Hi everyone:

I am trying to figure out if my five year old son could have Mast Cell
Activation Syndrome.  Here is our story:

We first noticed something was wrong in September when he was diagnosed with pneumonia and failure to thrive.  In addition to weight loss, his symptoms were low appetite, abdominal pain, occasional constipation, occasional diarrhea, occasional nausea and gagging associated with eating, occasional difficulty swallowing, occasional flushing in the cheeks, red hot ears (also occasional), and abdominal bloating.  We were in the middle of a move from overseas back to the US, so things were hectic and we considered that it was just the stress of the transition and maybe the temproary apt. causing environmental allergies.

I should back up and tell you that he has always been a pciky eater, refusing many foods as a toddler.  At the age of 3 he had his first (and so far, only) anaphylaxis after eating some peanuts at a picnic.  

After the pneumonia (Sept. 2011), he got a couple of sinus
infections and then strep throat.  It seemed as if he almost always had
something going on with his respiratory system.  

He was put on Omeprazole for abdominal pain and Miralax for constipation.  

The Omeprazole helped a lot.  His abdominal pain practically stopped entirely.  He was seen by an allergist and was tested positive to a bunch of foods on SPT and RAST.  

He was dx'ed with delayed gastric emptying and treated for that.

Then he was dx'ed with sleep apnea and enlarged tonsils.  His tonsils and adenoids were removed.  At the same time, they did an upper endoscopy on him to test for Eosinophilic Esophagitis.  The biopsies were negative for EOE, but positive for GERD (he had less
than 10 eosinophils at the GE Junction).
 
I had asked them to do a tryptase and hystamine level while he was under anesthesia.  GI said he will order those tests ONLY b/c he will be under anesthesia, otherwise the circumstances did not warrant a blood draw for MCAS on a 5 yr old.  Other blood tests were ordered by a rheumatologist, who he saw at the request of the ENT when I showed him pics of his red ears.  Those tests were "normal."

The bloodwork reveals a Tryptase level of 4.2, anemia, and an
elevated eosinophil count (9.3).  Histamine levels were requested but
were not done.  Instead, something called angiotensin converting
enzyme (ACE?) was done and the GI does not know what this is.
Basophils were .3 (not sure if that means anything).  ANA test was
"negative."

GI says his tryptase level is normal.  Luckily I had been reading about MCAS and also happen to live about a mile away from Dr. Castell's office.  I asked my allergist for a referral and he agreed (though admitting that he does not think MCAS is likely).  I'm still waiting on the referral.

Meanwhile, my son is doing MUCH better since recovering from his tonsillectomy.  He has so much more energy.  He looks better.  He is eating better.  His color is back.  Everyone thinks he's fine now, there is nothing more to worry about.  It must have been the tonsils and sleep apnea.

For the most part, they're right.  He looks so much better.  If I hadn't done all this research I wouldn't even be thinking MCAS.  However, he still gets a severely swollen abdomen every single day, starting in the afternoons and lasting until the next morning.  He randomly gets flushing and red hot ears.  He sometimes gets rashes (but they may be heat rashes).

The symptoms that remain are:

low weight
somewhat picky eating
extreme abdominal bloating
occasional cheek flushing
occasional red hot ear
occasional diarrhea
occasional constipation
occasional abdominal pain

He's been diagnosed with:

Failure to Thrive
Delayed Gastric Emptying (aka Gastroparesis)
Multiple food allergies - though all but the peanut allergy was refuted by 2nd allergist
Obstructive Sleep Apnea (just had his tonsils removed)
GERD

I'm curious if, after reading my son's history, you all think I should pursue MCAS as a possibility.  I think the fact that he is improving has muddied the waters significantly.  I am the only one thinking MCAS, and my son seems really happy, and that makes it really difficult to know what to do.  I don't want to put him through unnecessary medical tests/procedures/medication if he's not sick but I don't want to overlook anything that needs treatment either.  Thoughts?

Sorry to be so long-winded!

