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.

NOT ALWAYS ON THE SAME PAGE (15 weeks old)

So what happened when I googled Juvenile Xanthogranuloma Support? A bunch of websites with information on JXG came up but nothing about support. Then I tried, Juvenile Xanthogranuloma Group, the same. I typed Juvenile Xanthogranuloma Blog and I finally found a place where a mom was telling about her daily dealings with the condition (see “My Two Happy Home Schoolers blog” under the "About JXG" section). There were many notes from parents like me that turned to cyberspace for answers and they wanted to connect with each other. I spent the following 3 nights “hunting” blogs and discussion forums and I posted my comments in ALL OF THEM. I anxiously waited a couple of days but nothing happened. After a few more nights of short sleep, I decided that I was going to form the first “JXG Online Support Group”. I was so excited about my idea that the minute my husband got up, I told him about it. “Good luck with that. You are going to be the only one out there” he said. I told him for the 40th time about the online notes I read. He proceeded to point out again, that Santiago’s condition was not life-threatening therefore people would not find a need for a support group. I was furious and as a result we had one more of our JXG related fights. In the early days of Santi’s diagnoses, one experienced friend told me: “you need to be really careful how you handle this. It can cost you your marriage if you do not”. What an exaggeration and what a bad timing to tell me this, I thought. Three months from that day, I can tell you that JXG has brought a lot more moments of tension than I initially anticipated. For some weird reason, it seemed that our timing was always off. Example: despite his initial lack of enthusiasm about my idea, nowadays, my husband is the technical support of the blog (I am not a computer person at all). The same thing happened when I wanted a second opinion about Santiago’s condition. He did not think it was that necessary and at the end, he was the one that contacted the doctors and made the arrangements. Our reactions about JXG were always different too. There were moments that made me very sad or upset and he remained positive instead. When I was anxious thinking of internals bumps, he would say: “Skin JXG is just an annoying disease. It doesn't do anything but it takes forever to go way”. I used to count Santi’s spots and while I would freak out every time I there was a new one, his reaction was: “They’ll go away baby, do not worry”. It drove me crazy, didn’t we have the same kid with the same condition? It was not until I saw him touching Santiago’s head in circles with his whole palm extended that I figured it out. That was his way of counting them and feeling if they grew! Recently, and only after I was doing better for a couple of weeks, he finally said “I wish JXG would go away. I hate it”. I was so upset and fragile before that I did not leave any room for him to let his guard down. It would have not served Santiago that both of us were crying, mad or sad at the same time. Most men are wired to be “fixers”, they feel good when they can solve something. Women, on the other hand, usually feel better just by expressing our emotions. The talking does the healing for most of us. Dr. Gray titled his book:“Men are from Mars, Women are from Venus” and even though I believe that both genders have more things in common than not, processing JXG was not one of those for us. And it was not a bad thing!

*To my adored husband, who always supports my dreams and keeps loving me even when I don’t.

LOOKING INSIDE (14 weeks old)

