My Diagnosis

Today was D Day and my appointment in London with Dr Seneviratne regarding my diagnosis.  As I type I am on a rickety tilting train (which is making me feel really motion sick) travelling the 300 miles home north only 7 hours after I began the journey south.  I am beyond tired, my brain is mush, my back is killing me and I have painful reflux but I also now have a diagnosis (fanfare please!):

I HAVE “PROBABLE” MAST CELL ACTIVATION DISORDER
COMPOUNDED BY HISTAMINE INTOLERANCE

Yes my friends I have the double whammy!

My DAO came back low at 7 (anything below 10 indicates histamine intolerance, with most people’s being at least 20).

My N-methylhistamine came back normal, but at the high end of normal at 140 (range is 34-177).  However, this has to be balanced with the fact I had been on a low histamine diet, and actively restricting histamine intake, for 8 months before I had the tests done in addition to taking anti-histamines.  Bearing this in mind I really shouldn’t have had a histamine level that high, and both Dr S and I are convinced that if I hadn’t been on the low histamine diet my N-methylhistamine would have been through the roof.  In a way it’s a shame I didn’t have the tests done this time last year, when my reactions were terrible and I hadn’t started the diet or any drugs.  However, the fact that it’s still high even with the diet and drugs proves to me that last year it would have been off the Richter Scale.

The diagnosis of Histamine Intolerance is absolute.

The diagnosis of MCAD is “probable” simply because the histamine tests were within the normal range, but like I said he is taking my diet into account and still giving a “probable” MCAD diagnosis based on history and symptoms.  We both agreed it is incredibly frustrating not to have access to PD2, heparin and the other tests available in the States which would have proved beyond doubt that I had MCAD.  I know Dr S is trying hard to get these tests made available through The Doctor’s Lab and for them to be available in the north of England (The Doctor’s Lab has a branch in Manchester) not just London.  It would be a huge stride forward in mast cell disease diagnosis in the UK.  I could stop the anti-histamines and the diet, wait 6 months and then have the tests repeated but I’m not desperate enough for an “absolute” MCAD diagnosis to want to start passing out again every time I eat – a “probable” is good enough for me.

It’s been a lonnnnng road.  I’ve had symptoms like flushing and dermographism since early childhood, raging drug reactions for 15 years, GERD for 10 years, and ‘allergy’ type symptoms and food reactions for 2 years.  I have been told my drug reactions were “behavioural”, or a “panic attack” or I was looked at like I was totally nuts.  I feel so grateful to finally have vindication that, no, I was in fact having an anaphylactic reaction and my body was being flooded with potentially life-threatening histamine.

My S wants to try me on Sodium Chromoglycate (a mast cell stabilizer) and see how it goes (if I can tolerate it, and it’s a big if).  Despite my DAO being very low he doesn’t advise taking DAO supplements as he doesn’t know enough about them to know if they’re either effective or safe in the long-term.  I’ve got to say I agree with him.  Just because something is a “supplement” rather than an actual drug it’s often thought that it must be safe and innocuous.  Trust me, it’s not.  I’ve had two of the worst mast cell reactions of my life to supplements I bought from a health shop, one of which was Melatonin to supposedly help me sleep.

The other thing that came out of the consultation today is that Dr S wants me to be referred to the Syncope Clinic at Newcastle run by Julia Newton.  Thankfully this is an NHS Clinic and considered one of the best in the country to diagnose and treat Dysautonomia.  I’ve had Dysautonomia for 20 years but have never had it formally evaluated simply because I know they’re going to offer me drugs I won’t be able to tolerate and, pre-mast cell diagnosis, when I refused drugs I was often told by medical professionals that I was wasting their time and obviously didn’t want to get well!  Now I’m hoping medical staff will take my drug issues a bit more seriously even if my weird reactions don’t appear in some dusty old medical textbook (I may subtlely remind them that if they are aware I have drug allergies, don’t take them into account and I have anaphylaxis, I could sue).

