Wednesday, March 28, 2012

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 8th 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.

Sunday, March 25, 2012

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.

Saturday, March 3, 2012

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 ( 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

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.

Friday, March 2, 2012

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
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. ( 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.