Our son, Samuel, born in August 2005, was diagnosed with Langerhans cell histiocytosis (LCH) by doctors at UNC in June 2006. Samuel’s LCH story begins like so many others: doctors perplexed at rashes that don’t go away, an ear infection that isn’t really an ear infection, and mothers constantly returning to the pediatrician’s office saying, “My child just doesn’t feel well. Something's wrong!"
"Langerhans cell histiocytosis (LCH) is the most common of the histiocytic disorders and occurs when the body accumulates too many immature Langerhans cells, a subset of the larger family of cells known as histiocytes. Langerhans cells are a type of white blood cell that normally help the body fight infection. In LCH, too many Langerhans cells are produced and build up in certain parts of the body where they can form tumors or damage organs. The cause of this disease is unknown, although many possibilities have been explored, including viruses, exposure to toxins in the environment, family history and geography. Most data support the concept that LCH is a diversed disease characterized by a clonal growth of immature Langerhans cells that appear to have mutations of BRAF [gene] in about half the cases. Excess production of cytokines (immunoregulatory proteins secreted by cells) also appears to be important. LCH is not considered a true cancer and is not caused by a known infection. It is not contagious, nor is it believed to be inherited. LCH is believed to occur in 1:200,000 children, but any age group can be affected, from infancy through adulthood." (https://www.histio.org/page.aspx?pid=379)
Samuel had what is considered multi system or multi organ involvement: a skin rash, a skull lesion, his liver, and, as discovered through a splenetomy that came a year later, his spleen. (And though not a formal part of his diagnosis, whenever doctors looked into Samuel's ear, they were puzzled by what they saw; thinking that he had a common childhood earache, or thought he had water on his ear.
Shortly after Samuel's diagnosis, a central line was surgically inserted through his neck and ended in an artery over his heart. Then the complexity of treatment began. Doctors proceeded with chemotherapy as recommended by the current protocol. (Since Samuel's death, a new protocol has been issued.) The medicines, and all the medicines given to counteract the side effects of the other medicines, cannot be justly described in writing. Yet, that is the paradox in writing this particular blog post--trying to describe for others what it is like to live with a rare disease.
The Monday after Thanksgiving, in 2006, Samuel had surgery to replace his central line. An inner lining had ruptured, causing the whole tube to balloon when it was flushed or when it was used to give him medicine. Keep in mind, this was the same tube through which Samuel received his chemo. This new Broviac central line went through the area just below his armpit but ended up in an artery over his heart. During that same surgery a liver biopsy was taken and showed that the disease was “quiescent.” That was the doctor’s exact word--quiescent! (The first time in my life I remember ever hearing that word.) Maintenance chemo began immediately after the holidays. (Quiescent, by the way, is the same thing for cancer patients when doctors tell them that they are NED, no evidence of disease, or in remission.)
Samuel during his brief quiescent life.
The day after his splenectomy.
In January 2007, we spoke with a liver specialist because Samuel was going to need a liver transplant. In addition to LCH, Samuel had a second diagnosis that threatened his life—cholestasis. By May, the LCH had noticeably returned: rash, lethargy, and a CT revealed more skull lesions and “something” behind his ear. Samuel’s doctor laid out a methodical course of action: undergo a splenectomy, wait and see what that does, if no change, then a bone marrow transplant.While we waited to see if the splenectomy would raise Samuel’s platelets, a routinely scheduled bone marrow aspirate/biopsy revealed that he had scarring of the bone marrow, meaning Samuel’s body was slowly losing its ability to make blood. His bone marrow had become fibrotic. Plus, the pathology report on the spleen revealed LCH. On to bone marrow we went.
Samuel began undergoing the necessary tests for the bone marrow transplant. A 10-for-10 match was found (the donor did not live in the United States) and Samuel received fludarabine and Campath. The doctor kept us informed of the donor's progress. This is a side to transplant that people rarely consider, or realize how generous and kind a donor is being. The donor has to go through a thorough physical. If she/he fails, the process to find a new donor begins again. There are many hurdles to which we held our breath until we were told the status. In our case, the donor passed their physical and everything was looking good. Though the thought of living in an isolated hospital room for at least 100 days was daunting, we were planning for what we needed to do.
We had to think about the possibility of one of us having to quit our job; the 12-week family/medical leave act was quickly coming to a close. Samuel was on my insurance, so the answer was becoming obvious--obvious but not easy. A bone marrow transplant also meant he would get his donor's blood type, no longer having the blood type he was born with genetically. This may not sound like a big deal, but it was an emotional factor for me. Furthermore, there was the rejection drugs Samuel would likely need to take for the better portion of his life.
Then, one morning the doctor entered the room with unexpected news. Samuel’s bilirubin rose to a level that disqualified him for a bone marrow transplant. We worked diligently to try and bring his bilirubin down, which would re-qualify him. Samuel continued to get his blood and liver levels checked, getting transfusions as needed, and preparing for the transplant should his bilirubin hit the magical number of two, or lower. It never came.
Samuel passed away around 1:00 a.m. on 17 September 2007.
I titled this blog post, "It's Rare Until it Happens to You," It is hard to explain the feeling of being singled out by a rare disease. I remember Samuel's doctor making a general comment about rare disease and I replied, tongue and cheek, "it's not rare to us." She took my comment literally, and replied, "Oh no, it is rare," not catching my sarcasm.
More than one of Samuel's team of doctors commented about how challenging it was to know how he would respond to treatment because there simply wasn't enough data. It was harder for them to have answers to our questions. "He's writing his own book," one of his pediatric oncologists would say. Other LCH moms have said doctors told them the same thing. LCH, like all rare diseases, has no cure. The cause of LCH also remains a mystery.
LCH fits the statistic that 75% of all rare diseases affect children. LCH, while is found in adults, is primarily a childhood disease. The day we received Samuel's diagnosis, we found a statistic that read only 20% of children under age 2 at diagnosis survive. Not an easy stat to digest. Samuel survived to his 2nd birthday, and the older he got while being treated for disease, the more hope we had.
When diagnosis of a rare disease is made, right away, it implies that you will not get the same amount of help that patients with more common illnesses receive. Right away, I felt a sense of loneliness. Right away, a normal life was gone. . . forever.
If it happens to you, it's not rare. Plain and simple. Statistically, and for the sake of labels and justifying government funding, a disease is rare, or considered an orphan disease because only 1 in 200,000 people are affected. Interestingly, there are 350 million people in the world affected by rare diseases. Of that, 30 million are Americans--that's more than the number of cancer patients worldwide. Perhaps if we knew more about rare diseases, it would be a gateway to finding cures for more common diseases, like cancer.LCH, and the other histiocytic disorders, are fortunate to have an advocacy group, Histiocytosis Association, (www.histio.org) that raises money for medical research, which in the past year, discovered the link to the BRAF gene. However, over 50% of rare diseases have no advocacy group or foundation.
Things you can do to help: the hardest, perhaps, is donating funds; the easiest, wear your jeans to bring awareness to the genes project on February 29, World Rare Disease Day. There is one other thing you can do--empathize. It will be hard for some and easy for others. If you can empathize then you too will feel that when rare disease happens to you, it isn't rare.
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