With All My Heart

Contributed by Joshua Rice

Hello all. My name is Joshua. I’m a 34 yr old that has been battling Evans Syndrome.

My story begins back in 2005. I was working as a millwright in a foundry in Birmingham, Alabama, when I came down with my “problem”. It started like a stomach virus, so naturally I stayed out of work for a couple of days to rehydrate. When I didn’t get better, I decided to go to the Emergency Room for fluids.

When the receptionist called me back for my insurance info, she asked me if my color was usually yellow. I turned yellow as a school bus right in front of her, so they rushed me back and immediately did a CBC, and told me they were keeping me. Over half my blood was gone, and they couldn’t find out why. My wife and I were horrified.

Later, I was moved to a private room and was told I might have bird flu. I was quarantined, and all they would do for me was give me Tylenol for the major temp I was running. While all this chaos was going on, my whole family was called in, and were given no answers.

I ended up staying the night before I was transported to University of Alabama Hospital in Birmingham. It was a Sunday. I don’t remember much but the ambulance ride that day.

Early Monday morning I woke up short of breath. The color of my skin was pale-grey. My blood had hemolyzed to the point I had very little left. My hematocrit (blood volume) was 5. I remember the nurses getting a little blood but before they made it to the lab it would coagulate. They pumped me full of steroids and gave me what they thought was the best match in blood. Needless to say it’s a miracle I’m here today to write this biography. During this time, I felt the Grace of God surrounding me: It was a tangible presence. The next morning, the nurse came in and told me it was good to see me still here. After 5 days of working to get me stable, I was sent home with a diagnosis of hemolytic anemia, not knowing that my life would be forever changed. What I didn’t realize was that hemolytic anemia is not exactly a diagnosis: It is a symptom of a deeper problem.

After a couple of weeks of taking mega doses of steroids, my counts stabilized and became normal. I went back to work. After a month, I was given the option to work in Ohio or quit, so I just quit. My boss at the time was worried I would sue him, I guess.

It wasn’t long after that I found another job here in our town, and for a year I was going strong—all was good. Then I started waking up with nosebleeds. I thought maybe it was just sinusitis. I stayed fatigued and worn out all the time.

Finally, I decided maybe I should see a doctor. He did a CBC that showed my counts were dropping again. Back on the steroids I went, and it helped…But my platelets wouldn’t come up past 70. I still had no definite diagnosis, so I started looking for another doctor.

My new doctor did a bone marrow biopsy but still gave me no diagnosis. I felt like I was just floating along waiting to die for four more years, until 2009, when the steroids completely quit working.

I found another doctor, and had to go through the process all over again. That meant another bone marrow biopsy. This guy told me I had myelofibrosis, a disorder with a prognosis of about 5 years. All I could think of was, “At least I know what I’m facing now.”

In 2009, I slept in the hospital more than I slept in my own bed, and all my doctor would do was pump me full of steroids and transfuse me. Nothing was working, so my family doctor advised me to go to the Mayo Clinic in Minnesota to see Dr. Ayalew Tefferi. I agreed, so my doctor gave me three pints of blood, and told me “Good luck.” To be honest, I didn’t expect to come back.

My wife and I arrived in Rochester, Minnesota, in February. It was COLD! My appointment was at 10am, and we were both anxious. We walked into the clinic and were amazed: The first thing that caught my eye was a grand piano surrounded by women in wheelchairs and wearing do-rags on there heads. They were chemo patients. The pianist started playing a familiar song—Amazing Grace. As I watched the faces of those ladies beam with Glory, tears flowed down my cheeks and hope arose in my spirit. I knew all would be OK. After my wife and I collected ourselves, we went on to my appointment.

We walked into the doctor’s office, and he asked my name and what was going on with me. I described my medical history, and he listened with a concerned look on his face. He told me to get some blood tests and to see him in two days.

The morning after a day of testing, we arrived in Dr. Tefferi’s office hoping to hear any kind of news. He sat me down and told me it wasn’t myelofibrosis at all. I had Evans Syndrome, or I was in the beginning stages of aplastic anemia. We were glad that I would live longer, but we weren’t out of the woods yet.

