Tips on how to get a proper diagnosis

null Charmaine Frederick needed an answer. She started falling down and had pain in her arm and shoulder.

"When I went to my physicians, they really didn't know what to do with me," said Frederick.

Andrea Chervenak wanted to know what was causing her pain, weakness, dizziness and heart palpitations.

"I just said, 'God, if this is how I'm going to exist, I'd rather be dead,'" said Frederick.

Two women with troubling symptoms and no diagnosis.

"If you don't have a diagnosis, it's like being born without a birth certificate," said Marianne Genetti, In Need Of Diagnosis.

Marianne Genetti runs a non-profit organization called In Need Of Diagnosis. They help undiagnosed patients find doctors and resources while providing support. She's received letters from all over the world.

What can you do? Ask for more tests, do your own research, and don't think no news is good news. Up to 33-percent of doctors don't always notify patients about abnormal test results.

It took two doctors, several tests and many months before Charmaine got her diagnosis -- Parkinson's disease.

"The hardest thing has been a reduction in my independence, I guess," said Frederick.

Andrea still doesn't have an accurate diagnosis. She's moving forward and has written a book and created a Web site to help others focus on the positive.

"There is always light. There is always a way," said Chervenak.

Marianne plans to work with other nonprofit groups to create a national symptoms database so people with undiagnosed disorders can search by symptom to hopefully find out what's wrong.

Presently, she says there's nothing like it. Last year, the National Institutes of Health launched an Undiagnosed Diseases Program, but they only accept 100 patients per year.

Web Extra Information: Getting A Diagnosis

RARE AND MISDIAGNOSED ILLNESSES:

According to an article published in the Journal of the American Medical Association, doctors misdiagnose fatal illnesses in 20 out of 100 cases. Some commonly misdiagnosed diseases include the following:

  • Cancer: Misdiagnosis of cancer usually happens because proper screening guidelines were not followed or because lab results were misinterpreted. Breast, pancreatic and colorectal are commonly misdiagnosed cancers.
  • Heart attacks: Heart attacks often they do not involve obvious symptoms. Sometimes the patient experiences nausea, mild shortness of breath, mild pain in the chest or a feeling as if their chest is full.
  • Aortic dissection: This condition occurs when the aorta, or the heart's major artery, is torn. Patients can feel when this happen, but it is often misdiagnosed as a condition with similar symptoms, such as a myocardial infarction or pulmonary embolism. Actor John Ritter died of this condition. His surviving wife settled a wrongful death suit against a hospital in California who she says misdiagnosed him at least twice.
  • Clogged arteries: Doctors may misattribute shortness of breath, a symptom of coronary artery disease, to obesity or being overweight.
Sometimes a diagnosis doesn't occur because the condition a patient has is so rare. In the United States, a rare disease is categorized as one that afflicts less than 200,000 people. There are more than 7,000 diseases classified as this. Primary care physicians who have a patient with a complex, undiagnosed disorder can refer them to other specialists.

HOPE ON THE HORIZON:

Marianne Genetti knows first hand what it feels like be helpless because of an ailment. In 1991, she suffered a collapsed lung. She was having muscle cramps and was having difficulty breathing. Eventually, surgeons opened up her chest to find it full of fat. Her lung was 'glued' to her rib cage. In the past year, she found out her chest was filling again with fat. She was told she didn't have a lung disorder but most likely a metabolic disorder. "But there's no place to send me, no place to go," Genetti was quoted as saying. In 2006, she founded In Need of Diagnosis, a non-profit dedicated to helping patients who have not been diagnosed and to encourage steps to be taken to facilitate their diagnosis.

Last year, the National Institutes of Health also launched the Undiagnosed Disease Program to study some of the most difficult to diagnose cases. The main goals of the research project is to provide patients suffering from mysterious conditions with answers and also to advance the medical community's knowledge about diseases.


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