I have been lurking around this forum for a couple of months now, asking occasional questions, and posted a bit of an intro on the old forum, but thought it was time for a summary here.  It’s really hard to condense a story into a potted version; when you deal with an unusual, unfathomable medical picture there are so many details that might be relevant. And to complicate it further I have my own history of allergies but in recent years seem to have some GI episodes that also have me wondering. However for now I will start with my son who is 14 years old and has been battling various symptoms for many years. He keeps his head above water generally and has learnt to just put up with a lot, not so unwell that he misses a lot of school or has severe episodes interfering with his life, at the moment, however I do see that his health is not what it should be, and whatever is going on is impacting on him every day. He also puts up with a lot at school, and then comes home and crashes, he hates drawing attention to himself or letting on to anyone how he is feeling.  I also worry about how this might progress in future, and would like to be prepared to deal with an escalation if that happens. No one aspect is severe enough, or treatable enough, to warrant much attention from any one doctor to look seriously at his problems, especially when he doesn’t fit their neat categories, and in isolation many of his problems can be dismissed or trivialised, and treated symptomatically, but never quite getting to the bottom of it.

As a baby Cameron had skin problems (severe nappy rash, cradle cap, rashes and flushing) and was an unsettled baby who never slept well.  When he was 2 years old, around the same time that he was treated for giardia, he developed eczema (in elbow creases and back of knees), urticaria and angioedema (face and neck).  Through childhood he always had sensitive skin, occasional rashes and reactions to things like sunscreens and skin creams, bandaids, and insect bites.

When he was 11 years old he had several major episodes of urticaria and angiodema. He was prescribed cortisone, and zyrtec.  Blood tests were negative to common allergens, but IgE was elevated (2687).  He was referred to a Dermatologist who carried out skin prick and patch tests, and prescribed Zaditen.  Patch tests showed mild positive reaction to Peru Balsam, wool alcohol, and sorbitan esters, and she noticed that he has dermographism, but she felt these results did not explain the severity of his reactions, and referred him on to an Immunologist in March 2008. Full blood tests were performed, looking for markers for autoimmunity and testing for various other things including tryptase.  Cameron was well at the time of these tests and had no obvious symptoms. His IgE was 1690, but nothing else remarkable showed up.  Since then blood tests have shown similar IgE levels, but nothing much else except ongoing borderline anaemia.   He had been experiencing regular headaches, which gradually became more frequent and severe.

In 2009, following another international move, his symptoms returned with a vengeance, particularly migraine and hives/urticaria/angioedema.  He was referred to a  Neurologist and an Immunologist.  An MRI showed nothing and the neurologist had nothing to offer. The Immunologist concluded ‘not allergies’ (because he hasn’t tested positive to any of the common allergens), but had no other advice or direction.  Recently he saw a  Dermatologist, who,  based on previous test results, ruled out Mastocytosis and concluded that it is Atopy (in contradiction to the immunologists ‘not allergy’ conclusion), and that the range of symptoms could all be linked and have mast cell involvement. He summarised it as Atopy and Chronic Urticaria. In fact the mechanism he suggested was basically ‘mast cells behaving badly’, but when I tried to pursue the idea of a MCAD he would not discuss it, I suspect because he doesn’t know about it, and wouldn’t even let me finish my question. He did agree that a trial of regular antihistamines would be a good idea.  I am still trying to figure out how critical the difference is between his label versus a MCAD diagnosis.

Alongside the consultations and tests over the last 4 years I have been reading and observing, trying to figure out what is going on, keeping food diaries, etc.  Because of his IgE levels we had been very focussed on looking for classic allergies and never finding anything, but in the past 6 months I have shifted my approach, trying to get past that mentality to a new understanding of intolerances and sensitivities, looking for triggers rather than allergens.  I have tried to take a low-chemical approach, following guidelines put out by the allergy department of a Sydney hospital, which avoids salicylates, amines and glutamates, as well as food colourings and preservatives, and trying to eliminate known environmental irritants in washing powders, household products, etc. I haven’t done this strictly, but more recently I have concentrated on the low histamine aspect, as well as the additives.  He does seem to have been better lately, but there are so many other factors to consider. The things I suspect are his most obvious triggers include high histamine foods like tomatoes, strawberries and oranges, food colourings and maybe preservatives, heat, exercise, infections, stress, cold.