As I continued working with my counselor, I was able to identify three other feelings that were eating me inside: fear, guilt and shame. I felt so bad about them that it took me a very long time to admit that I was harboring them. To have the most precious thing in your life been affected by a disease that doctors know so little about and has no standard treatment or protocol, absolutely terrifies me. Knowing that JXG could develop internally or in Santi’s eye is like having a ghost constantly haunting the back of your mind, no matter how low chances are. I used to look for new lesions every time I changed his diaper (which translates to almost 8 times a day!) and I would stared at his iris in the light, looking for the orange spots. I also did not want us to go out because of fear to have another New Year’s experience. I decided that we should only visit family and close friends who already knew about his condition. It was even harder to acknowledge how guilty I felt about having these feelings. I knew of other children with histiocytic diseases that needed to undergo surgery or chemotherapy. I should be grateful that Santiago’s condition was benign and temporary and that was what I told people. However, deep down in my heart, I knew it was not true. I kept comparing us with all the healthy kids instead. But the hardest one to recognize was my feeling of shame. It was so quietly embedded in my soul that it was not until my counselor said to me: “it sounds like you feel embarrassed by Santiago’s spots”, that I would allow myself to admit them. What type of mother for Peter’s sake feel ashamed of her baby’s appearance?! I was the shallowest person in the world, a monster, and I cried an ocean for confessing my sin.“I completely hate Santiago’s spots and feel ashamed by them and the way that people look at us because of them”. There, I finally said it! After I put myself back together, my therapist told me that to feel bad about feelings is as crazy as saying “I feel bad because I sweat when I run”. Feelings form in our hearts in response to our circumstances and we cannot control that. However, we can decide “what to do” with them but for that, we must acknowledge them first. As the next step towards accepting JXG, my counselor suggested to join a support group for parents whose children have been diagnosed with JXG and I thought that it was a fantastic idea!. I wanted to teach Santiago to live his life pursuing happiness not avoiding fear. This meant for me figuring out how to coexist with JXG instead of being governed by it and who better than other parents to show me how. I went home and for the first time I sat at the computer looking for support instead of information on JXG. I went to Google and I typed “Juvenile Xanthogranuloma Support”.

ASKING FOR HELP (14 week old)

After rescheduling Santiago’s abdominal ultrasound 4 times (no exaggerations made), I decided to call my former counselor. It became clear to me that all my copying mechanisms were failing in lifting my sadness and that anger and desperation were building up rapidly. I also realized that my husband was more concerned about my well being at this point than Santiago’s and that was not fear to him. In my first session, I talked for at least 45 minutes without taking a breath and then I cried, I cried a lot! The first big realization I had was that I was going through a grieving process regardless nobody was dead. I was grieving that “the way I always imagined having my baby” was not going to happen for me. When I walked into a room, people would not come to me to tell me how beautiful my baby was (most of them wouldn’t) and my biggest concern raising a baby would not be his teething pains or an ear infection. Dr. Kubler-Ross identifies 5 stages of grief and I definitely walked through all of them:1) Denial: despite the fact that I was told twice by different doctors that Santi seemed to have JXG, I did not believe it until the biopsy results came. Even then, I still thought that his case would not be severe against her dermatologist’s warning. For a long time I would skip going to the histiocytic websites because those diseases were really bad and my Santi’s was not. 2) Anger: to say that I was mad is an understatement, I was furious. I was angry at God, at myself, at my husband, at my family and at the whole world if you asked me. Why was this happening to my little angel? Why us? It is estimated that 500 kids are diagnosed each year in the US with some type of histiocytic disorder. The chances are almost as tiny as to win a lottery, a very bad one and yet we got the winning ticket! 3) Bargaining: I started to negotiate with God. I asked him to take the JXG away from Santiago and give it to me instead. I also offered him to give me any other type of disease he wanted if JXG was not of his preference. I started to pray to Saint Expedito, a Saint that helps in urgent causes (I still did not want to believe that JXG came to stay for a long time). I used to pray three times a day, sometimes four. I knew I was not praying, I was telling God what to do. 4) Depression: when I realized that God and Saint Expedito were not doing what I asked, after I was mad to almost all my family members and friends, and I had several fights with my husband, I gave up. I felt completely powerless over JXG. It was obvious to me that there was nothing I could do about the spots besides watching them grow. I felt that I was failing Santiago as a mom. I had a horrible sense of loneliness. Nobody seemed to completely understand what I was going through, not even my husband. Close ones either tried to minimize my feelings, wanted me to be “positive” or they seemed to be in a worse place than I was. 5) Acceptance: when my counselor suggested that I should try loving Santi’s bumps since they were part of his body, I thought she went crazy. When she said that she was concerned that I did not want to come out of my house and wanted me to join a “mommy class”, I thought she was insane. When she pointed out that Santi and I were more “normal” than not, I thought: “that is because you don’t know how people look at us” and when she kept repeating that I was a smart and loving person and she knew that I was going to figure this out with time, I could not visualize it either. However, the fact that she could was already making me feel better.

