SLEEPING WITH THE ENEMY
In scleroderma, the body is the enemy. How do you fight it when you have to live with it? A scleroderma patient finds out.
By MICHELLE CIRIACRUZ
Medical Writer
Photography
By BOANER MEDINA
"I, WHO HAVEN'T SEEN A DOCTOR SINCE I WAS A CHILD, WHO WAS NEVER STRICKEN WITH ANYTHING MORE THAN A BAD COLD, WHO HAVEN'T EVEN CONTRACTED MEASLES OR CHICKEN-POX, NOW HAD A DISEASE THAT ONLY ONE PERSON IN A MILLION GETS," PEACHY RAILS AS SHE DESCRIBES HER EXPERIENCE UPON FIRST KNOWING THAT SHE WAS SUFFERING FROM A RARE CONNECTIVE TISSUE DISORDER THAT TARGETS THE COLLAGEN-PRODUCING CELLS AND BLOOD VESSELS OF HER BODY.
For a 20-year-old, just a few months into her first job as a telecommunications specialist, the knowledge was devastating. That it was incurable and was a result of her own body turning traitor to itself made it more so.
According to her rheumatologist, Dr. Clemente Amante of Asian Hospital and Manila Doctors Hospital, "[scleroderma] is not a common disease." Among Filipinos, its incidence is unknown. In other countries, figures are inconsistent. Generally, it is four times more common in women than in men, is rare in children, and may overlap with other connective tissue disease.
"There are situations where patients with scleroderma may have features of the other connective tissue diseases," describes Amante.
What causes it, Amante says, we still don't know. He observers though that "it seems to be a combination of a lot of things," which is always the case in connective tissue diseases. "Genetic, maybe hormonal-because it's very common among females." Although it cannot be described yet as genetically inherited, "familial aggregation" has been noted, says Amante.
"Certain genes are seen among scleroderma patients. But their presence does not necessarily mean the person with these genes will develop the disease," he explains.
Rare as the disease is, treatment would not be as definitive as the more common ones. Some of the drugs used, like antifibrotics, cannot yet meet the amount and kind of evidence obtained from large-scale clinical trials that many drugs enjoy.
In The Scleroderma Book, Dr. Maureen Mayes, a recognized authority on scleroderma, explains that treatment of scleroderma is of necessity very individualized. "No two stories are alike because the disease is expressed differently in different people and people respond in different ways," she writes.
Peachy's case illustrates this arbitrariness. Her case, however, also represents how a person in the grip of scleroderma can relax in its grip while being realistic about one's expectations.
Thick Skin, Skin Thick
Scleroderma means "hard skin." The skin of a person with scleroderma becomes thickened and shiny.
In college, Peachy's friends would sometimes comment on how leathery her skin was becoming. Was she spending too much time under the sun, they would ask, and advised her to use lotion or sunscreen regularly. Secretly, though, Peachy was quite proud of how taut her skin was compared with the others, despite it being a little dry. She'd get around to moisturizing it, she would shrug.
She shouldn't have shrugged, it would turn out. As Amante describes scleroderma: "The skin becomes very shiny initially and then later on it becomes a little thick, you could hardly pull it up. You cannot elevate the skin by pinching, because it's adherent to the underlying tissue."
After graduation was the world of adulthood to experience. Peachy found work at a call center in Subic. It was exhausting but she found it exciting. She lost weight, which elated her as she had been trying to make her diet work for what seemed like ages.
After a few months, she noticed something unusual in herself. In a few months, however, she started to feel puzzled. She wasn't just exhausted from work; she was tired all the time. "I was happy that I was getting thinner but I couldn't understand why I was getting weaker," Peachy relates.
Her body ached as well. She had to resign. Back home, she fell into a delirious fever. It was at San Juan de Dios Hospital that Dr. Ester Penserga, rheumatologist, diagnosed her with scleroderma.
