Ella's Evans Syndrome Story

Contributed by Libby Gray

For the first two and a half years of her life, my daughter Ella Rain was healthy. She was my first child and watching her grow up has been an experience sad and thrilling and terrifying all at once.  For the first two years of her life she a healthy, happy, beautiful, outgoing little baby girl.

New Year’s of 2004, when Ella was 29 months old and I was pregnant with her little brother, we went to a friend’s house for dinner.  My toddler ate nearly as much as my friend—a large man in his late 20s! That intense hunger was probably the first symptom we noticed.

Over the next several days she began asking for cup after cup of water, and was going through more diapers than she had as a newborn.  I contributed it to a urinary infection, or a growth spurt, or her being jealous of me and the baby.  I took her to the doctor, who said she just had a yeast infection in her diaper area and gave me some steroid cream that did no good.  My little girl was becoming different…she was whiney, tired, clingy and thirsty, thirsty, thirsty.

On February 9^th, 2004, Ella woke up vomiting in the middle of the night. She cried incessantly, begging for water, drifting in and out of sleep and complaining her eyes hurt, her legs hurt, her head hurt.  I tried to brush it off as just the flu, but my heart wouldn’t let me. I didn’t know what, but I knew it was something bigger. That afternoon, my husband got on the phone with the doctor who, in turn, told us to go straight to the hospital.

To shorten this long story, it was on that day that Ella was diagnosed with Type One Diabetes, an autoimmune disorder in which the immune system destroys the insulin-producing cells of the pancreas. Her blood sugar was nearly seven times the normal level, her blood chemistry was messed up, she had lost 8 pounds in six weeks, and was less than 12 hours away from a diabetic coma.  Suddenly we were thrust onto a steep learning curve of insulin injections, carbohydrate counting, and constant monitoring and vigor to balance a delicate hormone that could save a life or take it.

As time went on, diabetes became our “new normal”, and started to fade into the background of our everyday life. Ella was diagnosed with other autoimmune conditions over the next few years: Hashimoto’s hypothyroidism, severe allergies, and asthma. 

But our Evans story begins around December of 2008, when Ella was seven years old. At first I thought she might be getting sick, or in a growth spurt: She began experiencing relentless high blood sugars, having nosebleeds and being so weak and tired during the day she was taking napping more than her baby sister.  Next came the bruises that covered her body as if she’d been in a fist fight, the cold and ear infection that never quite went away, and the way I noticed her working just a little harder to take each breath.   

I was used to seeing a rainbow of colors from Ella: pink cheeks flushed from excitement and playing in the sun; ghost-like paleness from a low blood sugar; greens and browns of dirt and grass staining her knees from a hard day of play; marker, pencil, and paints of various shades covering her hands because her creative brain felt like making something.  But this was not a good rainbow to spot: she appeared deathly grey, with dark circles under her eyes; covered in purple bruises; and the whites around her hazel eyes just slightly yellowed.

Shortly after the New Year of 2009, Ella woke up with a 103F fever, blood in her urine and out her nose, and 450 blood sugar (her range is 80-150, and we rarely see numbers that high unless she’s very sick, we seriously miscounted carbs, or there is a problem with her insulin pump). She just looked like death warmed over.  Completely terrified, we decided not to waste time at the pediatrician’s office, and I took her straight to the ER.

They immediately started running blood work and found her hemoglobin and platelet counts to be severely low. She was admitted, given antibiotics and a blood transfusion, and the whirlwind of tests began to find out what was wrong.

I remember the first night: I sat by her bed and just sobbed. Why Ella? Why my family? She’s such a good girl and she’s already been through so much. Why can’t she just be left alone? The C-word was thrown around, but I refused to let it enter my mind. Lymphoma and leukemia—such big, horrifying diseases that just don’t happen to little girls who spend their time crafting, reading for pleasure, and doing cartwheels through the grass.

On January 10, 2009, after almost four days of testing on her urine, blood, and bone marrow, a direct Coombs test revealed the duel diagnosis of ITP and Autoimmune Hemolytic Anemia—Evans Syndrome.  I asked my husband, who was at home with the other two kids and the computer, to Google this bizarre disease.  He found nothing but horror stories and brief descriptions. I so wish we had found the Evans Syndrome Community Network (ESCN) at that time.

