On February 23, 2009 we took our 2 1/2 year old daughter, Abigail, to the doctor for what we thought was dehydration. She vomited on Friday after supper, but ran around and played just fine. Saturday she vomited again, but again seemed okay after and had no fever. Sunday she was very tired and pale and listless. We made sure she was drinking lots of fluids and checked for wet diapers just as you are told to do as a parent. Monday morning we took her to the doctor. Our pediatrician sent us to Children’s hospital in Minneapolis for fluids and other tests to see what was going on with her and why she was so pale and listless. After a few hours in the ER and some testing done we were told we had a very sick little girl, but they were not sure what was wrong. Her body was not producing blood cells or if it was they were being destroyed immediately. As she lay on the bed in the ER in and out of sleep, she kept asking for milk and juice and Daddy and then said “I want you Mama”. If I had only known that was the last words she would speak I would have curled up with her and never let her go. We had no idea what lay ahead of us.
Abigail was put in the Pediatric Intensive Care Unit and was intubated and started receiving blood and platelets. It was also discovered that she had a very large blood clot in one of her major arteries. This, combined with her inability to clot blood was hard for the doctors to treat. On Tuesday the 24th they did a bone marrow biopsy and discovered she had a very rare and dangerous immune disorder called HLH (hemophagocytic lymphohistiocytosis), where your histiocytes (blood cells) go crazy and can attack your blood, skin, liver, central nervous system, etc
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. She was to begin an eight week treatment protocol with steroids, immunosuppressants and chemotherapy. Once she was done with that she would have to have a bone marrow transplant to be cured. The chemo seemed to be working, but on Wednesday the 25th after just 24 hours of knowing what she had her heart stopped beating. They tried for 25 minutes to get her back, but her little body was too tired to fight anymore.
We have learned a lot about HLH since then and it is an awful, awful disease that reportedly affects 1.2 per million, although research is starting to indicate this is an often misdiagnosed disease with a much higher prevelence. HLH affects everyone differently, which is why it is difficult to diagnose. Abby’s doctors in Minneapolis have never seen a case go as quickly as hers did. They still do not know what virus triggered the HLH in her body to start. We have since had the kids (Matthew (15) and Allison (13)) and ourselves tested as this is usually genetic. Although we did not test positive for one of the genetic mutations that causes HLH, there is not enough research out there yet to have identified all of the mutations that cause this. We hope in the future all of the genetic mutations are found so they can be treated correctly, doctors and nurses become more aware of the symptoms of HLH so it can be treated much faster and this ‘rare’ disease becomes supported by government funding.