I'm glad to see people posting to the list again. I have been meaning to send an update on my son for some time now, but never seemed to get to it.

When I last wrote my 15 year old son was about to have a lymph node biopsy. This was because we discovered that he had enlarged lymph nodes throughout his body and nodules in his lungs. It was a long 10 days waiting for the results but, much to everyone's relief, there was no signs of malignancy. There was atypical lymphoproliferation that was classified as follicular hyperplasia. All kinds of infectious causes have been ruled out, so at this point the assumption is that this all somehow related to his autoimmune issues.

 

I can't thank you all enough for sharing your stories and experiences with me before he had this procedure. The long wait for the results would have been unbearable if I hadn't read of all your stories and known that there was a strong possibility that it was not a malignancy - just another unusual exacerbation of this very perplexing disorder. Thank goodness for the internet and this list connecting everyone! 

 

The NIH is very interested in studying my son because he has an unusual t-cell defect. As I understand it, his t-cells don't die off like they should the second time they come in contact with an antigen. The thinking is that this defect might very well explain the lymph node enlargement. My son is the only patient that they have found this defect in consistently, so they would like to find more patients like him. Specifically, they are looking for patients with Evan's Syndrome who have also been found to have a poor response to vaccines (indicating some sort of underlying immune dysfunction).

 

We went to the NIH in February so they could run more tests on my son (and take lots more blood samples). The researchers seem to think that understanding this defect may lead them to understand more about autoimmunity in general. I am more than happy to offer our help for any study that will lead to some answers, even if it won't necessarily find a cure.  If anyone thinks they might meet this criteria and are interested in more information about the study, please let me know and I will get the contact information. Patients can't refer themselves to the NIH, you would have to be referred by your physician. Once you are accepted into the study all expenses are paid for tests, treatments, travel, lodging, etc. It's our tax dollars at work!

 

Thank you again for all your responses to my past posts. I appreciated it more than I can possibly express.

Susan A.