The pediatric hematologist explained the vicious attack her immune system was inflicting upon her body, and that the best way to stop it was a strong course of steroids to combat the attack. Steroids can make even a non-diabetic resistant to insulin, so her already-high blood sugars skyrocketed to five and six times the normal levels. I worried about the formation of dangerous ketones. Ketones are the by-product of high blood sugars as the body attempts to break down fat instead of glucose for energy.  She was already sick and developing trace ketones. I didn’t want to risk DKA (diabetic ketoacidosis:  a life-threatening level of ketones in which the blood is acidic and there is no way for the body to get energy from food.)

She was released from the hospital four days later, and for the next several weeks we walked a dangerous tightrope. The steroids stabilized her hemoglobin and platelets to around 10 and 30,000 respectively, but they sent her blood sugar soaring. I doubled, tripled, quadrupled her insulin dosages around the clock, but days were rare we saw a number under 200. In addition to the immediate risk of DKA, the paralyzing fear of future heart, eye, kidney, and limb damage from relentless highs kept me wide awake at night. As soon as we began tapering her off the steroids, her blood sugar would come down, but so would her hemoglobin and platelets. She ended up back in the hospital three times in two months from low platelets, low hemoglobin, or scarily high blood sugars with ketones.

By March, we’d all grown frustrated beyond belief with the battle between diabetes and steroids and I longed to see my daughter well.  It’d now been four months since she felt like a normal child—she was always tired, nauseous, thirsty, and dizzy from the high blood sugars or the Evans.  We both cried a lot in that time. Our whole family was missing the spunky, creative, energetic little girl we’d known just a few months prior. I begged our hematologist for another option. He suggested IVIG.

In April, we began the monthly infusions. After some trial and error with working out the horrendous headaches she would get from them, she started to respond very well. Her platelets went up to 60,000; 80,000; even 110,000 and her hemoglobin climbed, too.  While she didn’t particularly enjoy sitting for 5 hours in a doctor’s office every three weeks, we were all thrilled with the progress she was making. With the exception of our treatment days every few weeks, life was getting back to normal. Ella was getting back to normal.

On June 15^th, exactly one week before her eighth birthday, we began seeing dramatic drops in Ella’s white blood cell counts. We knew it increased her risk of infection, so we tried our best to keep her isolated…but in a houseful of small, social, germy children that was nearly impossible.  So began an uphill battle with chronic sinus and ear infections that would take two and sometimes three rounds of antibiotics to clear up before they would just return again. The infections also would drop her platelets and hemoglobin, trigger her asthma, cause roller coaster blood sugars, and make her just feel miserable. She went back on short courses of steroids, during which we struggled to control her blood sugar even more.  I tried every method I knew to protect and clean her sinuses and ears to prevent these infections: Neti pot washes, saline spray, fresh juice, homeopathic ear drops, garlic oil.  It helped some, but her weak immune system just couldn’t fight off these infections.

At the end of the summer, a nurse at our endocrinologist’s office recommended papaya leaf extract for low platelets, saying she knew a young leukemia patient who had great results with it for his platelets. A big fan of homeopathy, I ordered a bottle and gave it a shot. I gave her a large spoonful each morning  on an empty stomach, and her platelets shot up just as well as any IVIG treatment. We used it for about four or five months and her platelets haven’t been below 80,000 since then, even after stopping the extract.

While the papaya leaf extract stabilized her platelets, Ella still struggled with repeated infections, low WBCs and recurrent anemia. Her numbers would go up for about two weeks, then crash steadily in the remaining week or two before her next treatment. In October 2009, she was hospitalized for a week and a half for bronchitis, complicated by the Evans Syndrome, diabetes, and asthma. What a nightmare! In the prior months, we’d also had several overnight trips and 24 hour stays in the hospital to correct high or low blood sugars, ketones, and dehydration from stomach viruses and other infections.

We continued with steroid bursts, papaya leaf extract, IVIG, and round after round of antibiotics for the next year. She had a period of about two months in early 2010 when her numbers were very stable and treatment was working well; then her counts started to fall again.