"Things such as turning into a living mummy didn't particularly make me happy to hear," Peachy reveals.
The doctor was very patient but upfront about her condition. "I was obviously halfway through diffuse scleroderma and the doctor warned me that I could very well get worse before I got better."
Peachy's skin by this time had lost much of its pliancy, which affected movement and even the ability of her face to make expressions. Her fingers were puffy and turning bluish when exposed to the cold (Raynaud's phenomenon). Her joints ached; she was weak, and prone to heartburn.
According to Amante, "the basic pathology here (scleroderma) is the collagen-which is not normal collagen-in our skin is overproduced."
The cells that make collagen, the major component of connective tissue, cannot seem to find their "off" switch. When this happens, "the excess collagen gets in the way of normal functioning," Mayes describes.
Because the skin is substantially collagen, the skin is usually affected first. But the collagen buildup could also affect other bodily systems.
Mayes elaborates: "Fingers don't bend well... The lungs can't exchange oxygen for carbon dioxide effectively because there is a thick layer of collagen where a very thin membrane is supposed to be; esophagus and bowel can't move effectively because there is scar tissue where muscle fibers are supposed to be."
The other hallmark of scleroderma is blood vessels narrowing, says Amante. Upon exposure to cold, blood has a harder time washing the extremities with oxygen. The vascular part of the disease could also cause sudden rises in blood pressure that can lead to kidney damage.
In systemic scleroderma, when internal organs are affected already, the immune system is activated in a way that damages, again, the collagen-producing cells and blood vessels.
In other words, the body makes too much of what the body will attack, anyway.
Scleroderma, Except...
Scleroderma is sometimes characterized as progressive. Progressive, however, is not really accurate. "The clinical course that a patient with scleroderma follows is very unpredictable. It may take a year, and then all of a sudden, everything just gets worse," relates Amante.
It can also vary a lot in terms of severity, in the combination of symptoms, and in whom these are presented. The variety has created subdivisions, and classifying what into whom can be rather confusing.
It is also "a disease characterized by exceptions," as Mayes points out, which makes knowing where a patient fits in more difficult. Since each subset has its own prognostic indicators, knowing to what subset a patient belongs is definitely important.
Basically, there are two types of scleroderma: the localized, where internal body systems are usually unaffected; and systemic, where internal systems are involved.
In localized scleroderma, the disease manifests as patches or bands of thickened skin. "They don't usually progress [to organ involvement]," Amante points out. While in systemic, scleroderma can manifest as limited or diffuse.
Limited is also referred to as CREST, which stands for calcinosis (formation of tiny deposits of calcium in the skin), gastroesophageal disturbances (leading to heartburn and poor absorption of food), sclerodactyly (tightness of the skin of the fingers), and telangiectasias (appearance of small blood vessels near surface of skin). Scleroderma patients that fall under CREST usually have better prognosis, although they are more prone to kidney function disorder and pulmonary hypertension.
Diffuse scleroderma is the more serious form. Skin hardening is more generalized and the internals organs are more likely to be damaged.
Scleroderma could also manifest in combination with other connective tissue or autoimmune disorders.
Peachy is not just one of the rare people on this earth with scleroderma, she is also one of the rare scleroderma patients who experienced lupus. Early in the disease, she developed arthritis, which still flares up occasionally.
"The distinctions between these (subdivisions) are basically depending on how the patient clinically presents and laboratory tests to signify [the] specific connective tissue disease that the patient may have," Amante clarifies.
Incurable But Treatable
"There is no cure for scleroderma. Once you get it, you always have it," declares Mayes. "However, to say there is no cure for scleroderma is not to say that there is no treatment," she qualifies.
Before everything else, proper diagnosis must be made. Pulmonary function tests, chest X-ray, 2-D echo test, and serologic test are the most crucial ones, says Amante.
Pulmonary involvement is very worrisome, he explains. "The pulmonary involvement can vary. Very little symptoms and yet they may have abnormal pulmonary functions test."
