WHEN YOUR CHILD IS DIAGNOSED WITH A RARE DISEASE

My sweet baby Simon isn’t perfect. His skin isn’t beautify unblemished baby skin, because he has a rare disease that marks his body with spots. They are mostly on his back and trunk, but some are on other parts of his body. Simon’s spots are caused by an excessive number of mast cells that produce hives or legions on the skin when irritated. It’s called Urticaria Pigmentosa (UP) a form of cutaneous mastocytosis. UP affects less than 200,000 people in the United States. One of them is my baby.

Left: Simon at 6 months. The first spot was the big one in the middle that kind of looks like Vermont. The dark spot on the left is where they carved out his skin to test it (biopsy was pretty horrifying for me). Middle: Simon at 18 months. Right: a mild example of the way the spots “react.” This was possibly because he took a bath that was a little too warm (or maybe cold), or a reaction to something he ate, or maybe his clothes were irritating him.

What does he have in words that people understand? He has more than a 100 spots on his body. For Simon, these look a little bit like large freckles or age spots. These spots are extra mast cells. Mast cells are a type of blood cell made in the bone marrow. When people have an allergic reaction mast cells produce histamine. To counteract the reaction, they typically take an anti-histamine. In an extremely simplified way, if something is an irritant for Simon, he will have a reaction and because he has too many histamine making cells, he may have a really bad reaction.

We learned a lot along the way about having a baby with a rare disease. I hope you never have to learn any of these lessons, but just in case, here are my suggestions:

Trust yourself, especially when it comes to your baby.
Simon was 3 or 4 months old when I found the first spot on his back. I wasn’t sure if it was a bruise or a birthmark. I wasn’t too concerned (I have four boys, not much phases me) but I brought it up to our pediatrician. To make a long story short, I’m really glad I didn’t just ignore it. Thankfully, our amazing doctor had heard of this rare disease and sent us to a dermatologist.

Find a specialist – one that has experience with the disease.
The first dermatologist we went to had never seen someone with mastocytosis or urticaria pigmentosa except in a book. Honestly, she completely “geeked out” when we showed her Simon’s spots. Then, (I’m guessing here), she left the room and googled it, possibly in a special doctor google forum.

When she came back with pages of warnings and explained a little bit about the disease, she scared us to death with precautions: Simon can have a reaction to a lot of things. If he has a reaction, it can be really severe. If this happens, make sure to pay attention especially to his breathing and if it sounds labored, take him to the hospital immediately. He could go into anaphylactic shock.

What kinds of things might cause this? If he’s too warm, if he’s too cold, foods (pretty much any food except meat), medicines, lotions, alcohol, chocolate, friction. The list went on and on and included a ton of the normal things our baby would likely experience in a single day. Basically, he could die from life.

When we got a referral to the pediatric dermatologist in Iowa City it was a different story. She had most definitely seen this before. She suggested a much less robust list, advising us to stay away from spicy foods, extreme temperatures (like polar plunges – because that was on our list for our 6-month-old?) and certain medications like ibuprofen. Different things might trigger Simon to have a reaction, but the likely list was significantly narrowed to our great relief.

Find a friend that will listen to the details. No one wants to hear about all the intricacies of UP. They will politely nod and make nice sounds but their eyes are glazing over because knowing the research about genetics, possibly side effects and long-term ramifications just doesn’t pertain to them.

I have a great friend who does care, at least enough to listen and sort of remember what was said the last time I rambled on. But then, I listen to her tell me about her daughter’s disease, so we’re able to commiserate and give back to each other. 

Don’t Google it.  If you do, the answer is almost always death or at least cancer.
“Mastocytosis describes a group of disorders [including UP] that are caused by too many mast cells. The number in the body can increase as a result of some non-cancerous conditions. However, certain types of cancers begin when healthy mast cells change and grow out of control” (cancer.net). MY KID HAS CANCER or is going to get cancer! Google almost always = cancer.

Okay, let’s be real, of course, you’re going to Google it, but please please don’t freak out. Find someone that actually knows what’s up before letting WebMD or cancer.net (why was I even looking on that site?!) terrify you.