*My eternal thankfulness to Marilyn, who have helped me work the most difficult issues in my life and have always listened to my truth without judgment.

A BIGGER ISSUE FOR THE PARENTS THAN FOR THE KIDS (13 WEEK OLD)

The day we returned from Maryland, we had an appointment with Santiago’s dermatologist. He was scheduled to see his doctor a month from that day but due to the increasing numbers of lesions and because some of them were developing under his skin, I asked to be seen as soon as we arrived in Columbus. Dr. Witman and her group of residents checked Santi’s new spots carefully while they quietly listening to the details of how the condition was advancing. My husband brought a recent medical paper from 2007 that had many statistics about JXG and we discussed it with the doctors. We wanted to hear them saying that the scabbing of the lesions meant that they were healing, that Santi was like the kid on the medical journal whose spots went away at 4 months but they could not say that. Dr. Witman, explained to us that the peeling and scabbing were part of the normal life cycle of the lesions, however, the yellowing was a sign of maturity. She also told us that the bumps under his skin were not “soft tissue” JXG and that was a great relief! We told her that we wanted to get a second opinion and she gladly gave us the name of 3 very well known children dermatologist in the US and offered to write a letter to our insurance in case they would not cover out-of-state consultations. I brought up again my concern about Santiago’s abdominal pain but this time I could not hide my tears. I told her about my struggle with his condition and she assured me once again that Santi was not in pain. I shared my fears of Santi being discriminated by his appearance and asked her about the possibility of removing the spots. She said that only if by age 6 the JXG did not go away, she would suggest plastic surgery for cosmetic reasons. She explained that plastic surgery will leave scars and there was no way of knowing how big they would be. On the other hand, she said: "we know that mother nature will take care of them with time and most of them will disappear without leaving any marks. Only for the big papules there is a risk of having a residual extra skin (kind of what happens when you take the water out of a blister) and then we would have our friends of plastic surgery help us”. I understood her logic but I still did not like her answers. So I vented, I vented it all, and she listened to me with no rush and an enormous sense of compassion. After I calmed down, Dr. Witman said that she was going to request an abdominal ultrasound for Santiago and that the Ophthalmology Department see him immediately. I thanked her deeply and we were sent to have the eye exam right there. Santi hated every single minute of it. The tests were not painful but long, and for a 3 month old to have all those light going to his eyes and not been allowed to close them was very uncomfortable. Plus, he wanted to sleep and we would not let him. After 2 hours of tests, the ophthalmologist said that his eyes were clear and taught us what signs to look for in case the JXG develop in his iris. She agreed with Dr. Witman that Santi should have these tests every 3 months until he was 2 years old and scheduled our next visit for April. We came home completely exhausted. I called the Radiology Department to make the appointment for the ultrasound and was told that Santi should not eat for 4 hours prior. I told the person on the phone that he was only 3 months, that it would be torture for him not to eat for that long during the day. She repeated again: “4 hours, ma’am”. As my husband left for work, I kept wondering if we were doing the right thing? Did we really need to travel 6 or 8 hours and have a second opinion to hear the same thing? The literature was pretty forward about Skin JXG course of treatment (meaning nothing you can do about it) and there was no doubt about his diagnoses. Did Santiago really need to go through an ultrasound because of the JXG or because his mom could not control her anxiety? I started to realize that maybe this was a bigger issue for me than for Santiago. Then, when a month later I found Dr. Sheila Weitzman video lecture on YouTube (available on our " About JXG" section), her words changed something inside me. “This is a real cosmetic issue for the parents. The kid obviously does not care at all but the parent does…”





*Our deepest gratitude to Doctor Patricia Witman and her team of residents who have been taking care of Santiago with great knowledge and sensitivity.

