How the Histiocytosis Association of America supports JXG research by Jeff Toughill

It is so wonderful to see how this special group has come together in support of JXG patients. A BIG thank you to Maria Jose Diaz Frias for making this happen. As a parent of a child with Langerhans cell histiocytosis and the Founder and President of the Histiocytosis Association I am well aware of how hard this is to accomplish. In my case, it was the support of friends and family that helped give birth to our Association. I can see that Maria has had the same experience. I would like to take this opportunity to tell you about the Histiocytosis Association and what we are doing to find better treatments and a cure for JXG. As you may know, the histiocytoses are a group of disorders that are related to each other. Langerhans cell histiocytosis (LCH) is the most prevalent and the other forms; JXG, hemophagocytic lymphohistiocytosis (HLH), rosai dorfman (RD) and Erdheim Chester (ECD) are considered to be even rarer. Even though they may have different names physicians and scientists have found that there is similarity in the way these diseases affect patients and the problem cells involved. The Histiocytosis Association (www.histio.org) is funding scientific work that we anticipate will lead to cures for all these related diseases. Even though a scientist is studying cells in Langerhans cell histiocytosis what he or she learns can possibly be related to JXG, ECD, HLH or RD.
Like the National Institutes of Health the Association’s Board of Trustees understands that “revolutionary ideas often come from unexpected directions”. Once a year, the Association sends out an announcement to physicians and scientists around the world asking them to submit their best work to the Association. We list a variety of interests in the announcement and specifically include JXG. After all the applications are received they are reviewed and scored by the Histiocyte Society’s Scientific Committee. The grants then receive a second review and scoring by the scientific members of the Association’s Board of Trustees. This competitive process ensures that we are funding the best research with the best possibility of increasing knowledge.
In addition to funding grant awards we have been very successful in ensuring that the Histiocyte Society includes all of the rarer histiocytic disorders, including JXG in their studies. I have been very active when communicating with the Society that even though some of these diseases are even rarer we must find a cure for ALL of them. The Histiocyte Society is an international group of over 200 physicians and scientists from around the world who are studying these disorders. We have been working with the Histiocyte Society to establish a Rarer Histiocytic Disorders Registry that will collect data on patients with JXG, RD, ECD and, adult LCH. The Association has funded the start-up costs however the it will take several months for the registry to become active. We still need to work out how to cover the on-going costs and comply with the legal requirements of other countries. I want to ensure all JXG patients that the Association is working very hard to find better treatments and a cure for JXG. This site will be an important vehicle for the Association to share information with all of you. If you haven’t already, please feel free to join the Association so that we can keep you informed about our activities. It’s also important to raise funds for research. As a rare disease it is only through the work of families and friends that research can be funded.
Thank you for this opportunity to tell you how the Association is working for you.

Jeffrey M. Toughill
President of the Histiocytosis Association of America
JeffreyToughill@histio.org

JXG CHAMPS (30 week old)

Becoming aware of other family’s JXG stories has been one of the most crucial components in accepting my baby’s condition. When we just received the news of Santiago’s diagnosis and we started to investigate what the doctors meant by a “rare disease”, a horrible feeling of isolation and fear came upon us. I remember reading medical papers and explaining what was happening to us to other people and wishing there was another human being that I could talk to and had gone through the same. I am not exaggerating when I tell you that it is with tears of joy that I announce today the launch of our “JXG Champs” section. I know from experience that it is not an easy step for any of the parents to open up to the world and post their child’s journey with JXG. We give a lot of thought to the risks and rewards involved in the process and it is not a decision that can be made lightly. We all want to support each other and help other families struggling with this disease, but we must protect our kid’s privacy and we know we are running the risk of our intentions being misinterpreted or having people feel sorry for us. Yet at the end, we bet on the bright side of life. It took a lot of effort and courage from many people to be where we are today and I do not take it for granted. My hat is off to each of the families that share the story of their little hero. Their love and relentless fight cause nothing but admiration, respect and optimism in my heart. I hope it does the same for you!

*My deepest gratitude to Carolina Soza who created this beautiful logo for our group.