In May of 2010, shortly before she turned 9, Ella had sinus surgery and ear tubes placed in an attempt to relieve the chronic infections. It didn’t get rid of them completely, but greatly cut down on the number of infections she got, and improved her quality of life.  The IVIG kept her stable for another month, so much so that her hematologist wanted to begin lowering her dose. That didn’t work well at all. Her counts fell drastically, her symptoms returned, and it took another round of steroids (and super high blood sugars) to pull them to safe levels.

After a failed, vomit-filled trial of Cellcept in August and September, Ella began the drug Rituxan in October 2010.

(Now might be the time to mention that in the midst of this chaos, we had a baby girl in August, and began fostering a four-year-old boy the week before Ella’s first Rituxan treatment. Instead of dragging all these kids with me to the hospital every two weeks, my husband graciously took Ella to all of her twice monthly infusions.)

Rituxan was a wonder drug for Ella. That, in addition to all our other measures, stabilized her counts drastically in a very short amount of time. For the first time in almost two years, she could play like a real little girl again—she could run outside with her siblings and not get tired. She could turn cartwheels and not be covered in bruises and blood. She wasn’t so sick anymore. She was Ella at last.

She took her last IVIG on December 10^th, 2010, and her last Rituxan shortly after the New Year.

On February 9^th, 2011—ironically the 7^th anniversary of her type-one diagnosis—Ella was officially declared in remission and has remained there for just over a year. 

I thought having a toddler with diabetes and a new baby was the hardest thing I ever went through. Little did I know I would deal with diabetes, Evans Syndrome, and five young children (now six—we adopted again in March 2012). 

Ella Rain is a trooper through all of it and the strongest person I know.  On our journey with Evans, she cried, she got angry, and she got scared. But through all of it she found a way to be her quirky, outgoing, positive self, even when dealing with the worst of it all. She’s been recently diagnosed with Celiac Disease (January 2012) and is adjusting to a gluten-free life with grace. 

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

Colby's Journey

Contributed by Amber Wakefield

Our journey began in April of 2010, so we are “babies” on this trip! My son, Colby was in 7th grade--a normal 13-year-old who liked to play sports, was busy with his church, and was, overall, a great kid. He still is!!

Colby started coming home from school with huge bruises on his arms or legs. To be honest, I thought he was being bullied at school, and somebody was hurting him. He kept on insisting that the bruises were from basketball or games in PE. Well, the mom’s intuition kept nagging in the back of my brain and time went on for a bit more, but I always felt as if something was wrong.

The next things we noticed were huge-looking hives, along with the bruises. Benadryl would make them go away for the duration of the medication but they would come right back. Finally, I took him to our family doctor, and he, thinking Colby was allergic to something, referred us to an allergist. So…to allergy testing we went: No allergies were revealed, so a blood test was written up. We went later that same day to have his blood drawn, and then headed home.

So began our entry into the world of a thing called Evans.

At 4:00 a.m. the next morning the allergist called to tell us Colby needed to go immediately to Children’s Mercy Hospital. My husband didn’t understand what the doctor was saying, so I took the phone. The doctor proceeded to tell me that Colby's platelet count was at 4 (or 4,000, as I would later come to learn). Too many numbers and not enough explanation; they are all still so confusing at times! The doctor also explained that if we didn't go, Colby could bleed to death. So we lay in bed and, of course, I cried: The immediate thought in my head was that it was cancer or leukemia of some sort.

We decided Colby was safe in bed, and so waited until his two older sisters were up for school and told them what little we knew. They were a little upset but headed off to school with lots of texts going back and forth. We got Colby up, and told him about the phone call. We explained that we needed to head to Children’s Mercy in downtown Kansas City.

As testing continued, I realized how blessed we are to have a Children’s hospital within 20 minutes of our home. I ran into many people that traveled for hours for their child’s treatment, or would have to use the wonderful downtown Ronald McDonald House facilities. I will never complain about traffic, or the drive, because we could always come home or have family come to us.

By this time, I am a mess but trying to contain it for my son’s sake. I didn’t want him to worry or be afraid. They kept taking more blood, and finally put in a port. My prayers increased. They started off telling us Colby had ITP but more assumptions were to come. Cancer was on the list but pretty far down. The doctor-on-call saw my reaction to the work and, again, tried to reassure me that cancer probably wasn’t causing the anomalous blood counts.

