Variegate Porphyria (VP)
Robert Dawson has a different take on the difficulties so many patients have with finding a diagnosis for a rare disease. Having been diagnosed with Variegate Porphyria (VP) for several decades now, Robert is often called on by the doctors he sees at a teaching hospital in the Midwest to help train medical residents in the diagnostic process. Robert says he's happy to volunteer because he understands the importance of rare disease training and the challenge of finding new and interesting ways to humanize the porphyrias for practicing doctors.
Robert hopes that the experience of speaking with and examining him will help these doctors remember that sometimes it really is necessary to consider a rare disease diagnosis. He also hopes as so many porphyria patients do that maybe these young doctors will recall Robert's experience and that what they learn from him will enable them to help other patients to prompt diagnosis and correct treatment.
Acute porphyria can be a challenging diagnosis to make: running tests for porphyria and analyzing the results both take practice, and most labs do not perform these tests routinely. Porphyria experts recommend sending test samples to a specialty lab that has experience in evaluating the results, and of course the treating physician must suspect porphyria before she or he orders the tests. Acute porphyria is often called the "little imitator" because its typical symptoms—acute abdominal pain, rapid heart rate, increased blood pressure, nausea, vomiting, constipation or diarrhea, dizziness and fatigue, weakness and sometimes paralysis—are shared with many other more common conditions.
In Robert Dawson's case, the diagnosis may be a little bit trickier than usual because until recently he was not too strongly affected by neurological symptoms like severe abdominal pain that occur in acute porphyria and are seen so much in Acute Intermittent Porphyria (the most common of the acute porphyrias). Robert's main symptom is photosensitivity, which is severe when he is directly exposed to the sun, and causes him problems when he is hit by reflected light too. Robert tries to prevent damage to his skin by covering up with long pants and long sleeves, and by wearing gloves and a hat when he is out of doors or driving.
Even for patients with classic symptoms of a rare disease, an accurate diagnosis can be hard to come by. With more than 7,000 rare diseases, it's no wonder that doctors sometimes fail to recognize their symptoms and miss a diagnosis. It's wonderful of porphyria patients like Robert Dawson to offer future patients the benefit of their own experience by educating physicians about the disease.