TAKING ACTION (23 week old)

For me, one of the most challenging aspects of Cutaneous JXG is dealing with the feeling of powerlessness over this condition. Once the biopsy results come back and the doctor explains what it is and says: “we are going to keep a close eye on it” (meaning a follow up every 3 month with him and another one with the ophthalmologist), we think: “that’s it?. It can’t be”. So, most of us get home and launch into the internet to conduct our own research. After we absorb tons of info to the point that our brains become like mushrooms and we confirm that the doctor was right, we are still not satisfied. Now we look for a 2nd, a 3rd and even a 4th opinion! Besides some differences in tests (some doctors order more than others), they all tell us the same: “Wait. Be patient. It will go away in a few years” and this time our inner voice whispers “easier to say than to do”. After I posted a few articles on this blog, many of my dearest friends asked how they could help? What they could do?. Besides telling them to donate money in honor of Santiago to the Histiocytosis Association of America or the Histio Heroes Research Fund I did not know what else to offer. At that point that was the only thing I did but I knew it should be more. The last couple of weeks I searched other organizations and I discovered many other ways to fight back. I was ecstatic to see that so many people around the country are working very hard to find a cure and that I did not need to re-invent the wheel. I just needed to create a place where all these wonderful ideas could be easily accessed and this is how the “Take Action” section of the blog was born. As indicated there, some of these avenues do not take more than two minutes and many of them are free. I have tried all of them and even though some have not paid back yet, they made me feel empowered and not alone. I understand that all these efforts will not have a direct impact on my baby’s condition but they will help someone else's child in the future and that is a great sensation to have. In those days when it is obvious that impatience is winning the battle, my husband says: “Remember babe, a watched pot never boils” and a smile is drawn in my face immediately. Hopefully, by taking part in some of these efforts, we will not feel like the JXG pot takes forever to bubble.

MY WISH LIST (18 to 22 week old)

This picture was taken the day that Santiago rolled over for the first time. My husband and I were waiting for this to happen for a while, so we celebrated it if Santi won a gold medal. We asked our little angel to do it a few more times and he delivered a perfect performance every occasion making us the proudest parents in town!. After his fourth or fifth “act”, I looked at my husband and said: “I wonder when is he going to sit up?”. Human beings are unsatisfied creatures by nature, we always want more and I was no exception. Once, all I yearned was for Santi to be JXG free and learning from most experienced parents the best way to deal with the condition. Yet, in the middle of the journey, I came in contact with many JXG families and my original goal felt too small. Today, not I only want this disease to go away from my son but not to afflict any other kid. My vision is a world free of JXG and where there are cures for all histiocytic disorders. In order to fulfill this new mission, this blog should: 1) Provide JXG families and their loved ones with information and emotional support. 2) Give people the opportunity to take action by raising funds for research, urging government officials to help the cause and increasing awareness. The task seemed enormous and endless but it did not matter to me. JXG has the characteristics of resilience and patience and so do I. I started my efforts by researching many successful organizations that share my vision. I learnt a lot about fighting histiocytosis and more ideas kept invading my brain. One of my steps was to contact the Histiocytosis Association of America (HAA) and after becoming familiar with their programs, I underwent their training and became one of their volunteers. I also created a Juvenile Xanthogranuloma Online Support facebook account to reach out to more families. With the help of some members of our group and HAA staff, I added a “FAQ” section to the blog and I improved the “News & Events” and “About JXG” sections of the page. In conjunction, I wrote to some local and national health shows asking them to have programs on histiocytosis (no success here yet) and I signed up to Change.org and similar agencies that provide petitions to benefit families suffering a rare disease. Lastly, I followed the advice of creating a new webpage for our group (with its own domain, hosting, etc.) and as I have no clue on how to do this, I asked for help to two of my computer savvy friends. They both said yes with no hesitation and jumped on the project right away. With so many things happening, I had very little time to stay in touch with my friends so when one of them finally got a hold of me, she said: why are you doing all this? It is not your job to fix this problem and when do you find the time for it with a 5 month old baby?” Well, I said: “if it is not the job of the JXG parents to fix the problem, who else is going to do it for us?. We know that because histiocytic disorders are considered a rare disease the government will not do too much about it. And regarding the time, I do my “Histio Activism” very early in the morning after I feed Santi his early breakfast. He makes sure I wake up”. After 4 weeks into my work, I started to feel exhausted and a little bit discouraged. The short nights and the lack of responses from many people and institutions were definitely taking a hit on me. My initial enthusiasm and optimism were fading away and isolation and impotence were looming back. Having worked against sexual violence and other forms of oppression, I recognized the symptoms. Sooner or later they attack anybody that fights any social cause. I felt confused about my new goal, “was I really overdoing it?”. I thought about it deeply and I realized that all these projects were my way to fight back, but something did not feel right. In the last couple of weeks, Santi had another episode of lesions. Many new bumps developed and the condition moved from his face and head to his back, neck and extremities. I cannot tell you exactly how many lesions he has now, I stopped counting when we crossed the 60 neighborhood. Besides, who cares about numbers at this stage! After a few more days of introspective thinking, I was able to see that my excessive work for the blog and the cause, although very praiseworthy, was a escape not to feel my anger, fear and powerless with this new relapse. But how could I find a balance? I kept wondering. Last Sunday, we all went to the zoo, and my question was timely answered. As we walked out of the manatees exhibit, I read in the wall: “We cannot do great things on this Earth, only small things with great love”—Mother Teresa.