Eventually they took Colby up to the hematology/oncology unit—no comfort at all. My heart ached for these parents and all they have had and will continue to endure. I still pray for those families and what must undergo. As a side note, my freshman daughter, who plays soccer, was participating in the annual Cancer Battler Cup against their rival high school. I had that T-shirt on and was still reminded of what could be.

Colby received two bags of platelets that evening but they were eaten up within 12 hours, his counts returning almost back to where he began. This gave the doctors the direction to lean to Evans and away from cancer. My husband, who never cries, broke down in tears. He had been in Colby’s room praying for him and was relieved as we all were!!

So now the Google searches began! We did exactly what they told us not to do because there wasn’t much (and still isn’t much) information out in cyberspace. We also found out his red and white counts were low but not too bad.

They sent us home the next day with orders to come back later the following week for a bone marrow aspiration. We learned this was needed in order to confirm the “no cancer” diagnosis, since steroids are the first treatment generally given for Evans. With that test behind us, and again no cancer, Colby went on an horrendous regiment of steroids, to the tune of 300mg.

It is appalling what this drug (corticosteroids) does to the body!! Colby lost a part of himself during that time. My son who normally is loving, outgoing, and will laugh at anything, became withdrawn, depressed, and quiet. He hated it, I hated it, but most of all kids at school found something for them direct their stupidity towards. He started his 8^th grade year, looking like somebody else and feeling abnormal. We almost pulled him out to home school but he wanted to keep on going and things eventually calmed down. His school was great and did whatever was needed to accommodate him.

“Remission” lasted almost a year. Colby was and still is good about pointing out bruises or rashes. We went back in and blood work showed a big drop again so this time they did rituximab but without steroids!! Colby asked me in the car on our way home after finding out his counts had dropped, “Do I have a say in all of this?” I said, “of course.” This was the day he decided, never again on the steroids unless it is the only treatment!!

Four rounds rituximab of later, Colby has been in another “remission” for almost a year now!! His last set of blood work showed even more of a raise in platelets, red, and white cell counts. We don’t have to go back to the doctor for another 6 months, unless he shows signs of its return.

All during this time, our church prayed and continues to pray for Colby. There is much comfort in knowing others are on this road with us, and that no matter what happens, the Lord will never leave us. The end result may not yield what we want, but the lessons learned will always be priceless.

Colby has given up the sports but has found a new passion with acting and singing. He found his voice in a new way and has a heart that is bigger than a mom could ever imagine. For that, I am grateful for this path called Evans.

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

Evans Syndrome in a Nutshell

by C. McNamara Romanowski
DISCLAIMER: This document is being written by a layperson who has Evans Syndrome, not a healthcare professional. The information presented herein is provided with the understanding that it is not "gospel", as it were, but a frank look at Evans Syndrome facts and statistics from a layperson's point of view. This information should never replace advice given to you by your doctor or other healthcare professional.  
Evans Syndrome is an uncommon condition defined by the combination (either concurrently or sequentially) of an attack on two or more lines of blood, including red blood cells (Autoimmune Hemolytic anemia), platelets (Ideopathic Thrombocytopenia or ITP), and white blood cells, also known as leukocytes. This occurs when the immune system mistakenly targets these cells for destruction, and the spleen subsequently destroys them. Autoimmune cytopenia can be a sign of systemic autoimmune disease, such as Lupus or other connective tissue disorder, and the patient should be tested appropriately. (Mikhail Shtivelband, MD, PhD, and http://www.ncbi.nlm.nih.gov/pubmed/16398647)

A common misconception that we see in the general public seems to be: "If it's not cancer, then it must not be serious." It's true that Evans Syndrome is not cancer: It is not true that Evans Syndrome is not serious. Evans Syndrome is very serious. A report in the Journal of Pediatric Hematology/Oncology showed that Evans Syndrome has an approximately 7% mortality rate after 3 years. (http://journals.lww.com/jpho-online/pages/articleviewer.aspx?year=1997&issue=09000&article=00005&type=abstract) This study was published in 1997, and treatment has changed since then, so the mortality rate may not be quite as high today; however it is the only solid statistic with regard to mortality that can be provided in the text you are currently reading.