Here is a summary of his symptoms over the years, all of which still occur either constantly or intermittently :
Skin : Urticaria, hives,  angiodema, eczema; flushing (ears regularly, face when he exercises, even swimming in unheated pool); fine red spotty rash (arms, torso);  dermographism; local reaction to insect bites, sunscreen, bandaids, skincare products, cold; severe bruising; prone to tinnea, dandruff, inflamed scalp, inflamed gums
Neurological :   Constant mild headache; Moderate headache in response to strong odours, bright light or change in light condition, change in temperature, exercise, dehydration, car and bus travel; Migraine, with aura
GI :  Bouts of nausea when starting to eat, sometimes leading to vomiting; Nausea and headache when travelling
Misc. :  Fatigue; sleep problems; episodic joint pain, chest pain, leg cramps, bloodshot eyes, dry eyes
Fainted once, but often feels faint when exercising
Headaches and rashes appear to have improved with low histamine/low additive diet
Responds well to antihistamines, Zaditen and cortisone
Appears to flare after infections like tinnea, viruses

What I have learnt about mast cells and histamine lately, mostly through this forum (for which I am SO grateful) has helped my understanding significantly and so many things seem to fit when I look at his history and patterns through a MCAD lens.  I have a very supportive, encouraging family doctor who is right behind me in pursuing this, but is yet to be really proactive herself, apart from referring me on to specialists, and she admits that she knows nothing about mast cell disorders. I am now feeling like we are on the right track, but I need to be patient and wait until she has a little more knowledge (I am starting to feed her articles and information) so that we can get further towards a definite diagnosis.  On one hand I am coming to accept that we are making slow progress towards a likely explanation for his symptoms, on the other hand I am so impatient wanting that definitive diagnosis that would give me more confidence to make informed decisions that will help him lead the healthiest life he can.  Lisa has been able to identify a specialist here that will be our next hope, but I want to go to him well prepared to make the most of it – able to show him an accurate picture of Cameron’s status and history that allows him to see clearly what is going on.  In the absence of definitive indicators of MCAD, he does seem to have a collection of symptoms that would suggest this is likely – I would be interested in any opinions or observations that would help me clarify that.    

Given what I am coming to understand about this, with triggers being so inconsistent and hard to pin down, I am thinking that we might need to focus more on him understanding the signs that he is having a reaction. The itching and migraine are unmistakeable, and our challenge is to head them off before they escalate, but his immediate reactions to exercise, if they are mast cell related, we don’t understand yet at all well -  how to distinguish between the ‘normal’ effects of exercise and what might be a sign that he is in fact having a reaction. He doesn’t ever make excuses to get out of doing anything, PE classes included,  he prefers to suffer with symptoms that concern me, like feeling faint, and I’m not sure how to approach this, without a clear diagnosis to work with in this context. I don't want to be alarmist about it and make too much of this at school, but I also don't want to wait to find out the hard way (with a major episode in a PE class) that he is actually bordering on something more serious than the doctors have recognised – I would be grateful for any advice about this.  

Thanks for your reply Sandi, and for the encouragement. It is so helpful to get feedback from people here who understand this to verify that I am on the right track, goodness knows I'm not getting much of that from the medical profession yet.  

His MRI was clear, and his headaches have generally settled down, he did start having aura recently, but hasn't crashed with a full-blown migraine in a while. His daily mild headache is the same though. I do think the measures we are taking with diet and antihistamines are helping, and it has been cooler lately, but I still feel like we have a long way to go to even a tentative diagnosis.  The inconsistency of triggers makes it so hard, and yet it is precisely why I think  MCAD fits, and explains his pattern where atopy or allergies don't. Now that I am thinking in terms of triggers I am working on the environmental things like dust mite, molds etc (which he tested negative for on allergy testing, so I hadn't been too vigilant about them before). We are in a fairly clean new apartment, but the one thing we are stuck with is aircon, and mold in parts of the units that can't be reached, not sure what I can do about that.

The exercise trigger is my biggest concern at the moment, I would really like to find a way to figure out whether he is showing definite signs of a reaction. He had another bad session today, close to fainting again, doing track and field outside in the sun. It seems he felt worst at the end of the session, not while he was actually running the 1500 or the 200 sprint, but after some field events at the end of it all. I am going to make a time to talk to his PE teacher and see what we can do to try to understand what's going on, maybe look at monitoring his BP and HR.  Anything else that would be red flags for a degranulation mechanism?

Hi Josie,

Cam is somewhat stable at the moment, but the ongoing daily symptoms are there as always. He is also talking more about things like the dizziness, which it seems he has experienced a lot, to a milder degree, so I am keeping an eye on that one - blood pressure, postural hypotension?  He almost passed out while having treatment for warts recently, extremely painful, but usually he is pretty stoic about pain.  He is doing better at the moment generally, taking zantac and zyrtec daily now, and getting better about the low histamine diet and keeping a diary more consistently.  We are seeing  the GP next week for follow up treatment for his warts so I am going to discuss the dizziness which is more ongoing than I had realised, not just the near-fainting episodes.  Another one of those things, Cameron thought it  was normal to feel dizzy every time you get out of bed, bend down to pick something up from the floor, stand for any length of time, etc.  We have just seen a podiatrist who is making orthotics for him, as he is borderline severe for overpronation. This may help his tolerance for exercise, standing etc.  I also need to have his spine checked again, as his doctor questioned scoliosis a while back, need to follow up that one too. Anyone see a pattern emerging here with these other bits and pieces of symptoms?