After our conversation with the doctor, we went out of that office happier than we had been in a long time. We walked across the street to have a smoke. I looked into the heavens and asked God, “What are you doing?” While walking back across the street a green ball of light the size of a volleyball began to dance at my feet, and I knew all would be OK.

That year I was laid off from work and had to draw unemployment.  During that time, my counts dropped once again, and I was infused with a bag of platelets. From that bag of platelets I contracted e coli. It found its way to my back and destroyed half of my L5-S1, and obliterated a disk. I was paralyzed for two months. I am currently disabled.

The point of my story is not to scare or depress anyone. I want to encourage you: Never give up. Never loose hope. There is a light at the end of your tunnel. I had every reason to give up and call it quits, but I didn’t. Many times I wanted to give up and I would…for a while. But then I would find the faith to get back up and fight, and Grace just never, never gave up.

I love you all, and pray that you find comfort and peace in knowing you are not alone.

With all my heart,

Joshua

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

It's My Story...

Contributed by Laura Thurman Shaffer

As I was walking through the mall with my mom and daughter, I was thinking to myself, ‘How lucky I was to be buying baby clothes again!’

I had wanted this baby for years, and I was finally showing!! I also just got over a scare: I had started bleeding, and they weren’t sure why. They did do an ultrasound and found a little tear in my uterus, so I was put on bed rest for a few weeks.

Earlier that day, I had cut my finger while working in the kitchen. I looked down at the cut, hours later, thinking it was funny that it was still bleeding. It bled so much when I first cut it that I ended up with blood all over the floor, as well as covering at least a dozen paper towels! My concern led me to stop in at my husband’s station to get it looked at, and I got laughed at!

“Laura, its just a little scratch!” Nick said. He wouldn’t have thought so if he saw the mounds of paper towels and blood on my kitchen floor! Oh, well.

Back at my mom’s house a few hours later, I had to pee again—another fun perk of pregnancy! As I got up, there it was again…peach-tea urine. I called my mom in to see if I was crazy, and she thought that I needed to call my OB doctor.

“Laura, that’s weird, plus you do not look right…Are you sure your going to be OK while I am in Florida?” she asked.

“Moooooommmmmm…I’ll be just fine!” I said. To be safe, I called my OB and got an early-morning appointment.

That next day, I went to my doctor appointment, and got to hear my little guy’s heartbeat! The doctor came in, took one look at me, pushed on my stomach (which was always hurting me), and said that I needed to get to the emergency room right away.

I called my husband, but I was not panicked. I told him to stay at work; that it was probably just so I could get checked out, and that I would be home later.

I sat there alone for hours on a hard bed in the triage unit of the OB floor. They came in for blood every hour. Finally, after 5 hours of waiting, a nurse came in and said a doctor would be in shortly to see me.

That nurse did not tell me that a team of doctors was coming, but that’s what I got. I was shocked to see so many white coats standing beside the bed. They asked me all kinds of questions. Finally, one asked, “Mrs. Shaffer, have you ever had problems with your blood?” I shook my head, indicating that I had absolutely no history of blood-related problems, and then they told me they were admitting me to the hospital.

The next morning was a blur of specialists, and a statement that I will NEVER forget. “In Order To Save You, We May Have To Take Your Baby.” I was barely hitting 19 weeks: The baby would never survive delivery.

I thought, ‘After all that I had been through to get him, you want to take him away from me?? NO WAY.’

That day, to my surprise, my skin turned very yellow. Jaundice! They told me that billirubin would cross the placenta and cause problems. All day long, specialists provided me with more bad news, but not one could tell me what was wrong with me. It wasn’t HELLP (related to the very serious pregnancy complication of pre-eclampsia); although similar, some of the key symptoms were not there.

Finally, after a week in the hospital, a hematologist was able to stabilize my blood, and I went home on bed rest and monitoring. I visited my hematologists and my OB every few days, and I made it to 38 weeks…despite all the speculations of a premature birth.