Find the Facebook group/s. Only those that have experience with UP or Mastocytosis really get what it is. So, there’s this amazing community of knowledgeable, helpful people willing to share all they know. It’s incredibly valuable and supportive. Some people are crazy strict, some are alarmists, but most are super helpful and kind. All of them love their kids.

I’ve connected with UP parents from all over the world. I posted pictures of my son (who, thankfully, has a mild case of UP) and others with mild cases were able to reassure me in a way no doctor probably could. People also offered helpful advice like, get an epipen. It might just be for your peace of mind, but it’s worth it because it could save your kid’s life. Last week there was a conversation about oral surgery and whether the anesthesia impacts UP kids in a different way. Okay, good to know…

Learn about the disease. I did research, I combed old posts in the Facebook group, I created lists of questions for our specialist. I learned the difference between systemic and cutaneous, multiple spots or a singular large spot, and on and on. I learned about precautions and the likelihood he will out grow it (please God, please) by middle school age. I learned that we are lucky. Most families are dealing with much more severe cases than Simon has. 

Decide what to tell people. Rare diseases are often hard to explain and certainly not something most have ever heard of. But all the details can be overkill. We had to decide what all to say.

Urticaria Pigmentosa often looks a little like measles so in this age of anti-vaxing, I’m pretty careful to say right off the bat that UP isn’t contagious. Then, I explain that our child is turning into a cheetah.

I try to keep it simple. Some people in the Facebook group carry a card with info on what the disease is to give to those who ask. I’m not really sure I’m there, but I can see why.

Allow yourself to grieve. My baby has something wrong and I can’t fix it. We’ve been very blessed with healthy boys. There hasn’t been much that wasn’t fixed by an icy pack, amoxicillin and/or some hugs. But…I can’t undo this, I can’t research enough to make it go away. I can’t pay enough to get it taken care of. It might cause him pain and I. can’t. do. anything. So, I cry.

When I read that lots of kids with UP are made fun of because they have spots on their skin, my mama bear instinct is unleashed. I considered teaching my older boys the best way to beat the crap out of anyone that makes fun of Simon (I’m not totally over this). I dream up all the awful ways someone might hurt his feelings and I cry some more. 

Our other boys run around naked a lot, or at least with their shirts off. But I’m pretty careful to make sure Simon’s shirt is on when we aren’t at home, especially when we are swimming. I just don’t want it to matter. One afternoon our neighbors were over playing and the mom asked if he’d had the allergy tests on his back. He just doesn’t look normal.

I was switching clothes for the season and wondering if I will put him in tank tops. He’s starting to get more spots on his shoulders. Is it worth exposing him to the potential questions? Why do I care what anyone else thinks? And I’m grieving that I even give it a second thought.

Laugh a bit…and hold on tight.
Do you remember potential triggers for UP are alcohol and chocolate? Imagine staying away from not one but both of those. I mean, what’s the point?

Our family is constantly on the lookout for spotted animals. We’re try to make sure we talk about how cool they are. Cheetah, giraffe, spotted owl…

We are lucky that Simon’s rare disease (at least so far) has been mild. His spots remind us to realize how truly lucky we are. They also remind us to hold on tight to those we love, especially this last sweet baby.

 

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3 Responses to WHEN YOUR CHILD IS DIAGNOSED WITH A RARE DISEASE

  1. Rachel March 1, 2018 at 10:06 am #

    Nice job helping us learn more about something most have likely never heard of. You are a great mom, even in dealing with life’s extra challenges. Simon is (and all your boys are) lucky to have you.

  2. Kate {of} dirt+heels March 7, 2018 at 8:59 pm #

    I am so grateful for this post, Meghan! As a mom of a baby girl just about Simon’s age who was born with cystic fibrosis. Your words certainly apply to so much in my home, and while so difficult, I also think that permission to grieve our own expectations is so important. Hugs from one mama to another – Simon {and all of your boys!!} is so blessed to have ou.

    • meghancooley
      meghancooley March 9, 2018 at 10:31 am #

      Aw. It’s nice to hear of other moms out there that deal with even more than #allthethings. Cystic fibrosis is so tough. You are the real hero. Good luck!

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