Mastocytosis

I've been putting off this post because I'm not sure how to start it and, it's so new to us that I'm not even sure where it will go. Our son has been unofficially diagnosed with Mastocytosis.

What is Mastocytosis? Mastocytosis (pronounced "mass-toe-sigh-toe-sis") is the abnormal growth of mast cells in the body (usually the skin). Mast cells are part of the immune system. The most common form of mastocytosis is when mast cells accumulate on the skin, causing reddish brown spots or bumps. In rare cases, mastocytosis can affect other parts of the body, such as the stomach, the intestines and the bone marrow. This disease is considered an 'orphan disease' because it's causes are unknown and it's believed to effect less than 200,000 individuals. It is typically pretty harmless, and in kids it is almost always completely gone by the time they hit puberty. Symptoms can include spots like a rash or hives, diarrhea, and stomach pains.

We believe Rohan has what is known at Solitary Mastocytosis, which simply means that instead of many little spots on his body, he has one rather large one. When I took him in for his 1 month appointment on Friday, the Peditrician noticed it and asked me how long it had been there. I told her "Since birth. We assumed it's a birth mark." She looked closer, shook her head, and told me she thought it was a skin issue called Mastocytosis and that it would resolve itself over time. She gave me a print out about it, and we left. I didn't think much of it, except to mention it in passing to Darrick, who looked it up online 3 days later.

Here you can see what the spot looked like at birth:



Bad idea, Googling health issues. Just FYI.

The pictures, the stories, the information...all of it terrified us. We read accounts of kids who were covered head to toe with spots. Kids who itched and itched and scratched and bled and scarred. Kids who needed to carry an epi pen at all times in case they had a reaction severe enough to cause their airways to swell. Kids who can't be in the sun or the heat, can't eat a whole litany of foods, have IEPs because they can't focus while in class during a rash episode, are made fun of by their peers, deal with severe pain and cramping...the list goes on and on. I kept imagining my poor sweet beautiful boy covered in rashes, sheltered from the sun and heat (In Arizona??? HOW?!?!?), having to avoid all kinds of foods like bananas and strawberries, and unable to take aspirin. It was overwhelming and I just wanted to curl up in a corner, in denial, and cry.

Monday, for only the second time in his short life, Rohan spit up. Twice. A lot of spit up. I didn't think much of it. When he woke for his middle-of-the-night feeding, I noticed that his spot seemed to be kind of puffy, but it was late and the room was dimly lit, so I just fed him and went back to bed.

By Tuesday morning, his 'spot' was now a blister.

By Tuesday evening, his blister had oozed out some fluid and started to heal over.

For the rest of the week, the process repeated itself, and he seemed to be bothered more and more by gas issues. He's become more of a fussy baby, and we've resorted to giving him Gripe Water (another mommy must-have!) and Mylicon in alternating doses to help him deal. We also lie him on his belly to nap when we can watch him, since it seems to help force some of the gas out.

This is what it looked like on Thursday:



**EDITED TO ADD on 6/11/09: Since this post was written, we stepped AWAY from Google and got Rohan into a pediatric dermatologist versed in treating Masto (works for Phoenix Children's Hospital, which is highly respected and known for being an excellent facility for children). He's now being treated with a topical steroid cream and oral antihistamine. THANK YOU to the people who contacted me and urged me to seek out a Dr who could work with us to treat him!!! And to the people affected by Masto themselves, who have helped to assure me that he CAN get help and lead a relatively normal life.**

We don't have a firm diagnosis, and the main reason we don't is because the only way to get one is to do a skin biopsy. BUT, all the signs are there that it is Mastocytosis. It seems to be fitting all the descriptions, down to the story I read online of the woman whose son has Masto and who, during pregnancy, noticed her skin's pH changing. This happened to me: a few months into my pregnancy, the skin under my wedding rings turned red and started to peel and itch, feeling a bit like a chemical burn. All the signs are there that he has Masto, but even if we do get it confirmed, there is NO treaatment and NO cure for it.

That's right: there is essentially nothing we can do for him, other than try to help him avoid 'triggers' (such as heat, the sun, certain foods...it'll be a complete guessing game figuring out what his triggers are as they are different for each kid) and give him antihistamines when he's older if he itches too much. There is no medicine to treat it. There is no therapy, no lotion, no soap. The only cure is time.

So, of course we are worried and anxious and trying to just hope for the best while preparing for the worst. If we are really lucky, Rohan's one spot will stay solitary and not spread, he won't have very many 'triggers', and he won't have much pain and itching. And, of course, as vain as it sounds I worry about other kids making fun of him and his having to face that for several years. Basically, I worry about the uncomfortable and the unknown. All we can do is keep an eye on it, help him be as comfortable as possible, and hope it doesn't spread or get worse. If we're very lucky, his one spot will be the only one he gets, and we'll just have to deal with that and with keeping the belly pains and other symptoms at bay.