In order to obtain a diagnosis of Evans Syndrome (ES), certain other health problems must first be eliminated. For example, the symptoms of ES are very similar in nature to leukemia and lymphoma. As a result, both leukemia and lymphoma must be ruled out prior to a diagnosis of ES. A bone marrow biopsy is done to closely examine the body's mechanism for blood cell creation. A battery of blood tests reveals that there is no other reason for the low blood counts, as well as the presence of antibodies that are targeting healthy blood cells for destruction (Coombs test).

While awaiting diagnosis, blood transfusions may be given, as well as Intravenous Immunoglobulin (IVIg), which coats the blood cells, protecting them from destruction; and IV steroids, which slows down the immune system, helping to shut down the mechanism that is destroying the blood cells.

Once a diagnosis of Evans Syndrome is obtained, aggressive therapy is undertaken in order to shut down the immune system reaction to the blood cells. Most frequently this is done with very large doses of corticosteroids such as Prednisone or Decadron. Evans Syndrome does tend to be refractory to treatment, in which case additional medications may be used, including but not limited to certain chimeric monoclonal antibody treatments (Remicade, Rituxan, etc.), and anti-rejection drugs (Imuran, Cellcept, Cyclosporine, etc.). 

If a person with ES still does not respond to treatment, or should they continue to experience refractory episodes, splenectomy (removal of the spleen) may be considered. This is an invasive procedure that leaves the person without all of the body's natural defenses to infection. Because of this, a person without a spleen is wise to take extra precautions to prevent infection or exposure to illness throughout the rest of their life. Unfortunately, splenectomy is not always successful, sometimes requiring further treatment with the aforementioned drugs even after removal of the spleen. 

There are cases where no amount of drug treatment or surgical intervention helps, and the doctors may then recommend a bone marrow transplant. This is a very dangerous procedure, as the person must be given a battery of drugs to kill off their immune system, and then receive bone marrow stem cells from a donor. Marrow transplants for cancer can be done with autologous cells (taken from the person who is also to receive the transplant), however it is the understanding of this author that this is not the best choice for a person with Evans Syndrome.

Evans Syndrome has no cure. Today, the best that can be hoped for is lifetime remission. ES is considered to be an "orphaned" disease, as almost no research has been done. The reason for this is that there are so few people with ES that it is not fiscally responsible for drug companies to do research into a treatment or cure.

We are the Evans Syndrome Community Network, a non-profit organization serving those who are affected by ES. Our mission is to provide a safe place for networking between individuals whose lives have been impacted by Evans Syndrome (ES); to make available scientific and educational material, online and in medical environments, fostering learning about ES among our Community and the general public. We will assist families affected by ES with travel, lodging, and medical expenses; collaborate with other organizations that share our vision, and fund autoimmune research to benefit our international Community.

Should you need to contact us directly, for any reason, please drop us an email.
Thank you for asking about Evans Syndrome. Together we will make a difference, standing shoulder to shoulder.
Copyright © 2012 by Evans Syndrome Community Network. All rights reserved.

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.

What is this thing called Evans Syndrome?

by C. McNamara Romanowski

Evans Syndrome...Most people have never heard of it. Most health practitioners don't even know what it is.

Evans Syndrome is a combination of autoimmune hemolytic anemia and idiopathic thrombocytopenia. What does this mean? It certainly doesn't mean you need to take iron. It doesn't mean you need a "cleanse". It's not something that can be cured with magnets or homeopathy.

Evans Syndrome may rear its ugly head at any time during a person's life. The mean, or average age of diagnosis of Evans Syndrome is 7.7 years.

Evans Syndrome is a perfect storm, when the body's own immune system targets the red blood cells and platelets as organisms foreign to the body, and then the spleen destroys them. People with active Evans Syndrome have trouble clotting blood, causing a tendency to bruise and bleed. The skin on the hands and arms, feet and legs, and torso may reveal tiny, pinprick-sized red or purple dots called petechia, which are formed by little hemorrhages under the skin.