It’s now past midnight, I’ve just arrived home and I’m really ready for some sleep.  I go back to see Dr S in 4 months for a follow-up.  Please ignore any typos, as my last remaining brain cell gave up the ghost somewhere around Preston 😉

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17 thoughts on “My Diagnosis

  1. Judie

    Wonderful news! Isn’t it funny how b/c of this illness being so unknown we have to have a diagnosis to be taken seriously about med reactions and. Symptoms. Cromolyn sodium has done wonders for me, I hope you can tolerate it. Some here in the US start with very small doses and work up to the ordered dose from there. I was fine with half doses for 2 days then I went to full dose.
    Jady

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    1. bertieandme Post author

      Thanks for the comment Jady 🙂 It’s such a relief to finally have a diagnosis, even if it’s not the “absolute” I was looking for. Fab to hear SC has really helped you. I won’t be able to start it til the New Year as I need to see my GP to get the script filled and she’s booked up until then. With my drug reactions he told me to split the capsule and mix a bit of the contents in water then gradually work up to taking the full capsule x

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  2. E. Milo

    I’ve been told by different doctors that those tests are not reliable and don’t show anything. The last doctor did do a tryptase test and told me that diet and anti-histamines make no difference to blood tests of this type… Based on your info from your doctor, though, it sounds like I should pursue getting these tests… ugh, I never know what to think.
    I hope you’ve gotten a wonderful night’s sleep after that excursion!

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    1. bertieandme Post author

      The testing situation is still contentious Elizabeth, even between consultants. Dr Grattan in London doesn’t do any tests as he says his have never come back abnormal, yet Dr S’s patients often have abnormal results (a lady who went to see him after reading my blog had N-methylhistamine of 252 which is massively high – she was diagnosed with MCAD). I think it’s VERY important to have the tests handled correctly, which is why I was forced to travel all the way to London just to have the tests done at TDL – apparently the handling and testing procedure is crucial to getting accurate results.

      I can only go on experience as to diet affecting histamine. I was eating really high histamine foods daily (strawberries, aubergiene, cheddar cheese, tinned tuna, orange juice) and cutting these out has proved they affect histamine production as I no longer react after I eat. The circulating histamine load is bound to show up on histamine tests I would have thought.

      The big thing about testing is that the proposed WHO diagnostic criteria for MCAD states that you must have positive tests for a confirmed diagnosis :-/ Yes they also go off history and symptoms, but these must be backed up by testing (our “get out” clause in the UK, and why Dr G can diagnose without testing, is that the suggested tests aren’t available here yet). So it’s still possible in Britain to get diagnosed without testing depending on which consultant you see.

      Hope you’re awap today xx

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  3. Sherry

    Morning, well its morning here in Canada…first of all, congratulations on making that return trip and surviving! I hope you are resting – likely no choice there. Secondly, CONGRATULATIONS on the diagnosis! I am so very happy for you. Not, of course that you are sick with these horrible conditions, but because you have a sense of validation now – hopefully with this comes a better ear from doctors – and more focused symptom management. I sure as freak hope so. But beware, as you already know, there are soooooo many doctors who have no clue about Mast Cell disorders and the like – it will involve tireless forward movement on our part to educate even them. But most important is your symptom management and quality of life. I know that for me the diagnosis would lift the burden of disbelief and doubt that weighs me down, way down, emotionally. Love to you. One minute a time. 🙂 P.S. My specimen samples are on their way to the States for testing – will take months I am told. Not sure what happens to the specimens for all that time – specially when they need constant chilling. Oh well, this is where the Serenity prayer comes in handy. Oh, and by the way, so sorry you were too sick for the first appointment to get this important news and had to suffer the unfair consequences of that – its like being kicked when you’re down – would have been nice for at least a supportive head’s up on the phone but that just isn’t how it is done – its all about money, insurance, policies and inflexible procedures…remember when doctors made house calls? What?

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    1. bertieandme Post author

      Thanks so much Sherry. The validation aspect is as important to me as the actual diagnosis I think – I felt the same way when I finally got my Ehlers-Danlos diagnosis. I’m typing a summary from Dr Afrin’s 2013 MCAD paper to give to my GP and will get a copy laminated to carry around with me! I also did her a summary when I got my EDS diagnosis and I think she found it useful as she’d never had an EDS patient before. I have already drafted a letter to the Immunologist I first saw here in the north of England who told me I was just having a panic attack, and am sending a copy to the Neurologist at the same hospital who was so nasty with me she made me cry. These people need educating, esp the Immunologist who I know has seen other MCAD patients and just dismissed them.

      Good luck with your samples – sounds like it’s even harder in Canada to get diagnosed than here 😦 xx

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  4. moxyjen

    I’m wondering if you have any advise if I suspect I may have a mast cell or histamine intolerance. I got diagnosed with POTS last year, which is not very helpful. I got myself from totally disabled to working and functioning by eliminating grains and sugar. Now I’m on the GAPS diet, but I still get sick, and it’s very often right after eating. Thanks for sharing your story!

