Tuesday, January 31, 2012

Our Journey through Evans Syndrome

Contributed by Nicole Gofman
Mom of Zachary, Age 8

Zachary was diagnosed with Evans Syndrome at the age of 5, after a 17-day stay at the Children’s Hospital of Philadelphia. Our journey started on the Fourth of July weekend while visiting family. Zachary had an infection on his leg and suddenly spiked a fever; when we brought him to the emergency department we were told that his white cell count was zero. We were admitted, and Zack underwent blood tests, cultures, MRIs, and a bone-marrow aspiration: All the while, as parents, we felt so helpless; scared; angry that we couldn’t do anything to make him better.

The doctors told us that Zachary has an auto-immune disease—either Autoimmune Lymphoproliferative Syndrome (ALPS) or Evans Syndrome. We were relieved that they had finally determined what was going on.

“Don’t Google them,” is what our hematologists said: Of course that’s the first thing we did. Not much information was out there about either disease, and what did turn up was scary.

Zack was treated with a combination of IVIG and steroids, and put on Nupogen. Finally his counts returned to normal. We were sent home to return to the out-patient clinic.

Since that Fourth of July weekend Zack has had problems with his white cells, red cells, and platelets. He has been on Sirolimus and Cellcept;. He’s had a Rituxan treatment, numerous hospitalizations, and more IVIG infusions than I can conveniently count. He has had bouts of autoimmunity evident in his brain and, most recently, his GI tract. We still haven’t found the “right” medicine for him, so he has been on steroids, of varying dosage, for the past 16 months. One thing is for sure, this disease sucks.

Even through all of this Zack is a well adjusted, happy child; he enjoys karate, video games, and Pokémon. I only hope that one day we will have the answers we need to manage Evans. In the mean time, we will enjoy all the healthy times, and cherish our moments of fun. We will nurse him and love him through the bouts of bad. Because that is what being an Evans parent is all about.

Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

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