A VERY SAD NEW YEAR’S EVE (12 week old)

As the last couple of years, we decided to spend our 2009 holidays at my parents-in-law’s home in Maryland. I love going there because we receive tons of love and we are always so pampered that it feels like being at the best resort in the world. Unfortunately, about a week after we arrived, Santiago experienced his strongest episode of JXG and the number of lesions almost tripled in a matter of days. I knew that he could develop more spots, our dermatologist warned us about it, but I never thought he could have so many. I started to feel very concerned about his future. I was afraid of other kids making fun of him at the playground, moms not allowing his children to play with him afraid that he could be contagious and more than anything, I was afraid that people would see his spots instead of seeing him. My mom-in-law, who has a child development degree, also shared my fears and we spent a lot of time thinking of how to prevent the inevitable. Those days, I used to start almost all my sentences by “I am concerned…” and as my husband said it best: “the only thing worse than you worrying about Santiago all the time, is you and my mom, together, worrying about him all the time”. Santi was also having a pretty hard time with his acid reflux and was vomiting nearly every night. Besides, every time he pooped, he looked as he were in a lot of pain and even cried at times. I knew it was not unusual for babies to puke daily when they were this little and that most of them had very painful faces while they are working on a poop. But I could not help to wonder if it was the JXG that was developing internally what was making Santiago this uncomfortable. I started to search the Internet again and I drove my husband crazy until he helped me accessing medical papers from Google Scholar about JXG. I was done with the “yara, yara websites”. I wanted the real thing. Well, if you ever try reading medical journals without being a doctor, you will find it nearly an impossible mission!!! Every two sentences you need to look up something in the dictionary that it is usually defined with another word that you also have to look up. On top of that, add the fact that English is my second language, and there you have the perfect recipe for a frustrated and “over-the-edge” mom. New Year’s came and since my birthday is on January first, my mom-in-law cooked a delicious meal in my honor and invited some of my best friends along with other close family members. I had such great time that after supper, when the time to go a “New Year Party” came, I completely forgot to put Santi’s hat on and boy, did I pay the price! Upon our arrival, we were introduced to a bunch of people, including the host’s very healthy, five month old grandson. It was now our turn to present Santiago and even though nobody said anything, I saw how people were staring at his bumps. I was trying to keep it together when the host came to me and while covering her mouth with her hand said “Oh my God, what happened to this baby’s head” with a face of horror. I tried to minimize it and I told her that he had a skin condition that was benign and it would go away. She left without saying anything else, but the damage was done, I could not restrain my tears. As I was telling my husband that I wanted to leave immediately, the host’s son and dad to the healthy baby, came up to us and asked about Santi’s spots. I let my husband answer because I knew that if I opened my mouth I would start crying right there in front of everybody. After he finished the short version of what Skin JXG was, the guy said “…good to know that it will go away. I have friends that have a kid with cancer…” and he went on and on comparing our situation to his friend’s without realizing it. Needless to say, I was in bed by 11 pm crying and with no energy to make myself stop. The following morning I woke up feeling the same and I stayed in bed most of the day. Luckily for me, I got the worst cold that I had in years, so I had an excuse not to get out of my room. I was officially falling into a depression and I did not care.

SHARING THE NEWS (11 week old)