*My deepest thanks to Andrea Arredondo, Esteban and Carolina Soza who joined the cause by helping with the creation of a new Juvenile Xanthogranuloma Online Support site.

REACTIONS TO THE BLOG (17 weeks old)

“Alone we are rare. Together we are strong" was the slogan for Rare Disease Day 2010 and this blog just proves it right. About a month and a half ago when I started to write, I never imaged that the Juvenile Xanthogranuloma Online Support blog would achieve all its initial goals in such short period of time but it has!. I am thrilled to report that through the blog, we have been able to create a JXG Roster that, as of today, has twenty members from all over the country, Canada, Belgium, England, Malaysia and Australia. All its parents (and I use the word “parents” because we have a dad) are available to give each other support via phone, email or facebook. While some folks feel more comfortable talking with someone with the same diagnoses (we have cases of Skin JXG, Systemic JXG and Ocular JXG), others rather connecting with members that live in the same state or whose children are the same age. In my case, I have found that communicating with all of them at once is the best resource of information imaginable. Thanks to the info gathered within the group, I was able to advocate for Santi to have blood-work done and ask more informed questions to our doctors. But besides this sharing of notes, the encouragement, validation and understanding offered by the other parents have been invaluable in restoring my sense of balance and sanity. Special mention deserves all the emails that I have received. Each of them has moved me immensely and given me more strength to keep going with this project. Some of the parents who wrote were, same as me, pretty new at dealing with JXG. They had my same questions regarding differences in protocol, statistics and I could feel the worry and anxiety in their words. Almost all the emails talked about the obstacles that the families needed to overcome just to get the right diagnoses: long trips to medical facilities, months of jumping from doctor to doctor, and several trials of unsuccessful treatments were the common denominators. A few of the readers opened up and told me that they saw their own reflections in my breakdowns, relationship struggles and parental feelings that we are not supposed to have. Finally, the messages from parents whose kid’s lesions are healed or almost healed, were very uplifting and full of hope. Some of these readers sent me pictures of their children’s lesions prior JXG and after JXG and they always mentioned how they could relate to parts of the story. Another wonderful surprise has been the support offered by non-JXG-related people, some of which, I have never met. One of my 3er cousins, that I have not seen in at least fifteen years, decided to translate my texts to Spanish. He said he wanted to support the blog and help Spanish speaking JXG parents not to feel alone. A friend of a friend, who assesses websites for a living, provided me with a complete evaluation on how to improve the blog and gave me many excellent ideas to reach more people (hopefully, we will be able to implement some of her suggestions in the near future). But, since this is the real world and not Disneyland, there is the other side of the story too. After writing the texts: “Asking for Help”, “Looking Inside” and “Not always on the same page”, I have received some pretty harsh criticism. One reader told me that “I was putting myself in a victim role and that I was expecting people to pat my back but she would not do that”. A few others wrote saying that “I was exaggerating and seeing things out of proportions and I needed to remember that JXG was benign and temporary”. Other follower indicated that “I should reevaluate my priorities because it was clear to him that I was putting the disease before my son and husband”. And someone suggested that “instead of spending time writing this blog, I should play with Santiago or return to work”. As you can imagine all these comments were painful to read and as a consequence I stop writing for several days. I felt too exposed and hurt and I needed some time to rethink about my commitment to truth. After this time to cool off I was able to see that: 1) None of these opinions came from people that dealt with JXG, actually all of them started with something among the lines of: “I never experienced JXG and I can’t imagine what you are dealing with, but…”. 2) People who wrote them did not mean harm. They just lived my distress so vividly that they were too upset to comprehend the point of the blog. So, here is my conclusion: I accept that not everybody is going to understand what I am trying to do, that not every reader is going to like each of my columns and that from time to time I will receive negative emails, yet I will not reply to them anymore. The purpose statement of the Blog clearly says: “Take whatever is useful to particular situation and leave the rest!” and the option of not reading the blog is always available. At the end of the day, I am not willing to turn down the intensity of my writing or my desire of being frank to avoid upsetting people or getting unkind criticism. The rewards completely outweigh the risks!