I gave birth via a caesarean, which was a terrible experience for my OB! Then my hematologist diagnosed me with me Evan’s Syndrome. He seriously thought that maybe this was all pregnancy-related but my blood did not recover after birth. In fact, ITP and hemolytic anemia were getting worse. The steroids were no longer helping; blood transfusions were not helping; Iron Transfusions were not helping. Rituxan was my next step, however, the pain in my stomach was severe and the rapid growth of my spleen could no longer be ignored.

On June 3rd, 8 months after giving birth, my overly enlarged spleen was removed. I almost did not make it through the surgery. I had several blood transfusions and, if not for the patience of my surgeon and anesthesiologist, I would not be writing this today. Not only did the surgeon remove from my body a spleen the size of a newborn: He also took out an accessory spleen!

One week and a drain tube later, I was released to go home. I still felt terrible and the pain on the opposite side of my stomach got worse. One very early morning when I got up to check on the baby, I nearly passed out.

I called my husband and he took me to the hospital. They did a CT scan, which not only showed that the drain tube crossed over my stomach, but that I had several more spleens. To this day, I still have pain where my spleens are, but they are not being monitored and we do not know if they are working.

A few weeks after surgery, I was told that my Evans Syndrome was in remission, and that maybe I never had it; They just couldn’t be sure.

Today is March 28, 2012. I still start to turn yellow. I get very pale, very tired, and my joints hurt. I stutter, and I have terrible headaches. My hands, arms, feet, and legs are always numb. I am not allowed to drive because its possible that I may be having mini seizures, and I have momentary memory loss. I feel swollen and bloated. But my blood is still in remission.

In November, I was hospitalized for a critically high level of ammonia in my blood. Still no one can tell me what’s wrong with me. I need someone to tell me. I want someone to tell me. I despair.

My life has completely changed: I feel weak and not in charge of myself anymore. I have no freedom, no career path, no money, and no insurance. Things have gone downhill so quickly. When I go to my hematologist I am made to feel like a hypochondriac, as if I can NOT be validated because my numbers are good. Luckily, my family doctor is listening: on April 11^th I will see a rheumatologist. My family doc suspects that lupus may be creeping through my body. FINALLY…an answer. I am awaiting an MRI—because I am an American without insurance, it’s on hold.

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

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.

Roller Coaster

Contributed by Michael Borg

Our son, David, was discovered to have a low platelet count in April 2010, at which time he was hospitalized in nearby Brunswick, Georgia. He was 14 years old. He received a treatment of Intravenous Immunoglobulin (IVIg), and his platelets rebounded. At the time, they diagnosed David with idiopathic thrombocytopenic purpura (ITP). 

Several weeks prior to his hospitalization, David began experiencing frequent nose bleeds, but we didn't notice any increased bruising. As it turns out, his primary indicator of low platelets is bleeding from the nose. Other people get a lot of bruising, too, but David just doesn't bruise much. 

Due to a work relocation in August that same year, we moved to Purcellville, Virginia, a northwestern suburb of Washington, DC. After our move, David was hospitalized several times, usually with very low platelets. The lowest platelet count we recollect him having was around 1,000 (a normal platelet count is 100,000 or higher): He is usually between the 30,000 and 50,000 range. 

When we moved to Virginia, David began seeing a hematologist at Children's National Medical Center's Children's Cancer and Blood Disease Center of Northern Virginia. This new hematologist positively diagnosed David with Evans Syndrome in February 2011. In March that same year, we got a second opinion from Dr. Bussel, at Cornell Medical Center in New York City. Dr. Bussel suggested removing David's spleen, however, we opted not to do that.
On July 3, 2011, David had a severe nose bleed that lasted more than six hours. We were visiting family in New Jersey at the time, so we took him to Robert Wood Johnson Hospital. The hematologist there confirmed David's Evans Syndrome diagnosis. He received a dose of IVIG, and his platelets rebounded.

David responded well to IVIg treatment, but had another incident in October 2011. This time, his platelets didn't go up to an acceptable level, and both leukocytes (white blood cells) and platelets were being affected. He was treated with CellCept, responding well, but developed severe back pain, so he was taken off this drug in December 2011.