Hi Deborah!  Thanks so much for your response.  First of all, I wish you the best next week with your son's surgery.  It's not fun but hopefully it will be worth it and you will see a big difference in his symptoms soon after (as we did).  I can say that I am so glad we did it!  

As for the Zyrtec, I will try that.  I gave him Benadryl once and it seemed to clear it up within 30 minutes to an hour.  The problem is - I really wasn't watching that closely so I'm not exactly sure that the Benadryl cleared it up any faster than it usually does on its own w/o medication.  I am going to start keeping better track of it though.  Is there a reason you are suggesting Zyrtec in particular over Children's Benadryl or Claritin, etc.?  Is that what works best for people with MCAS?

Per my allergist's office, the allergist emailed Dr. C but has not heard back yet and plans to email again today.  I also called Dr. Castells office and they said she has not indicated that she plans to see my son yet (so either she hasn't read the email from the doc or hasn't decided, etc.).  

They clarified that after being contacted by my doctor, she will respond in one of three ways: 1) ask for more tests to be done if there is not enough info to determine if MCAD is a possibility (i.e. tryptase level, histamine level, bone marrow biopsy (before she even sees him, yikes!)  This is what I was thinking of when I mentioned I don't want him to get any more invasive tests.  For him even a blood test is extremely traumatic; 2) refuse to see him (I was a bit surprised to hear this - I'm assuming this will happen if she doesn't think mast cell issues are even a possibility); or 3) schedule an appt (either her office will do or it will be done through the referring doctor's office).  This made me feel much better.  If she refuses to see him, than I think I can let it go.  If not, then I know my concerns aren't over the top and it least it can be ruled in or out.  Thanks again.

Thanks again!  

Typically we adults take zyrtec or allegra (as well as Zantac for GI issues). I know that my pediatrician had told me when my kids were younger and having some problems that they could have 1/2 a zyrtec. I would call the pharmacist with his age and weight and ask what doseage zyrtec he could have if you decide to try.

There are some adults who take Claritin instead, but it seems to me the specialists recommend the others first and then in the rare case someone has problems with it, then they try Claritin.

I would recommends keeping a food/medical diary starting now. Record what he eats and how he feels every day. This will help you identify foods that bother him. Check out my Tips posts in the Start Here/Read First section of the forum.

I don't have any great insights to add to what has already been said, but just a few things to throw in, as the mother of a teenager with suspected MCAS. My son has many of the same symptoms as your son, including baseline tryptase of 4.3, except no obvious respiratory symptoms or anaphylaxis from classic allergies. My son has a fine red spotty rash that doesn't appear to itch (he does have urticaria which itches, but this seems to be different). He has it over his chest and on his arms mostly. My GP called it keratosis pillars, but a dermatologist related it to his mast cell activity. I think it responds to antihistamines, but not positive about that. Anecdotally,  Keratosis pilaris is said to be helped by a gluten- free diet. I haven't tried that with my son yet, but I am going to soon.

Your comments about the daily bloating would make me think it is something in his diet that is a staple, like gluten or dairy, so removal of these would be worth a try,for a limited time. My daughter is lactose intolerant and her symptoms match many of your sons GI ones. There are many different approaches to elimination diets, and I agree that with a child you need to be very careful about it. I have been reluctant to go too aggressively, one doctor wanted him to go off gluten, dairy and eggs for 6 months and I  just wasn't prepared to without really good reason, and this doctor didn't have the credibility for me to do that.  What I have done is tried to follow the low histamine diet and I do think it has made a significant difference. It is easier to manage, although it meant losing many of our staple meals and finding alternatives. We are not strict about it, but i think that we are keeping his bucket empty, if thatmakes sense, further from his threshold so he is less prone to triggering a reaction. Before changing anything though I would agree with Deb that you start with a thorough food and symptom diary for a couple of weeks.

Good luck with it all, its not easy when it is your child rather than your own body when it comes to understanding what is going on, but it will be worth the challenges  if you can figure this out while he is young. Envious of your proximity  to Dr Castells and a doctor happy to refer you! That will be the best way to get answers to these questions and a clear direction.

Ruth