Mastocytosis was ruled out because of his tryptase which was 4, but it was tested when he wasn't symptomatic, about 4 years ago. At this time I had no clue about any of this, thought we were still looking for classic allergies, and the immunlogist didn't speak English well (or he was just a typical specialist who doesn't tell you much unless you ask), so I didn't really discuss at length what else he was looking for with him then. Now I would have million questions for him, with all that I have learnt since.  Recently the new dermatologist also dismissed masto for the same reason, and would not entertain any discussion about anything else, so I won't be seeing him again.  I would like to see what a 24-hr urine test would show us, that's probably the next of the tests we should eb asking for.

Thanks for asking Josie, grateful for any suggestions.

Hi Ruth, I was just wondering how your son was doing, I really hate the masto discount with tryptase level sooooo old mindset But typical!

I've been suffering from dizziness pretty chronically lately, I'm starting to suspect allegra, it is a warning/side effect, theres nothing I can do about it if it is so, I tolerate very little so far as far as meds go, I have a history of adrenal insuffeciency, low potassium, low bp, also hypoglycemia so I'm familiar with dizziness in all of those areas, upon quick standing, hunger etc. This dizziness of late is very frustrating, it may be vascular related I'm having some eye issues too. Hopefully your son can start to be aware of the causes of onset to how he is feeling. Stay fed at regular intervals for blood sugar, and for low bp, no quick moves from a low area to walking, just take your time upon standing etc and it's just a way of life you don't think about. Again I'm really hoping allegra isn't a culprit, If so I will choose not to discontinue it and just adjust my lifestyle.  Possilby look into side effects of his current meds and possibly it is one of those.

Thanks for all the suggestions ladies.  It all helps me figure out what I should be looking for and asking my doctor about next.

Joan we aren't in the US, we live in a tropical climate with low pollens generally. He has never shown signs of seasonal allergies, or any upper respiratory symptoms. There has been a lot of rain lately and it's time for our aircon clean and service, so I do wonder about molds with him, moreso than pollens.

Sandi I do think there is a lot in the factors you ran through, low blood suger, as he eats a bit inconsistently and doesn't like to eat in the mornings, hydration is also an ongoing concern so it may be about blood volume.  I do think we need to look more at his vascular system. He has only been on current meds for a short time yet the dizziness and other things have been present it seems chronically.  He just deals with things as you have said, adjusts how he does things, and assumes it's normal to feel that way.  Getting him to think about triggers and connections is tricky, his coping mechanism for all these things is to distract himself and try not to focus on them, and it seems well-learnt. But we're working on it.  He also works very hard at not drwaing attention tohimslef, so recording things through the school day, like during a PE class, is not likely to go down well at this point.

Josie he also has the fine red spotty rash all over his abdomen, chest, back and upper arms, a little worse again at the moment I think, but it doesn't seem to itch like the urticaria and angioedema. It's just there.  I will have the GP take a look at it next week, add it to the list.  Apart from that his skin has been better lately.  

Yes, that tryptase thing is frustrating, especially with what some people are now saying about the idea that over 1 is actually not entirely normal and my indicate something.  it seems that if you are already battling to get a doctor to recognise something like MCAD then getting them to accept that is even less likely, as the traditional understanding is a much higher elevation and quite clearcut.  That 'normal' tryptase is what they rely so heavily on and don't want to loook any further in the masto direction.  

Thanks again for your ideas, I'll let you know how the next dr's appointment goes.

Ruth

Thanks Josie. I think I have the proposed diagnostic criteria, Lisa sent some articles to me a hile back, I have the one from December.  I gave it to my doctor, I don't think she has even read it.  I will see a different GP at the same clinic, he reviewed the last blood tests over the phone with me as my doctor was away, I was impressed with his approach then, but he didn't know much of the history and there was nothing immediate to deal with. I'll see how we get on next week with him.

Good luck with your next appointments, I really hope there is some progress in the way of tests and results for you.

Ruth

Sandi, what a WILD idea!!  Putting antihistmines directly into your ear canal!!!   BUT IT ONLY MAKES SENSE!!   What if you go and use the Ketotifen eye drops in your ear canal???!!!   THIS would be even better since it's a MC stabilizer!!!!

I'M IN LOVE WITH THIS IDEA!!!  YES!  IT'S BRILLIANT!!   It's like putting the cromulyn in the body lotion to help reduce the itching and antihistamines in lotions too!!   But for those of us who CAN'T find these remedies, THIS MAKES PERFECT SENSE!!    

Ruth, you can get Ketotifen in liquid form can't you?  What about the Ketotifen eye drops?   These may indeed help and why not put it into a nasal spray too???? GOSH!!!!  

Lisa, I didn't think Sandi was saying to put something directly into the ear canal, but I see how that could be what she meant.

Sandi, did you mean orally?

Yes, I agree with Josie.  I would be sure to check with an ENT before putting anything into the ear canal.  There could be other things in the meds that could harm or scar the ear drum.

Nasal sprays and oral antihistamines are what my ENT recommended.  It didn't help the tinnitus, but my ears feel less clogged.