After CellCept, David's platelets were in the 50,000-60,000 range without any medication, and his white counts were elevated, as well. However, now in March 2012 we see that his platelets are again dropping. 

David experiences extreme fatigue, pain, and weakness in his extremities to the point at which he is practically immobile. He has missed a lot of school this year…too much. He gets frequent headaches, and recently has been complaining of stomach pain. The doctors really don't have a lot of information to inform or comfort us. 

The Evans Syndrome Community Network (ESCN) Facebook page has been a blessing to us. Sharing the experiences and information has provided more intelligence for us to maneuver and manage through this. The doctors never told us to see a rheumatologist or an immunologist: It was ESCN's Founder, Constance McNamara Romanowski, who did. While they provided no answers to David's ailments, at least we were able to check them off the list, and got a battery of tests done for the record.

Plotting a course through Evans Syndrome has been a very frustrating ordeal. As a parent with a sick child, you feel helpless when your son says, "Just find out what's wrong with me." The Evans Syndrome Community Network Facebook page has been a comfort during this difficult trial. We appreciate all the people--sufferers, families, and parents--who are sharing in this trial. If we all keep sharing information, we will be able to deal with this in a more intelligent and prepared manner. Thanks to all of you for not shutting down, but opening up and sharing, so that we can inform each other and our healthcare providers ~ who may one day find the key that unlocks this mystery.

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

Rare Disease Day 2012

by C. McNamara Romanowski

The Evans Syndrome Community Network, headquarted in Des Moines, Iowa, joined the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 29, focusing attention on the needs of patients and families affected by rare diseases.

“This [was] a global observance,” said Peter L. Saltonstall, president and CEO of NORD. Individuals and organizations around the world use the day each year to share with others their experiences and how rare diseases affect their lives.

The challenges of living with a rare disease include:

• Difficulty getting a timely, accurate diagnosis

• Too little research

• Too few treatments

• Reimbursement or other issues affecting access to treatments

• A sense of isolation

• Difficulty finding medical experts

In the United States, any disease affecting fewer than 200,000 Americans is considered to be rare. According to the National Institutes of Health (NIH), there are nearly 7,000 such diseases affecting nearly 30 million Americans.

Studies have shown that it often takes five years or longer to get an accurate diagnosis of a rare disease. In addition, only about 200 of the diseases classified as rare have approved treatments.

Rare Disease Day started in Europe in 2008. It was launched by EURORDIS (Rare Diseases Europe). Last year, it was observed in more than 60 countries, with a national sponsor in each country. NORD is the sponsor in the U.S.

More than 500 patient organizations, government entities, research institutions, and companies developing treatments have signed up as Rare Disease Day Partners on the national website hosted by NORD (www.rarediseaseday.us). The Evans Syndrome Community Network is one of those partners.

The Evans Syndrome Community Network on Facebook is open to anyone diagnosed with Evans Syndrome (ES), as well as those whose lives have been touched by a person with ES. The organization hopes to provide a way of networking with other ES people, as well as good information, and mental and emotional support. Their motto is: "You can make a difference, standing shoulder to shoulder."

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)

Each year, a global planning team selects a theme for Rare Disease Day. The theme for 2012 was “Rare but strong together.”

Rare Disease Day activities in the U.S. included a “Handprints Across America” campaign to create a gallery of photos on the Rare Disease Day website; educational materials for classroom teachers; and a nationwide blitz of patient photos, stories, and videos to increase awareness of specific rare diseases and the challenges of living with a rare disease.

Several special events took place, including a scientific symposium at the National Institutes of Health (NIH) and a Rare Disease Patient Advocacy Day at the Food and Drug Administration (FDA).

“Since many of these diseases are genetic, more than half of the people who have rare diseases are children” Saltonstall said. “The problems encountered by families are enormous. It’s important for these families to know they are not alone.”

NORD was established in 1983. It provides advocacy, education, research and patient services on behalf of rare disease patients, families, and patient organizations.

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.