My boss received a heart-rending email from a woman who may have the disorder we are studying in our lab: Susac’s syndrome.
This syndrome is thought to be caused by damage to the tiniest of blood vessels (the microvasculature) in the brain (especially in the corpus callosum, a band of fibers that allows communication between the two halves of the brain), in the inner ear (which can cause hearing loss), and in the retina (which can cause vision loss). Because the symptoms do not always occur at the same time, it is difficult to diagnose Susac’s syndrome. In many cases the syndrome resolves within a few years, but not without leaving behind permanent damage. Steroid therapy sometimes helps slow its course, but there is no real cure at this time.
“I have seen numerous doctors and done numerous tests. I think I have done every lab test at least two, maybe three times. I get daily headaches, body aches, and I am having trouble concentrating, spelling, and reading. I have two boys that are both very physically active, and I used to be able to keep up with them. But that is even a chore anymore. I’m only 41, and this just isn’t me. It has been a very difficult year. And it has affected work and is starting to affect my marriage.”
She goes on to ask if we will test her blood to see if it behaves similarly to patients with confirmed cases of Susac’s syndrome.
What she is looking for are clinical test results, something that we cannot give her because we are a research lab and there is, as yet, no approved diagnostic test for Susac’s syndrome. We are not sanctioned to perform a clinical test on human subjects.
We expressed our sympathy and invited her to participate in our research by sending us a blood sample (with a signed consent form). But that is about all we can do for her, except continue searching for biological answers.
I admire her “take-charge” attitude, seeking answers to her medical mystery. I’m sure I would do the same thing in her situation.
But I hope she is wrong. I hope she doesn’t have Susac’s syndrome but instead has something simple to treat and easy to resolve.
In the meantime, I will work even harder on this research with the renewed understanding that there are very real people out there, with very real symptoms that have profound effects on their lives.