THE BLOG (16 weeks old)

I started to write this blog the first Sunday of February, 2010. I remember it well because it was Super bowl Sunday and I could not focus on the game at all (not that I am a crazy American football fan either). I went to the office and sat down at the computer for a while, I really did not know where to start or how. I just wanted to connect with other JXG parents wherever they were: "a very simple goal". The only thing that made sense to me was to write about our story, and I made a conscious choice of telling the good, the bad and the ugly. I am a firm believer that for anything to be good, it has to be truthful even if that means making myself vulnerable or upsetting other people. I wanted this blog to be very good (not just good) and make it a safe place where people could share the feelings that they do not show anywhere else. This was part of the beauty of using the internet. Writing has always helped me processing difficult moments of my life and this time has been no exception. But besides, creating a “stress releaser” for me, I wanted to validate other parent’s journeys with JXG. After I wrote my first text, I went to Google to find my blog and I learned, to my big disappointment, that the Internet is not magic and my page was not showing. I ran to my husband to tell him what happened and he said that it would take about a month for my page to show up, he said that Google needed to “index” my page. “What do you mean?” I said, “Google gotta be faster than that. Plus, I do not want to wait a month to connect with JXG parents”. I left the room thinking that my “tech support guy” did not know what he was talking about and I emailed my Internet savvy friends (who do this for a living) just to find out the same answer. They told me about “mega tags”, “crawlers” and websites that would help my blog to show up faster in the net. Someone also suggested to email my friends and family and ask them to visit the site often. What a pain! I thought. I hate dealing with computer stuff (I am terrible at it) and I am not sure if I want to share my inner feelings with people that know me so much. But well, if that was what was needed, I would do it. So I did the best I could with the mega tags, I posted notes about my blog in all the Spanish and English speaking histiocytic associations that I could think of, also left comments in all blogs, forums and facebook related sites and I emailed my friends and family. A few days went by and nothing, I checked the computer every couple of hours and it was always the same: no comment, no reader. I kept writing to fulfill my venting purpose and one day when I opened the blog, surprise, I had a reader, yeah! I clicked and found out that it was my sweet husband. I Kept writing and sometimes was hard to relive some situations but I wanted to tell the events in chronological order and stick to my goal of honesty. More days went by and more readers show up, always friends and family members that were giving me their support. I started to lose my confidence and told my husband that no one besides him, some friends and family were reading the blog. He assured me that was not the case and to prove his point he installed a visitor counter. To my surprise, he was right, I do not have such big family and I have not that many friends either. So someone else was reading the blog but who? Were they JXG parents?. A few days later, I opened the blog and a “Michael Golding” showed up as a reader. I did not know him, which meant that he was a "real" reader!. It took me forever to figure out that he was the same Michael Golding of the “Sydney Salem Golding Fund” that had inspired me so much. Mike gave me the names of all the JXG families associated with his organization (Histio Heroes Research Fund), and since that moment he has been a great asset to the blog and a wonderful role model. With this information, I looked everybody up in Facebook and emailed each of them. I finally connected with my target audience!