My husband and I though very deeply about how to share Santiago’s condition. Who to tell? How much info to give? At the end, we decided to send a email only to our closest friends and family members, explaining what skin JXG was (we added some links) and describing the medical procedures that Santi went through (i.e. biopsy) and what was next for him (i.e. eye exam). We believed that as he only had a few lesions (5 on his head and 3 on his face), we would put a hat on him and say that the spots in his face were moles. If you are reading this blog, you probably realized that this first plan did not work out for us. The main reasons: People’s reactions, our reaction to people reactions, and the new lesions that Santiago kept developing (as of today, he has over 50). Here are the three types of responses that we encountered: 1) Those that seemed not to have read the part where we said that Santiago had a confirmed diagnoses via biopsy and offered other possible “explanations and course of treatments” . 2) Those that read the email and called right away to offer their support and asked how they could help, and 3) Those that thought that everything was already taken care of and there was no need to contact us. Well, for any significant other reading this blog, “option 2” is the way to go. Number 1 and 3 were painful and even offensive at times. I had people telling me that maybe “my milk” was the reason of Santi’s spots and I should stop breastfeeding him for a while. Others who told me that he could be allergic to our dog, so we should send the dog away for a couple of days. Some others suggested that the spots were a family condition that could be treated with papaya milk, and we also had those who did their own research and came up with other possible diagnoses, treatments and potential problems. Do not get me wrong, I completely understand that all these opinions came only from the most sincere concern that people that love us and love Santiago had. But ultimately, they were not good for us! I was so fragile that I actually thought thoroughly about each of these opinions, forgetting that I already had a biopsy and doubting the knowledge of our doctors. It was also exhausting to be educating people about Santi’s condition over and over. To my surprise, many loved ones seemed not to have read the links we sent about JXG and we had to respond the same questions many times. Lastly, in a few occasions, I ended up comforting others who felt so distressed by Santi’s appearance and possible consequences that did not realize I was the last person to share their concerns with. On the other side of the fence, people on group number 3, made me feel extremely lonely. I tried to make excuses for them. I thought: “Well, the holidays are just around the corner and people are all over the place”. “They live so far away and they never met Santiago. They do not get it”. “It could also be our fault. We did not clarify in our email what we needed from them, maybe our tone was to calm”. Now that many weeks have passed and I am in a better place, I see that every interaction, positive or negative, had a magnified effect on me. So here is what helped. The loved ones who called every couple of days or after Santi’s appointments just to check on us and also talk about others things besides his condition. People that told us that Santi was on their prayers and thoughts, and offered their support in any way, shape or form we needed. And those that let us know that were educating themselves about JXG. Writing about these days is not easy for me. My intention is not to place blame on anybody or make anybody feel bad. I only hope that one day my words will help a parent or loved one that just received the news about JXG and is wondering what to do. That day, all this work will be worthy!

* My warmest thanks to the Nuñez Campero Family, specially Pia, Fita and Juan Manuel, who have been accompanying us since the very beginning.

A DIAGNOSES THAT PUSHES ALL MY BUTTONS (8 to 10 week old)

