Thursday, December 21, 2006
Solving your medical mysteries
When I met Dinh Thai, he had endured a near-constant facial twitch for three years and was excited about the brain surgery that would eliminate the spasms. The twitch had disrupted his sleep, his social life and his professional world for long enough. It went on for three years because no one could diagnose the rare condition (a hemi-facial spasm) properly. He had seen a neurologist, an ophthalmologist, an acupuncturist and a dermatologist, as well has his own family doctors. Finally a friend of a friend referred him to a neurosurgeon, who diagnosed the disorder within seconds.

Thai's long road made me wonder what resources are available for people like him, who have a condition that turns out to be something rare and difficult to diagnose, but that does have a treatment. There are some online resources that people can turn to. You can search the National Library of Medicine database for key words related to the condition. For example, the first four results from a search for the words "facial spasm"contained the words, "hemi-facial spasm."

Another place to look is the National Institutes of Health Genetic and Rare Diseases Information Center. These sites can help patients be proactive about finding answers and can serve as starting points to discuss with a doctor in hopes of pinpointing the actual condition.

A couple of other pointers: It's always OK to ask for a second opinion. Another doctor in the same area of specialty might have a completely different diagnosis based on his or her experience and realm of knowledge, so don't be afraid to ask. Also, a patient should examine his or her own family health history with a doctor to identify any possible clues that could lead to a cure.

I hope you find this information helpful. I'm also curious: What other online medical and health resources do you use?
As a pre-med undergraduate, I have found that watching television can actually teach me a great deal about rare medical conditions. Discovery Health programs, especially, present rare cases in both an engaging and informative manner. The shows often include testimonials from doctors and nurses, as well as the patients themselves and their families. When I mentioned the channel to my own doctor, he readily admitted to watching often and learning a great deal himself!
Diagnosis of a rare condition is something near and dear to me. It took almost two years to get my diagnosis of Marfan syndrome. I did a lot of research on my own. I would bring the results of my research to my doctors. In general, my local medical community did not want my help and did not want to believe that there was anything wrong with me. I "fired" one doctor and was "fired" by two other doctors. I finally referred myself to the Mayo Clinic, where I was diagnosed. My recommendations... (1) immediately fire any doctor who calls you a "zebra," (2) immediately "fire" any doctor who leaves you sitting in the waiting room past your appointment time while two or more pharmaceutical reps freely roam the halls, and (3) if you are having a medical problem that your local doctors have not been able to diagnose, go to a nationally/internationally recognized diagnostic clinic, like Mayo. Such clinics are not just for the rich and famous.
Dr. Gupta, I thank you so much for posting this particular topic. I am a so called healthy 25 year old female with no known issues or disorders. However for the past 7-8 moths I have been suffering from dizziness and feeling of imbalance. Before that I have been suffering from Vertigo attacks over a period of 6-7 years and no doctor was able to let me know why, but this year it change from vertigo attacks to milder but constant dizziness. I have had an MRI, a VNG, a Lumbar Puncture and an EEG done- all with normal, healthy results. ENT and multiple neurologists have ruled out inner ear or migraine or female issues. My blood and hormonal results are perfectly normal, you could say I am totally healthy. But because of this dizziness which is followed by a mild to moderate feeling of squeezing pressure in my head and nausea, I have had to stop most of my daily activities. I stopped school, work, driving and social life because I dont feel right in my head. To me it appears as if the dizziness originates from my eyes due to movement around me, i.e scrolling down to read a news article on CNN. I am frustrated and a bit scared, because no one has been able to figure out whats going on. Its a bit tough to find info online or in books because the terms are so medical. I am begging you for some advise. Thank you for your time!
Thank you for posting the article! I've been going through something very similar myself (twitching around the mouth), and nobody has been able to diagnose my condition yet. Unfortunately, there are no good resourses out there for people suffering from facial twitches. It helps to hear about similar conditions though, so I don't feel as a total freak at my 23 years of age.
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