Debbie Knight

A reminder (to me) why I do research

In observation on July 5, 2012 at 9:00 am

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.

She wrote:
“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.

  1. […] I got a comment on a blog post from July. ”A reminder (to me) why I do research” was about a heart-rending email my boss received from a […]

  2. Hi, I don’t know much about blogs or if you are anyone will ever read this comment. I have Susac’s syndrome i am from Ireland and i am the first known case here. I am 36yrs old now. They discovered it because i was brought into hospital with what they initially thought was a nervous break down at Christmas. I lost my hearing and went blind but that wasn’t discovered for a week or so. All my blood tests were normal but this is because they were giving false readings. My doctor discovered lesions on my brain and with all my other symptoms began to realise what was happening.. They were able to start me on treatment, Steriods and Cellcept and HIG.. I have now been left with partial hearing in both ears and i am blind in one eye completely and have partial sight in the other, my memory is getting better. I am very lucky and i Thank God that i am still alive to be able to watch my 16yr old daughter grow up. If you have any information on other cases that have got better from it or have any information on other people’s circumstances i really would love to know.

    • Unfortunately not much is know about what causes Susac Syndrome, although it is considered to be an autoimmune disease — which is why steroid and immunoglobulin therapy is used.
      My lab is trying to identify what the immune system is targeting and develop a blood test. But grant funding is difficult to obtain these days.
      VERY DIFFICULT. So, our research efforts have slowed considerably.
      Dr. Rennebohm at The Cleveland Clinic has worked to establish The Susac’s Syndrome Consultation Clinic. One of his efforts is to collect blood samples from patients with Susac Syndrome so that research can be done. It might be helpful to contact him about providing a blood sample.
      Many Susac Syndrome patients who are treated early enough in their disease process with steroidal and immunoglobulin therapy can stop the loss of sensory and brain function and, in some cases, have some of their impairments restored. Dr. Rennebohm could probably offer you more information — he and his team are the leading experts on this syndrome.
      I wish you the best!

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