I remember very well the morning that we drove to Children’s hospital to receive the results of Santi’s biopsy. My husband was listening to NPR on the radio and my mind was completely blank. No one said a word and once again I was in auto-pilot mode. When Dr. Witman came to the room with a big smile, I knew she got good news, Santiago had Cutaneous JXG. What a relief! I could breathe again! She said that out of all the histiocytoses diseases, Skin JXG is the most common one and the least dangerous. This was really great news until we started to ask questions: “What do we do now?”, answer: “There is no treatment. The condition reverts by itself.” “But when?”, answer: “We do not know exactly. It usually regresses between 3 to 5 years but there are kids that take longer and others that take less”. “ Isn’t there a lotion or special cream we could use?, answer: “No, since JXG is not caused by a bacteria or a virus, we just need to let mother nature takes its course”. “Why did he get it?”, answer: “We do not know. The cause is unknown”. “How many more spots is Santiago going to have?” answer: “We do not know but probably more as he has a multiple expression of the disease”. “How much bigger are his current lesions going to get?”, answer: “We do not know. Papules are usually under 0.5 cm but there are giant nodules, called giant JXG, that are 4cm or more. Like the one he has in his head (the one we initially thought it was a bump)”. “Is he going to get more of those”. Answer: “We do not know for sure but hopefully not”. “Will they hurt him”, answer: “No. The lesions are asymptomatic but can be a problem if they grow in an area of the body that interfere with normal functions, i.e. his eyelid”. WHAT TYPE OF MEDICINE WAS THIS? My feelings of relief were starting to disappear and my anguish was coming up again. Dr. Witman mentioned that the eye was the most frequent organ involved with cutaneous JXG and even though the occurrence was low, earlier detection was key. Santiago would need to have an eye exam every 3 months until he was two years old. I asked her if his severe acid reflux could be linked to JXG. She said that probably not but she could not give me a definite answer. I asked her if we could test him for it and she said that we could, but she thought it was unnecessary since Santiago was developing normally and gaining weight. I gave her my most confused looked and she said “Even if something showed up in the scan, I would not remove it. The only way we could do that is either by surgery or chemotherapy, none of those are recommendable for young babies unless it is indispensable. Santi is responding well to his acid reflux medicine”. On the way back home, my husband was happiest as he could be but I was not and I knew very well why. If you asked any of my bosses about my qualities, they would probably tell you that my planning and organizational skills are my biggest assets. If you asked my husband about them, he would tell you that I am a control freak, and he is absolutely right. I have too many years of therapy not to recognize that I do not deal well with uncertainty. It drives me crazy! I also have a really hard time focusing mainly in the present instead of anticipating the future. JXG was asking me to face my two biggest weaknesses and I was not ready for it, specially with something that involved my little prince.

WHEN THE INTERNET BECOMES YOUR WORST ENEMY (6 to 8 weeks)

I came home from the hospital with the name of the disease written on a sticker. “Juvenile Xanthogranuloma”, I could not even pronounce the stupid word. I looked it up online and there it was, sure the spots that these kids had were like my Santi’s. It had to be this condition. Surprisingly, there was not tons of websites that popped up right away with clear or easy to understand language, but all of them were in the lines of what our dermatologist told us. Still in my auto-pilot mode, I emailed the news to my husband and parents in-laws and I added some JXG basic websites. Now, many months later, reading that email, I see how naive I was. The “happy go lucky” tone and the minimization of what happened show how powerful denial can be. In the following days, my husband and I surfed the web intensely and discovered that JXG has two types of manifestations: 1) a cutaneous (skin) one, mostly benign and that regresses by itself. Nevertheless, in very few occasions, it can develop in the eye or internal organs in which cases surgery or chemotherapy are required and 2) Systemic JXG, that can present in the brain, liver, kidney, marrow bone and /or longs, and it could be associated with leukemia. This form of JXG has a risk of mortality and not always presents skin lesions. The stories that you find online about babies and parents fighting this disease are just heartbreaking (please read Sydney Salem Golding’s story: http://www.sydneyfund.org). I cried myself to sleep many nights and during the days, I would go to the bathroom to sob quietly thus my baby could not hear me. The last thing I wanted was to transfer my anguish to Santiago. My husband was amazing, always trying to keep me grounded in the present and reminding me that we did not have a proven diagnoses yet. He eventually learnt that whether I had a confirmed label for my baby’s spot or not, the only thing he could do was to hold me and kiss me until I calmed down. This WAS NOT how I imagine spending the 2nd month of the life of my child and I felt that we, specially my little angel, did not deserve to be in this situation. Oh gosh, how angry I was!

A VERY LONG WAIT (4 to 6 week old)

