After thiry years - a name

For thirty years, we have known that Kim had a blood disorder, but we never had a name for it. After having both Kim's and Lori's enlarged spleens removed, we were no closer to a resolution. Lori had no other symptoms of a blood disorder, but Kim was told that the removal of her spleen would solve her anemia problem - that the enlarged spleen was the problem. It was not. It was a symptom of her problem. She kept requiring transfusions periodically for the next 20+ years. Eventually they stopped testing her blood and taking bone marrow, saying "Even if we knew what it was, it wouldn't change the treatment. We would just transfuse her when she got low."

With Lori's Drew having recent troubles with low platelets, low neutrophils, low hemaglobin - resulting in the removal of his spleen (which again did not solve the problem), he and Lori entered numerous rounds of testing which resulted in a name for the disorder. ALPS Autoimmune Lymphoproliferative Syndrome. After thirty years, a name! According to the National Institute of Health:

Autoimmune Lymphoproliferative Syndrome (ALPS) is an inherited disorder of the immune system that affects both children and adults. In ALPS, unusually high numbers of white blood cells called lymphocytes accumulate in the lymph nodes, liver, and spleen, which can lead to enlargement of these organs. ALPS can cause numerous autoimmune problems such as anemia (low count of red blood cells), thrombocytopenia (low count of platelets), and neutropenia (low count of neutrophils, the most common type of white blood cell in humans).

NIH started studying ALPS in 1990. Our battles with ALPS began ten years earlier. By 2007, NIH had evaluated and diagnosed only 250 patients. They have money to fund the research and have invited us to be part of it.

We know ALPS is genetic, and that it has a 50% chance of being passed on to children. Either Steve or I have it, and one of our parents had/have it, and likely some of our siblings have it. It doesn't always manifest itself - you can be a carrier without having the symptoms. Neither Steve or I are aware of any blood disorder. Steve has been told he has an enlarged spleen. I bruise easily. Which one of us is it? There is a "pool" going on to be the one who correctly guesses which ones of us have it. My theory is "Me, Lori, Kim and Greg" - but I have no idea which grandparents carried it. We all did the cheek swabs a few weeks ago, so results should be coming soon.

So were they right? "Even if we knew what it was, it wouldn't change the treatment. We would just transfuse Kim when she got low." Evidently not. Whoever has it is invited back to Bethesda (at taxpayer expense) for more tests and training. Evidently other problems emerge later in life - such as lymphoma. There are warning signs you should know, and a list of best treatment options for the neutropenia.

A friend of mine said that her grandfather always blessed them that they would have "interesting lives". Sometimes being "interesting" is not all its cracked up to be.