*My most sincere thanks to Michael Golding and the Histiocytosis Association of America that have helped me to connect with other JXG parents and have provided Histio families with much needed leadership to find a cure.

RARE DISEASE DAY, FEBRUARY 28, 2010

Denial is a powerful mechanism and the foundation of the saying “ignorance is a blessing”. In my many years educating against sexual violence, I dealt with it firsthand. I had people playing with their cell phones during my presentations, falling sleep, and even walking away. As the matter was only job related, I did not take these reactions personally. I was bursting people’s imaginary bubble of safety and they did not like it. Eventually, I knew they would get it. Today, my baby is one of the 30 million Americans affected by one of the 7,000 conditions labeled as a “rare disease” and I am up against denial again. The issue hits too close to home to have the patience to accept people’s indifference. According to the National Organization for Rare Disorders (NORD), some of the challenges that families afflicted by these conditions experience are: Difficulty in obtaining a timely, accurate diagnosis. Limited treatment options. Difficulty in finding physicians or treatment centers with needed expertise. Treatments that are generally more expensive than those for common diseases. A sense of isolation and hopelessness. I said yes to all of them!. Rare Diseases are considered “orphaned”, meaning that they affect too few people to warrant government-funded research. As I started to learn more about histiocytic conditions, the concept of our children suffering and dying in such small number that our tax money is not worth to be spent on finding a cure became more UNACCEPATBLE and ABSURD. We must make a change but how do we get public support? I started by thinking of my mind-set before JXG. What would have been necessary to catch my attention then?. After all, I was a “privileged” healthy women with a perfectly “privileged” healthy family and Rare Diseases could not been further away from my reality. Here are my answers: 1) I would need to realize that it could happen to me or someone that I care about. 2) The information would need to come from someone that I respect in a very “easy-to-understand” manner so I could remember it and 3) I would need to believe that my actions could make a difference. If you are reading this blog, you already covered point 1, so let’s talk about 2 and 3. It is nearly impossible to learn about all rare diseases so let’s pick one or two and process them so well that they became as easy to digest as baby food. This is how I explain histiocitosis conditions and JXG to my friends and family: “Histiocytic conditions are associated with an excess of white blood cells called histiocytes which function is to fight infections. They are part of the immune system but for some unknown reason they start clustering. In most cases, histiocitosis diseases attack children under 10 and some of them are life-threatening and need to be treated with chemotherapy or steroids. They are not the same as cancer though, one of the difference is that sometimes they can regress without treatment, like Santi’s condition. In the case of JXG, the histiocytes believe that foreign materials are in certain parts of Santiago’s skin and they accumulate one on top of another forming bumps. Sure, this is not the best medical explanation out there but people can understand it and therefore pass it on. Working on point 3 now, if we share our knowledge of rare diseases with one or two of our friends and they do they same with other friends, eventually will be a big group of people raising our voices and the Government will need to listen. Also, imagine how much comfort and support families that are battling theses conditions will feel just by knowing that they are not alone and that you took the time to learn about Rare Diseases. If we want to speed things up a little and be more aggressive, we can write a letter to our representatives or to the editor of you local newspaper (please visit our "Take Action" section). To close this article, I am attaching a link to a very powerful video that the Histio Hero Research Fund put on You Tube: http://www.youtube.com/watch?v=tuoqonZwlqg. For some people, educating themselves about Rare Diseases is a downer, they do not want to leave their happy bubble for a minute. But to me, the real downer happens each time a “privileged” healthy adult rather live in comfortable ignorance instead of helping sick children to find a cure.

*In memory of all the “Histio Angels” that lost their battle against Histiocytosis and in honor of all the “Histio Warriors” and their families that are still fighting it.