A chest X-ray may come out normal, yet a pulmonary function test shows the exchange of gases within the lungs is reduced. A 2-D echo test can then determine whether there is pulmonary hypertension, which is a common cause of death among patients with systemic scleroderma.
A serologic test will show what antibodies are running rampant within the immune system. "Some antinuclear antibodies are specific for some connective tissue disease. It can help us support our diagnosis. At the same time, we may be able to pick up prognostic indicators," says Amante.
In about 90 percent of those with systemic scleroderma, antibodies that react to materials in the nucleus of cells are present in the blood-with anticentromere antibodies being usual to the limited form of scleroderma and antitopoisomerase antibodies in the generalized form (The Merck Manual, 16th edition).
Treatment follows, and it is "based on what we know is happening in the patient," according to Amante.
Peachy was first put on prednisone, a steroid-like drug to counteract the inflammation in her joints. Her doctor tried her on D-penicillamine, a drug that has been shown to delay the thickening of the skin. Unfortunately, it didn't work on her and she was hurriedly put back on prednisone.
To relieve her pain, she was prescribed tramadol.
"Prevention of the aggravating factors," says Amante basically defines the treatment of someone with a connective tissue disorder. "To prevent complications and to relieve symptoms," Mayes elaborates.
"Cold temperature aggravates the vaso-spasm in Raynaud's phenomenon," says Amante. Therefore, Peachy should always be protected against the cold. Nowadays, she is more out of breath often, therefore, she should not overdo with the physical activities. Her heartburn, meanwhile, can be relieved by eating frequent small meals. She also has to take better care with being in contact with sick people as her immune system is now behaving oddly.
Regarding medication, antiinflammatory drugs help with arthritis and steroids (for short periods) with muscle pain.
Amante points out, however: "There is more to treatment than just medication. At a certain point in the disease, medicine doesn't seem to work, depending on how bad the thickening of the skin is. There are certain things she can do that can prevent it (scleroderma) from getting worse."
Patient noncompliance with follow-up is actually the worst thing that can happen in a scleroderma patient. As Amante said earlier, the clinical course of this disease can be unpredictable.
There would be years when the scleroderma seems just as if a phase in the patient's life, and then, all of a sudden, it rapidly progresses to affect the internal organs-and chances of surviving.
Peachy has been meeting the terms of her treatment almost completely. She missed one or two follow-up in the two years she has had the disease, but she promises to be better. Right now, she is working, trying her hand at writing professionally. She used to do a neat trick of snap, crackle pop, which scleroderma temporarily put a stop to. Now, Peachy says she's back to her old tricks.
Amante cautions though that although the immune involvement is not as bad as lupus, Peachy can never really leave behind her autoimmune abnormality. "You can never really lead a normal life, in the context that you don't worry about anything," he told her when she became his patient almost a year ago.
Mayes says: "There is a difference between being a victim suffering from a disease and being a person living with a condition."
And the difference is more than just attitude, she stresses. "No amount of positive thinking can make scleroderma magically disappear." However, one may take control over one's response to the disease.
The term "victim," she explains, is fraught with a sense of passivity. Whereas, the term "living with" implies an individual identity influenced but not overwhelmed by the condition, she continues.
There is acceptance without surrender. Peachy, who has read Mayes's book, is trying to live up to this ideal. Her family's support makes it easier, being there always for her. Peachy says, "You can live through anything as long as someone's there for you."
Suffer not Suffering
When the body is your enemy, it is difficult to be clear-cut about one's options-as Peachy is finding out. With scleroderma, fighting may not be an option. She will live with it affecting and influencing every thing she does and choice she makes. Scleroderma could sometimes make her want to live without it, but with care, she can live with it and not suffer from it.
"Learning to live with scleroderma isn't an easy road to travel, but I'm making it and I've got the scars to prove it," Peachy affirms.
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