Monday, February 29, 2016

Rare Disease Day--Our Blake

Today is Rare Disease Day, and people all over the world with children that have rare diseases are bringing more awareness to their child's diseases or disorders. Until this year, I never considered any of my kids to have a rare disease. I decided to look up "mastocytosis," the disease that my middle child, Blake, was born with, and there it was, on the NORD website (National Organization for Rare Disorders):

Mastocytosis is a rare disorder characterized by abnormal accumulations of mast cells in the skin, bone marrow, and internal organs (liver, spleen, gastrointestinal tract and lymph nodes). Cases beginning during adulthood tend to be chronic and involve the bone marrow in addition to the skin, whereas, during childhood, the condition is often marked by skin manifestations with minimal to no internal organ involvement and can often resolve during puberty. In most adult patients, mastocytosis tends to be persistent, and may progress into a more advanced category in a minority of patients. Mastocytosis can be classified to a specific type depending on the patient’s symptoms and overall presentation.

Blake when he was around one year old.

Blake presented with two spots on his stomach that looked like birthmarks. The doctors and nurses said nothing was wrong and did not suspect a thing. It wasn't until we took him home from the hospital that things got scary. He would flush, or turn red, over his entire body. I remember holding him and watching as the redness would start just around his nose, and slowly spread until his whole body was red. The next symptom was blisters on the large spots on his stomach, and they looked so painful.

When he was just a week old, I took him into the pediatrician and showed her what was happening. She had no idea what would cause the blistering, and wasn't sure about the flushing, either, but guessed it was impetigo and prescribed some cream. When that didn't work, I came back a week later, more scared than ever. I pleaded with her to tell me what was wrong with my baby. She told me she had no idea, and that I could call the dermatologist, since it seemed to be related to the skin.

I called that day, and of course with most specialists, there was a back up of 4 months just to get an appointment. But when you are a mom, sometimes you can't take no for an answer. In tears, I begged the nurse on the other line to get my child seen right away. I told her that something was really wrong, and I was scared to death. I told her about the symptoms, and how when he flushed he squirmed and seemed so uncomfortable, and that he now seemed itchy. She said the best she could do was put him on a cancelation list. I did everything I could to help him--the only thing left was to pray.

The next day, just before he was 3 weeks old, I got a call from the dermatologist office--they had an opening and wanted me to come the following day. I cried and thanked them. I was so relieved that I would finally get answers for my son's symptoms. Google was no help, and my pediatrician was stunned, so this had to be the place where he would get some kind of diagnosis.

As soon as the dermatologist took one look at Blake, she diagnosed him with "mastocytosis," and said that his condition was most likely uticaria pigmentosa, or related to the skin only. We had to run some blood tests to rule out internal organ or bone marrow involvement (which came back negative.) She was able to explain to me the reason behind the symptoms in a way that made sense. She told me how to care for him. She said by age two, the symptoms would almost disappear, and that he would keep getting new spots all over his body until then. She prescribed medication for him when he was 4 months old to control the histamines in his body, and also prescribed an epi-pen because there was always a risk that when he flushed, he would go into anaphylactic shock.

So until he was two, I watched him like a hawk. I ached for him every time he flushed, and began keeping a count of how many times he did each day. The numbers slowly went down from around 8 flushes a day to once or twice a week by the time he was two. We went to the dermatologist every 4 weeks until he was that age, and when he turned two, and his symptoms all but disappeared, she said we would not need to come back unless something went wrong again. She said his spots would slowly fade until he reached adolescence.

We haven't been back to see her since that time. Though there were a few scares after that in which we simply called her (she gave us her cell phone number) there was nothing to be worried about. He learned to accept his spots and every day I would tell him that the spots made him special. He's 9 years old now and the spots really have been fading. I don't think anyone in our family gives them a second thought--they are just part of his childhood, and in a few years, they will only be a memory.

It's always frightening when your child's pediatrician doesn't know what is going on with your child, and you have to be sent to a specialist. I feel so lucky that the dermatologist knew exactly what it was and could help us. I am positive that many parents don't have that experience and might go years before they know what is causing their child's symptoms.

I don't talk much about Blake, because his mastocytosis doesn't affect him at all anymore--only the spots remain, for now. I feel blessed to be his mom and to have the chance to learn more about a rare disease like mastocytosis. I've never had a chance to help another parent concerning this disease before, probably because it is so rare, but I have found wonderful Facebook groups in the last few years. Blake has never met another child with the disease. But he knows he is special because he is Blake! The disease does not define him.

If you are writing about a rare disease today, link your blog to this one! Spread more awareness!


  1. I have never heard of Mastocytosis. Thank you for sharing Blake's story. He is such a handsome young man!

    1. Thanks so much, Wendy. Glad you now know about mastocytosis! I had never heard of it before it was spoken to me, either! So many rare things out there. Thanks for reading!