Another thing that happens is destruction of the hemoglobin, the protein in red blood cells that gives them the red color. It is this part of the cell that carries oxygen to the rest of the body. A person with active Evans Syndrome may experience tissue breakdown or even congestive heart failure.

After reading the above paragraphs, you may wonder why the spleen isn't just removed, thereby taking away the destructive factor. Well, the body is an amazing and wonderful thing, and it can often find alternative means of protecting itself. Hence, removal of the spleen is only permanently effective in 30-70% of cases (depending upon which study is examined); and then the patient is left without one of the body's main defenses. Our spleen is not like our appendix. We actually need the spleen: It is used to fight infection in the body.

Usual course of treatment to combat Evans Syndrome includes intravenous immunoglobulin (IVIG) and a long course of very strong steroids. IVIG is only a short-term solution because it is extremely expensive and it does not produce remission. IVIG works by making blood cells slippery, and, in a way, fooling the immune system into ignoring them. IVIG is very expensive expensive because it is a blood by-product that requires the donations of anywhere from 5,000 to 30,000 people.

At some point in most the lives of most people, small doses of steroids are given to treat things like allergies or back pain. Steroids are superb anti-inflammatories. There is a problem, though: Steroids are what may be called a "sweet poison". The benefits, especially of long-term treatment, must be weighed with the detriments. Steroids are immediately addictive. Not only that, but they can cause a host of other problems including, but not limited to: Cushing's syndrome; diabetes; osteoporosis; cataracts; glaucoma; kidney failure; thinning of the skin; morbid weight gain; and immunodeficiency. This last side-effect is why steroids are useful in the treatment of Evans Syndrome: They effectively shut down the mechanism that is being used by the body to attack the blood cells. Eventually, though, the steroids must be tapered and then stopped. At this point the body either begins the attack anew, or the person goes into remission.

The next line of treatment can involve the use of any number of drugs, including full-blown IV chemotherapy. Sometimes chemo drugs such as imuran may be helpful, and there are a couple of newer drugs that encourage the production of platelets, also serving as a deterrent. That said, however, there is no real "magic bullet".

Many hematologists turn to Rituxan, a sort-of genetic therapy which is manufactured from the ovaries of genetically-altered Chinese hamsters. Who thought of this? I have absolutely no idea. Rituxan was first used to treat leukemia, and later lymphoma. Since the symptoms of these cancers are similar to the symptoms of Evans Syndrome, it was decided to try the treatment on a patient with Evans. Because of its effectiveness in treating Evans, Rituxan has also been used to treat other autoimmune illnesses, such as Lupus SLE and rheumatoid arthritis.

Rituxan is usually given in 4 doses over a 5-week period. There are almost no side effects except those which may occur during infusion: Because of this, precautions for anaphylactic shock should be taken while the treatment is being administered. Rituixn has about a 70% rate of response in children, and about 50% in adults. Results may start to be seen anywhere from 2-6 weeks after the last infusion. If Rituxan doesn't work, there is no sense in trying it again...But if it does, it is should be given consideration should the person relapse.

If all of these drugs are tried, and still the patient is not responsive, removal of the spleen (splenectomy) is probably indicated. Some medical professionals use this as the first course of treatment, however, it is felt in other circles that non-invasive treatments should be tried prior to invasive treatments like surgery.

The final course of treatment available to people with Evans Syndrome is a bone marrow transplant. This is the last choice because of both pre and post-transplant complications which may occur. First, the person must undergo a scourge of drug therapies in order to kill the bone marrow and shut down the immune response. Next, new cells are introduced, sort of "resetting" the body's marrow-producing capabilities. Sometimes these cells can be gleaned from the patient's own marrow: Other times donor cells are used.

If, at any time, the body stops attacking the blood cells, this is referred to as "remission". There is no real cure for Evans Syndrome.

How do I know this? I am not a doctor or a nurse. I do not work in a lab, and I don't have a degree in biology. I was diagnosed with Evans Syndrome at the age of 44. I have been in remission for 5 years, following a 5-week round of Rituxan. I first started showing signs of a problem around the age of 2.

Sometimes I feel like there's a dark cloud following me around, waiting to once again unleash that "perfect storm". But for the must part, I am just grateful to be alive.

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