Evans Syndrome: A Family Affair

Contributed by Joe Camilleri

Introduction

In 2007 and again in 2010, I was diagnosed with Evans Syndrome - a rare autoimmune disorder in which the body produces antibodies that destroy the red blood cells, platelets and white blood cells.  It has no known cause and is not believed to be hereditary. However, my situation appears to be unique even for this relatively rare disease.

Background

I was born on the island of Malta and immigrated to the United States in the 60's with my family as a child.  My older brother, who was also born in Malta, was diagnosed with ITP as a baby.  The disease went away without any treatment.

I had an uncle in Malta, who passed away from an unknown blood disorder before I was born.  It is now speculated that the disease might have been ITP and/or hemolytic anemia.  His son, who eventually immigrated to Australia, was diagnosed with ITP several years ago.  The disease went into remission after splenectomy.  He passed away last year but I don't have details because I had only recently discovered that he was my cousin.

My sister, who was born in the United States, was diagnosed with ITP about 10 years ago.  She was treated with Prednisone and the disease went into remission where it has remained.

My Struggle

I was diagnosed with Evans Syndrome in 2007.  It was initially treated with Prednisone but its effects were very short-lived.  My hematologist recommended splenectomy but I refused since my spleen was healthy and functioning normally.  A very low platelet count helped my argument against the surgery. 

At that time, Rituxan was being used as a cancer treatment but not widely used for the treatment of other diseases.  My hematologist said it had to be a last resort but I convinced her to try it anyway.  The treatment appeared to work after several weeks.

The disease went into remission for six months, after which, my platelets dropped sharply.  Once again splenectomy was recommended and once again I refused.  Rituxan was tried again and, after several weeks, the disease again went into remission.

In September of 2010, I was once again diagnosed with Evans Syndrome.  This time the disease was a little harder to get under control and I received many blood transfusions.  I was given a dose of Cytoxan to stop the hemolysis and once again treated with Rituxan.  After several weeks, this miracle drug once again came to my rescue.

My Daughter's Battle

Immediately after I had recovered from my illness, my daughter started complaining about tingling in her legs and occasionally seeing spots.  She had a sinus infection and we thought that it was somehow related.

 Her physician recommended a CT scan in order to rule out a brain tumor.  The day after the CT scan, my daughter started vomiting.  We took her to the doctor again after this continued for several days.  We were told that it was simply the flu and that the results from her CT scan were normal.

The vomiting continued on a daily basis and many tests were done but each time we were told that everything was fine.  The nurses at the physician's office were clearly becoming annoyed with my many phone calls.  My daughter was referred to a surgeon (not really sure why) who simply said she did not need surgery but recommended another CT scan.  My daughter had not been able to hold down food for weeks and now she was asked to drink the Barium shake.  That was horrible!

With still  no answers and increasing desperation, we decided to take my daughter to Emergency because her finger tips appeared shriveled.  I thought that she might be dehydrating.  After a very long examination, the ER doctor said my daughter's kidneys were functioning at 16% and that she would be admitted for treatment.

The Real Nightmare Begins

 The sinus infection could not be treated until my daughter's kidneys had recovered to a safe level.  After a couple of weeks of treatment, her kidneys stabilized and antibiotics could be administered.  Immediately, my daughter started complaining about intense tingling in her legs and trouble moving them.  The antibiotics had triggered an autoimmune response.  After the diagnosis was repeatedly changed, it was finally considered to be ADEM - an immune mediated disease of the brain.  Left untreated, the paralysis which started in the legs, would work its way up the body until the respiratory system was affected resulting in death.

Treatment for ADEM was identical to that for Evans Syndrome - Prednisone and IVIG.  After her condition stabilized, my daughter was released to a rehabilitation hospital to try to regain the use of her legs.  She was told that she may always have a mobility problem.

My daughter went to physical therapy and returned to school in a wheelchair after missing much of her senior year of high school.  Her goal was to walk again when she graduated.  She achieved her goal and made plans to attend college but not before following in my medical footsteps.

Evans Syndrome Strikes Again

Everything seemed to be returning to normal when my daughter complained about feeling badly.  We assumed it was due to her impaired kidney function and took her to the hospital.  Tests showed that her hemoglobin had dropped sharply.  Since she was still technically a pediatric patient, her treatment was a little different than mine.  Her hematologist had her do plasma pheresis, then prescribed Immuran, Prednisone, IVIG, countless units of blood, and finally Rituxan. 

My daughter's hemoglobin was 3.1 at its lowest point.  It took about 8 months until her hemoglobin approached the normal range.  After it did, it was her platelets turn to crash.

Since she had turned now 18, we transferred my daughter's care over to my hematologist.  He started with Prednisone but, like me, she showed only a modest initial response then nothing.  She started a Rituxan treatment and ultimately responded as I did.

Fighting the Disease

Rituxan appeared to play a key role in combating Evans Syndrome for my daughter and I.  However, I believe that a good support system and faith are also keys to overcoming this disease.  To me, the psychological stress was far worse than the physical symptoms.

For anyone interested, I kept a diary of my second battle with Evans Syndrome.  You may read it or watch the video presentation at http://passionwind.com.   It was my intent to record my most intimate thoughts as I once again battled this terrible disease.  I was sure that God would once again answer my prayers.  What I experienced was beyond my wildest imagination.  My story is hard to believe but none of it is fabricated or exaggerated.

I pray that you may find a bit of comfort or inspiration in what I have written.  If you or a family member is experiencing Evans Syndrome, it is easy to feel overwhelmed and desperate.  However, never lose hope.  God answers prayer.  I am not sure I honestly believed that before I got sick.  I am quite convinced of it now.

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