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.

Friday, January 27, 2012

Solving a Mystery

Contributed by Carole Cascia

I remember the phone call that started it all. My 21-year-old son, Colin, had been living in Philly for about six months. Though I had met his girlfriend a few times, she had never called me. The next four words changed our lives forever:

“I’m worried about Colin.”

She spilled out a story that would make any mother panic. According to Jess, Colin had been exhibiting some strange symptoms. I knew that he had developed pneumonia and pink eye since he moved down to Philly from our home in Connecticut, but I attributed that to not eating right and burning the candle at both ends, as many young people do: Nothing strange there. But what Jess was telling me now was a lot harder to explain or write off. Colin was always tired and was having such intense night sweats that the sheets would be soaked in the morning. His skin color looked funny—something between yellow and grey; and he had lost a lot of weight.

I was not yet in nursing school, but had read enough to know that these were classic cancer symptoms.

I told her to sit tight and that I would be down there this weekend. Immediately, I called Colin and told him that I was going to visit him. Then I booked a hotel and called my partner at work, telling her that we would be going to Philly that weekend. I also called our family practitioner and made an appointment for Colin for early the following week.

After checking into the hotel, I called Colin. It was 1:00pm: He was still in bed. I thought that this was odd, as he was an early-bird. We arranged to meet at the subway stop near our hotel at 2:30pm.

If Jess’ phone call had alarmed me, the sight of my son scared me witless. I saw him come up from the subway station, and immediately grabbed my partner’s arm and said, “My God, he’s got cancer.”  Aside from the weight loss, he was quite pale, and was moving like an old man. His hair looked like it was thinning. It was absolutely shocking.

We spent the next 24 hours asking him about other symptoms. He was always tired; he had a hard time thinking straight; and he was pretty sure that he had fevers once in a while. Then I noticed the patches. His shirt was opened a bit and I saw the petechiae: Tiny red dots on the skin of his chest and neck. I knew that this was a sign of leukemia.

I didn’t want to alarm my son, but I told him that he would be coming home with us, and that we would then go straight to the doctor’s office. He complained that he really thought I was overreacting, and that he was probably just run down. Of course, I would hear nothing of it. He insisted that he had something that needed to be taken care of on Monday, so I made him promise that he would leave Monday afternoon. He finally agreed.

Colin insisted on going into the doctor’s office on his own. When he came out, he reported that the doctor had told him to go to the ER. He was not sure why.

I requested to talk with the doctor. She came out, and explained that she had done a pinprick test to check Colin’s RBC. A normal count for a male should be a  4.7- 6.1, when she checked Colin his was a 2.  She told me that they were waiting for him at the ER.

Colin seemed undaunted by this information: He was still thinking that he was a little anemic, but I did not feel so confident.

If I had not been sure that something was wrong before we entered the ER, I was sure once we checked in. There was no waiting. Colin was immediately whisked via wheel chair to a private room. There they took a blood test and the jovial doctor went quiet and serious when he saw the results. Colin’s red blood cells and white blood cells were all abnormally low as were his platelets. Not just on the low side, but life-threateningly low. I could hardly breathe, and now Colin was starting to worry. Within minutes there was a team of oncologists surrounding his bed, quick-firing questions: Had he been exposed to any chemicals; had he ever been tested for HIV; had he been out of the country… None of this was making any sense to either one of us, and when the doctor’s finally left us alone for a minute Colin looked at me and shakily asked me if he had cancer. I couldn’t answer his question.

The head oncologist pulled me aside, and said that he suspected that Colin had leukemia. In order to confirm or discount this diagnosis he would need to take do a bone marrow test.  Of course we agreed.

Over the next few weeks Colin had many tests but instead of answering our questions, it just seemed to lead to more questions. After leukemia was ruled out, the doctors thought Colin had ITP, but then why the low white and red blood counts? None of it seemed to make sense, but we did know that nothing was working. They tried transfusions and steroids, but still his counts were perilously low. They might climb for a bit, but they always crashed.

A diagnosis was finally confirmed after a positive Coombs test. Colin had Evans Syndrome. Of course, this was not something that anyone was familiar with, even Colin’s doctors. When I went home to try to find some more information, all I could find was a brief description of this strange disorder.

The next year was a haze of doctors’ visits and endless hospitalizations. Nothing seemed to get this damned Syndrome under control for any length of time, and my poor child was sinking into a depression as life went on and he was stuck either at home convalescing, or in the hospital. It was finally recommended that Colin have a splenectomy. It might put him into remission, and his spleen was very swollen and could rupture. It would be safer to remove it. It was a dangerous move, as his white blood count was still very low. He had a private room, but despite the best precautions, he ended up with endless complications after the surgery including: pneumonia; pleural effusions; and staph. To make matters worse, the splenectomy did not bring his counts up.

At times it seemed like he would never get out of the hospital and live a normal life.

After doing some research, I saw that Rituximab had been used successfully in the treatment of Evans Syndrome. The research was new, and certainly not overwhelming, but we needed to try something!

We went in for his first round of Rituximab, and I remember looking at all of the other patients in the room where they were getting chemo. I realized that my son looked sicker than any of them, even though he was, by far, the youngest person in the room. It was, again, a moment that I don’t wish on any mother. 

After three rounds of Rituximab all of Colin’s counts went up to normal. We held our breaths each week when we went in for his blood test; but each week they were holding steady.

Finally the doctor said what Colin had been waiting to hear—“You  can go back to Philly, and resume your life!”

We are one of the lucky families. Colin has been in remission for six years. He continues to get his blood tested by a hematologist in Philadelphia, but he is living a full and normal life.

As time goes on we worry less and less, but until there is a definitive cure or treatment for Evans Syndrome, we will never feel completely comfortable.

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