Undiagnosed disease? Maybe it is, maybe it isn't

Attention all those with sporadic but crippling pain, recurrent infections, skin lesions and other symptoms of various stripes that baffle, even confound, doctors: The National Institutes of Health may be able to help.

The agency this week launched its Undiagnosed Diseases Program, in which physicians and researchers from a host of specialties will put their collective expertise to work studying patients with mysterious illnesses that have yet to be diagnosed.

Now the caveats: Only about 50 to 100 participants will be chosen annually. The competition is likely to be fierce. Over the years, it seems I've heard from at least that many people saying they've not been diagnosed properly. Of course, many of them probably couldn't get a physician to agree with that conclusion.

That brings us to the second caveat ... patients must be referred by a physician or healthcare provider. No self-diagnosing-as-undiagnosable this time around.

And that brings us to the Happy Hospitalist, an internist who doesn't seem that impressed with the focus on mystery diseases and who offers up "real world examples" of folks who believe they've not been diagnosed properly, including this one:  "Ma'am, your 10 CT scans of your abdomen in the last twelve months, your three upper endoscopies, your two colonoscopies, your CT angiogram of your belly, your PET scan, your exploratory lap, your cholecystectomy, hysterectomy, spleenectomy and your 400 pages of lab tests have failed to give us an alternative diagnosis to your irritable bowel syndrome."

He adds: "To everyone up there at the  National Sounds Important Institute, let me know if you need some help."

-- Tami Dennis

Photo: Lawrence K. Ho / Los Angeles Times

Comments

[Richard M.]

I'm one of those people that in recent years has been plagued with "sporadic but crippling pain, recurrent infections, skin lesions and other symptoms". Doctors tell me there is nothing wrong with me because their limited tests for a battery of known problems come back negative. I have treated myself successfully with various homemade fungacidal preparations, both internally and externally. I discovered that antibiotics made the symptoms worse, which caused me to consider fungi as a possible culprit. So far, my methods of self treatment are working quite well for me.

[Chiron613]

I'm with Richard M. Often doctors fail to find objective evidence of a problem, and conclude that the patient has no problem. This is unfair and potentially dangerous. When a patient presents with symptoms, there already is a problem. It may be an unusual physical illness. It may be psychological. But there's a problem.

Unfortunately, many doctors stop looking for the answer if the first battery of tests are negative. And usually, their patients survive, though they may suffer unnecessarily as a result. Most likely doctors are hampered by restrictions by insurance companies, and cannot take the necessary time to track down every illness. They are forced to play the odds. Usually, they win. Sometimes they don't, and then the patient is the one who loses.

[SacredNature]

Probably one of the best ways to get to the bottom of these "mystery illnesses" is to explore more options than strictly biological, and physical. My heart goes out to the woman who is mocked about her irritable bowel syndrome, because digestion is one of the areas of the body which is most affected by emotional or psychological distress. Our digestive tracts are independant of our brains, and they store information - that "gut feeling" you get is an instinct your digestive tract is relaying to your brain. When our digestive brain and our head brain are in disagreement - when we override our "gut feelings" with denial or other forms of unconsciousness, our digestive tract works overtime to alert us to a problem, and the result often looks just like a medical condition. We need to look at solutions that integrate the entire being, and as the mind-body connection is understood better, we are likely to find resolutions or treatments that don't put money in the pockets of pharmaceutical companies and unnatural chemicals into our bodies.

[nancy Parker]

I also had one of those undiagnosed conditions. It took tests, biopsies, two referrals to rheumatologists and a psych hospitalization to 'discover' that I had fibromyalgia and chronic fatigue. When I had weight loss surgery and my surgeon gave me Flagyl ( 2 gms) the night before surgery, I recovered three days later and it has not come back in 11 years. I had been called lazy, and a bored, spoiled housewife for four years. Lately I read that it can be caused by some of the normal parasite infections we pick up around the house! About 1/3 rd of FM/CF patients have this form. Spread the word!

[Undiagnosed]

Why cant Australia have a program like this?
If I had the money I would travel for something like this...

[Eric S.]

Hello all, I have been unfortunate with my condition. I am 19 years old and I have been to military school and I joined the United States Marine Corps a little over a year ago. When I was approximately 15 years old and in south Texas for school I was spending days out in the sun from sun up to sun down and after a week or two I started experiencing tingling sensations on my hands, arms , and back of my legs, virtually everywhere that was directly exposed to the sun light. Being of a fair complexion I have been accustomed to sunburns and wearing sunscreen so I know what a sunburn feels like. Well after several days the tingling progresses into severe pain growing in intensity. During this time of increased pain there are no visible symptoms. Well at this point I am in a state of extreme agony and I go to a dermatologist. The first time this occurred the dermatologist said it was a mild sunburn prescribed me extremely high SPF sunscreen and skin lotion and he tells me to layer it on. I follow his orders and the pain only increases, at this point I am in constant agony with the pain centralizing along my arms and hands with my hands being the main point of pain. After several more days my hands and arms begin to swell almost doubling in size and I lose all strength in them making it difficult if not impossible to even simple doorknobs. I then went back to the doctor and he couldn't find a diagnosis he then chalked it up to eczema and sent me on my way with a steroidal cream and the lotion and sunscreen. Well this doesn't fix anything and they prescribe me a steroid to take for the swelling. The swelling goes down but the pain persists. Following the decrease in swelling the skin on my hands along my index finger and dies and falls off in thick layers leaving a very red, raw layer of skin remaining. It then only subsides after I spend literally all day indoors for approximately a month. After the symptoms subside after spending almost zero time outdoors the doctors then tell me it's gone and I have nothing to worry about. Well when I was 15 the problem stayed away, and yes I live a normal life of going out doors, but when I enlisted in the Marine Corps the problem returned while going through infantry training. This ultimately led to me getting an unwanted discharge from the military and now I'm at a loss as all I wanted to do was be in the military. The problem doesn't occur unless I spend several days outdoors and in intense sunlight and heat environments. My skin now feels more and more sensitive to this problem with each passing month and I can feel the beginning of the tingling start to onset after only a day or two outdoors in hot, sunny environments, which then forces me indoors for a day or two until the tingling subsides. I would eagerly take some advice.