Histio Hike - Shenandoah 2012 - Home

Histio Hike - Shenandoah 2012 - Home

Jim and I signed up as virtual hikers for the Histio Hike, taking place in the Shenandoah Valley on April 28. Since we couldn't be there in person, it was nice to see that the histio.org website gives you the option to participate virtually. It was only $30.00 and we get the T-shirt! The goal for the hike is to raise $100,000. They have raised just shy of $40,000. Please consider joining Jim and I as virtual hikers. The Histiocytosis Association funds the foremost research into histiocytic disorders.

Click on the link. Sign in and sign up. It's easy and it's free!

Samuel inspires a Coping Cart

UNC Children's Hospital began a Pediatric Palliative Care program as of January 1, 2012. Last year, Jim and I were invited to get involved in the planning process as parents whose child was treated at UNC. Two thousand dollars, money raised by the Bike Ride for Sam, was granted to the new Pediatric Palliative Care program. We learned yesterday that Samuel inspired a coping cart, designed to support and used by patients and parents as part of the palliative care concept. Needless to say we were honored by this. To quote an excerpt from the email: "Because this is all about Samuel, we would like to go ahead with the “Coping Cart” for patients and families that the committee has been anxious to develop.

The “Cart” is a mobile cart that will be available to any staff on any of the units 24/7. Child Life, Pastoral Care and Nursing have purchased a supply of workbooks, exercises and Legacy materials that will be used for direct care to patients and families, including extended family members. All the materials are designed to help individuals maximize their strengths when dealing with difficult palliative situations. And, of course the Legacy materials are meant to provide some tangible remembrance for the family to keep always. It will now be possible for Child Life to develop CDs with parents here in the hospital. There has even been a recent need in the Women’s Hospital for a mother to leave her children a CD. The impact can be significant."


Recognizing this may be an odd time, I need to make a difficult announcement. After 5 consecutive years, this year a Bike Ride for Sam is not being planned. Planning the bike ride has been very difficult for me. In order to coordinate many of the logistics and arrange sponsors, I have to distance myself from what is actually happening--that we are doing this because my little boy is deceased. It has been a stressful experience instead of an experience that I can use for healing. This explanation may not be understandable and that's okay. I'm not sure I understand it. I just know it is difficult and each year I have faced the bike ride with more dread than excitement. This may surprise some of you.

I hope that next year, 2013, I'll be able to re-initiate the bike ride and we will have the 6th Bike Ride for Sam. In the meantime, my deepest and sincerest gratitude to all those who have played a vital role in the first five years. The support and generosity of so many provided a lot of comfort to this mother's grieving heart.

Samuel's Marble Road

An organization called Marble Road (www.marbleroad.org) sponsored the Rare Storybook Project contest, inviting those affected with rare disease to submit a story. I submitted the story, "Sam and the Lost Wobby," featuring Samuel and Horton the Great Dane, written by Samuel, according to his godmother, and real author, Brenda Nightingale, and illustrated by mEG Arrowood. As part of the contest, participants were asked to make a video, preferably, I think, to accompany the story. However, in this case, the two main characters of the story are deceased, making it difficult, to say the least, to make a video to go along with the storybook.

Marble Road's objective is to bring attention, awareness, and find a way to participate in the global observance of World Rare Disease Day, the last day of February. (This year it occurs on a rare day, Feb. 29). The attached video is an excerpt from one of our favorites of Samuel. It was taken in 2007. I drafted a verse/poem about the effects of rare disease, which serves as the narration. In the background Samuel's laughter reminds us of both the preciousness and the precariousness of life. Not unlike living with grief when memories make one both happy and sad in the same moment.

Watching the video, it's hard to imagine that Samuel's life ended a few months later. Although he's hooked up to an I.V., which isn't really noticeable in the video, he is obviously feeling well.  That's my brother Mark in the video, while Jim (Samuel's Dad) is filming.

The video ended up doing something for me personally I didn't realize until I watched on YouTube for the first time. I realized how much of my perspective is expressed; forever wondering where the hell this disease came from. How did it reach Samuel? How is it a disease like Langerhans Cell Histiocytosis (LCH) can go away on its own for some and cause the death of others? And so many other questions.

At the same time the video relates Samuel's story in a very brief manner, and in fairly chronological order. Diagnosis, trials & treatments, multiple tests, a "quiescent" diagnosis, the stoppage of chemo because his body was literally corroding, the splenectomy, the halting of the bone marrow transplant, and his death.

The video was filmed at UNC Children's Hospital in room 5C24. It wasn't a very long stay; just a few days. That end of the hall was usually for cardiac patients and those children with cystic fibrosis. However, there were no rooms on the hem/onc end of the floor, where Samuel had already spent much of his life.

Help spread the word. Help spread awareness about rare disease. In doing so, it will contribute to more funding, whether public or private, for research into the causes and cures.

Valentine's Day 2007

February 14, 2007 will go down in history as my best Valentine's Day ever. We had a clinic appointment at UNC that morning with Samuel. We stopped at a drug store in Sanford on the way. We bought a big box of chocolate and several small boxes: the big one was for the docs to share, but the small ones were for all the nurses. With the bag of heart-shaped boxes in hand, we strolled off the elevator and, as usual, Samuel calls, "Nindy." Cindy is a nurse's assistant and is the first person patients see. Cindy loved Samuel (still does) and Samuel loved Cindy (I'm sure he still does). I handed Samuel a box of candy and he gave it to Cindy. We did this with each nurse that was on duty in the clinic that day. He was pretty sweet as usual. I found it interesting that at no time did he refuse to hand the candy to anyone, or try to keep it for himself.

It's Rare Until it Happens to You

“He looks pale to me, does he look pale to you,” the doctor said to me upon entering the exam room at Samuel’s 9-month well-baby visit. Before saying “good morning” or “how are you,” the doctor held a look of concern on his face. Our rare disease story begins.

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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Welcome to Sam-O-Gram

What is a Sam-O-Gram? When my son, Samuel, was diagnosed with a rare blood disease called Langerhans cell histiocytosis (LCH), we (Samuel, my husband and I) spent much time in the hospital. What started out as days on end, ended up being months on end. In order to communicate regularly with friends and loved ones, Samuel's Godmother generously sent daily updates on our behalf. She would call each night to find out the latest then send out an email to those who were concerned about Samuel's condition. She called it the "Sam-O-Gram."

Samuel passed away in September 2007. As a bereaved parent I have had to find daily coping methods. One standard is that my husband, Jim, and I try to have lunch together each day as long as our schedules permit. I'm pleased to say that this occurs most everyday. Another coping method is to be active in raising awareness and funds for research into LCH and the other histiocytosis disorders. (There are several of these rare diseases.) I have done some journaling, which is also a coping method, and like so many bereaved parents who child(ren) have passed away from illness, wish to write a book. A book would immortalize Samuel's life, filled with the small victories in a short life complicated by a life-threatening and life-altering disease.

This blog is another coping method in that a Sam-O-Gram, which once told people about Samuel, will now be the messages I wanted to share with Samuel; things I wanted to teach him; philosophy and theologies about life and God that I would have passed along to him.

There are many ways writing is used in helping the bereaved: writing letters to your loved one who has passed away; journaling, as I've already mentioned; publishing a book about the life of your loved one; using PowerPoint to create a slide show and other ways of producing video for YouTube.

One of the organization for which I advocate is the Children's Rare Disease Network. They have a blog called R.A.R.E. -- Rare Advocacy, Rare Education. On January 30, they will sponsor a blog hop and I wanted to participate so now seemed like the time to create a blog. I've wanted to do so for some time.

So...welcome to the Sam-O-Gram.