It took almost a month to get to see the dermatologist at Children’s Hospital and even though it was a long wait, I was not worried about Santi’s skin condition. The spots did not seem to bother him at all and his acid reflux was by far more annoying to him. He had a very hard time latching and breastfeeding became a nightmare time for both of us. Then Thanksgiving arrived, and we hosted our first dinner and had out-of town family staying with us. With so many things happening, the new spots that Santi developed in his head, legs and back were not that concerning to me. I was sure they had to be some sort of allergy (my husband’ side is prominent to have all sort of allergies) and the opinion of our pediatrician’s colleague was not one from a specialist. Plus, we spent a whole Sunday looking at pictures of kid skin conditions on the internet and nothing, absolutely nothing, looked like the spots that Santi had! On the day of the appointment, I told my husband that it was not necessary that he came with us (he already missed a few hours of work due to other doctor visits) and I thought that the most that could happen was that the dermatologist would prescribe a lotion for the spots. Our Children Hospital is a teaching hospital, so if you watch “Grey’s Anatomy” that is exactly the type of feeling you get. First, we had a young doctor, “George O’Malley”, who introduced himself as a resident and checked Santi’s spots. He said that he was pretty sure he could identify what Santiago had and that it was not dangerous. He also mentioned that Santi’s bump was not a bump but a lesion of the same condition. I was so relieved that he recognized the spots so quickly! A few seconds later, Dr. Patricia Witman (the equivalent of McDreamy"), came and checked the marks and agreed with George’s assessment. She was 90% certain that my baby had “Juvenile Xanthogranuloma” (JXG), a rare and benign disorder typical in babies and young children, that usually goes away in 3 to 5 years and whose lesions tend to disappear on their own, without any kind of treatment. What? What did she say? I was in shocked, happy and upset, at the same time. Glad to hear it was nothing dangerous and distress that our pediatrician’s colleague was right! But that was not the end of the surprising news, Dr. Witman told me that unfortunately, JXG belongs to a family of diseases called “Histiocytoses” where there are too many histiocyte cells in the skin. Normal histiocyte cells are part of the immune system, alerting infection-fighting cells to the presence of foreign material such as bacteria However, some of these histiocytosis were not benign and the only way to know what type Santiago had with 100% of certainty was by biopsy. From that moment on, I was in “auto pilot mode” and I stopped feeling anything. I agreed to the biopsy to be performed right away and also that my baby’s lesions would be photographed for teaching purposes and to have a base line of his condition. George performed the biopsy very quickly and besides the initial stain of the anesthesia shot, Santi did not feel pain. Of course to see my 9 week old baby, laying on the medical bed while crying at the top of his longs was devastating and I had tears coming down from my eyes during the whole procedure. I regretted so much to have told my husband not to come. Once the skin sample was removed, “Dr. O’Malley” closed the wound with one stitch and told us that the results would be ready in 2weeks…more waiting ahead!

THOSE TINY PINK SPOTS (4 week old)

Last October, in a very cold afternoon, my husband and I were blessed with the arrival of our little angel, Santiago. The joy and wisdom that Santi has brought to our lives have been indescribable and crucial to our daily dealing with Xanthogranuloma (JXG). At around his 4th week of life, I noticed two tiny pink spots by Santiago’s right eye that did not look like the rest of his regular “baby acne” and a big “red bump” in his head the size of a raisin. After asking my husband and mother-in-law about them (no one remembered bumping the baby’s head into anything), I decided to make a doctor’s appointment. Fortunately, our pediatrician saw us that same afternoon and she agreed that “those tiny pink spots” were not baby acne and told us not worry about the bump. As she has a lot of experience, I did not like at all that she did not recognize the spots right away, but before I could say anything, she told us to wait to have another colleague take a look at them. After a few minutes, the new doctor (whose husband is a dermatologist), came and gave her opinion: “mmm….this look like a skin condition that a patient of my husband had. I do not remember the name of it but it is usually benign and generally goes away by itself by school age”. I almost had a heart attack! What was this lady talking about? Once again, my face must have shown such a horror that before I could open my mouth, our pediatrician told us that she would make a referral to the Dermatologist Department at Nationwide Children's Hospital in Columbus. Before we left, she explained that since the spots were not a life threatening condition, it could take a while until we got in for the appointment.

*My most sincere gratitude to Dr. Gray who has always taken care of  Santiago with uttermost love and excelent medical diligence.