified, doctors wisely look for others. What are some of them?
Physical Signs to Look For
A common effect of Marfan’s syndrome is myopia—nearsightedness. About 50 percent of sufferers also experience dislocation of the ocular lens. In addition, the aortic valve may be affected. This valve keeps the blood in the aorta—the body’s largest artery—from leaking back into the heart.
Doctors usually stress that individuals suffering from Marfan’s syndrome should not engage in activities requiring vigorous exertion. Even though only 1 in 10 with the syndrome may develop serious heart problems, the inherent weakness is there and caution is advised. If the aorta ruptures, death is usually inevitable. Flo Hyman, a six-foot-five-inch [1.95 m] U.S. women’s Olympic volleyball player, died at the age of 31 during a match in Japan in 1986 from complications of Marfan’s syndrome.
Those with Marfan’s syndrome may also suffer abnormality in chest structure as well as curvature of the spine. In severe cases, upper jaw and palate problems are evident. When the syndrome is diagnosed in childhood, careful monitoring is necessary, with physical therapy and perhaps surgery playing a part. Some sufferers have difficulty with joint dislocation, as Michelle does. What causes this?
Role of Fibrillin
In 1986, scientists isolated a protein called fibrillin. This protein is an essential component of connective tissue and appears to contribute to its strength and elasticity. In 1991 a defective gene, mapped to the human chromosome 15, was identified as the cause of Marfan’s syndrome. Normally this gene tells the body to produce fibrillin. Apparently, because the gene is defective, the body’s production of fibrillin is scant or faulty, causing tissues to stretch abnormally, since they cannot withstand normal stress. This may explain the difficulties some Marfan’s syndrome patients have with their lungs. Strong connective tissue is essential to provide stability and elasticity to the tiny air sacs in the lungs.
This does not mean, however, that those with Marfan’s syndrome are automatically more susceptible to asthma, bronchitis, or even emphysema. Yet, spontaneous lung collapse sometimes occurs, and when it does, prompt medical attention is important. Michelle told me that she has to be alert to such an emergency involving her lungs, since they are quite badly affected.
By now I was interested in learning how Michelle manages to cope with the pressures of everyday life.
She Learned to Cope
“At the age of 15, I experienced total body pain from what was subsequently diagnosed as Marfan’s syndrome,” Michelle explained. “Our family now wonders if my father had this condition. For many years he suffered from arthritis, and that tends to mask any evidences of Marfan’s syndrome. Our son, Javan, now 24, is definitely affected, but just how it may develop in him remains to be seen.
“In recent years I took steroids, which helped considerably, but when I had to discontinue this treatment, the pain increased.a My shoulders can partially dislocate, as can my hands, knees, wrists, and ankles. If this happens at night when I turn over in bed, I wake up screaming. But Philip is such a supportive husband! He will sit up with me, sometimes all night, and he gives me much comfort, praying for strength for both of us.
“I still do what housework I can, although getting upstairs is difficult, as I have to use a chair lift. But Philip and Javan do much to help me. When things are bad, I have steel-strengthened supports that can be strapped to my hands. Others strapped to my legs give support to my ankles. But these supports are cumbersome and rather restrictive. Moreover, the longer I keep them on, the less exercise I get—and that is not good for me.”
“Surely you must get depressed at times,” I said.
“Yes, of course,” Michelle responded. “Depression comes easily with constant pain and heart problems. So I pray for my Christian brothers and sisters in other lands who may suffer similarly. I am so grateful to have a supportive family and the care of a compassionate doctor and his medical team.
“Sometimes I have to stay in bed more than I would like, and just sitting at home can make me feel worse. For this reason, after talking things over with Philip, 11 years ago I decided to enroll as a regular pioneer, a full-time evangelizer. Although my condition has deteriorated since then, I do what I am able, and Philip often accompanies me in my house-to-house ministry. But I also speak to others informally, as well as on the telephone and by writing letters.
“Sharing the truths of the Bible with my neighbors brings me great joy, especially when I see some become baptized servants of Jehovah. Just talking about Jehovah God’s new world, in which pain and sickness—even death—will be no more, lifts my spirits as nothing else can. As I walk along, I talk silently to Jehovah, and I experience the strength of his holy spirit, enabling me to endure my pain. Believe me, there is no power like it in the world!”
Michelle explained that she has gained particular comfort from reading the Bible. She mentioned Psalm 73:28; 2 Corinthians 4:7; Philippians 4:13; and Revelation 21:3, 4 as texts that have been especially comforting to her. After reviewing these Bible texts myself, I feel that they can truly be an encouragement to anyone who is coping with a stressful situation.
a Steroids are not a standard treatment for Marfan’s syndrome. Much depends on the extent of the problem and on medical preference.
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Doctors have identified up to 200 different disorders of connective tissue. Although such disorders have been identified only in recent years, scientists and historians have reviewed physical characteristics of famous people of the past whom they believe may have had Marfan’s syndrome or a kindred condition.
The tall, thin violinist Niccolò Paganini, who lived from 1782 to 1840, is thought to have been a sufferer. So remarkable were his talents that some claimed that he had sold his soul to the Devil in return for his prowess. Paganini’s physician, Dr. Francesco Bennati, observed: “His hand is no larger than normal, but thanks to the elasticity peculiar to all its parts, his span is doubled. By these means, for example, he can—without altering the position of his hand—bend the upper joints of the fingers of the left hand in a lateral direction, and with the greatest ease and rapidity.”
Looking further back in time, researchers are also intrigued by Egyptian Pharaoh Akhenaton, the husband of Nefertiti. He is portrayed as a thin-faced man with long neck, arms, hands, and feet. His dynasty suffered many early deaths, which is a scenario representative of ancient Marfan’s syndrome sufferers.
From the book Great Men and Famous Women
Ägyptisches Museum der Staatlichen Museen Preußischer Kulturbesitz, Berlin
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Philip often accompanies Michelle in the house-to-house ministry