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        1. bertieandme Post author

          In that case you need to do some research into finding a knowledgeable doctor in your area. There are some excellent mast cell specialists in America but you may have to travel to see them (although some do email or phone appts and offer advice to your local care physicians).
          You can ask on the Mast Cell Disorders forum at http://www.mastcelldisorders.wallack.us/yabb/YaBB.pl
          Or join the Rare Diseases section of the Inspire Forum and do a search for “mast cell”
          https://www.inspire.com/groups/rare-disease-and-genetic-conditions/

          Hopefully some of these guys can help as I’m in the UK and not familiar with American doctors or diagnostic protocols.

          Jak x

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  5. Becks

    Hello! I recently discovered I am allergic to dairy, and intolerant to gluten, yeast, and eggs. I’ve managed to cut out all of these things completely, but I am still dealing with symptoms that are/or mimic histamine intolerance. I’ve also been on my fair share of antibiotics for the last year, and that is really when things started getting worse. I’m afraid my gut flora is completely wrecked, and I’ve started taking probiotics to try to heal it somehow. I just don’t know what to do. Could it be that my body is still trying to get rid of toxins and excess histamine, and still healing? Or should I try to look into a low-histamine diet? I am just so confused, and noticed my symptoms got worse when I caught a virus the other week. I lay awake in bed all night, and the next couple of days felt shaky, almost like my adrenaline went haywire. I feel nervous, and it”s not like me. I also feel allergic to everything around me, I can feel my sinuses swelling just by walking into a hot, dry room. I tend to get really warm as well, especially in my face. The doctors cannot seem to find anything wrong with my health, except for frequent sinus infections (that I now think might be part of my dairy allergy). I itch day and night, and have developed a rash on my whole upper body. I feel depressed and helpless. If anyone has got any advice I would REALLY appreciate it! The health system here in Norway do not seem too well acquainted with illnesses related to diet…

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    1. bertieandme Post author

      Hi Becks

      I’m so sorry to hear you are suffering and totally understand your despair when doctors can’t find the source of the problem. I have no medical qualifications and feel it would be irresponsible to try and say what the problem is myself, but do think you need some further help. Unfortunately I know nothing about the health care system in Norway or know of any mast cell specialists there 😦 However, there is a Mastocytosis support group and they might be able to point you in the right direction, their website is http://www.mastocytose.no/

      There wouldn’t be any harm in trying a low histamine diet for a few months, although in the long term I’m concerned you’re already cutting out dairy, eggs and gluten and with a low histamine diet too (which cuts out lots of foods) I think you need some guidance from a dietician just to make sure you are getting enough protein, iron, vitamins and minerals. You could also try the H1/H2 antihistamine combination if you haven’t already – both are available without prescription here in the UK, I’m not sure about Norway. You could also try supplementing with Vitamin C (a none citrus brand such as Ester C) which helps stabilize mast cells.

      I think the Norweigian Mastocytosis society should be your first port of call though as they should know which doctors to refer you to.

      Jak x

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      1. Becks

        Thank you so much for your reply! I’ve contacted the support group, bought the supplements and am going to try and get in touch with a dietitian. 🙂

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  6. Aaron

    Hi bertieandme, I’m from Bolton near Manchester and I think I may have this problem. How do I approach my GP with this and ask to be referred to the right specialist?

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    1. Jak Post author

      Hi Aaron

      Sorry to hear you can relate to my health problems. By “this problem” do you mean Ehlers-Danlos syndrome or Mast Cell Disease or both? Obviously specialists are very different for each disease.

      Have you already seen this page on my blog? https://mastcellblog.wordpress.com/guides/primer/

      You might also like to check out Masto UK’s website http://ukmasto.org/about-mcd/mast-cell-activation-syndrome-mcas/ and Mast Cell Action’s website https://www.mastcellaction.org/about-mcas

      If your GP needs info on EDS or MCAS you can refer him/her to this page on the Royal College of GPs website http://www.rcgp.org.uk/clinical-and-research/resources/toolkits/ehlers-danlos-syndromes-toolkit.aspx It’s primarily about Ehlers-Danlos but does have a section on MCAS.

      There is an NHS lab in Sheffield now doing blood and urine tests for mast cell activation syndrome but handling the specimens is crucial – some have to be kept chilled *at all times*, so your GP would need to make sure any collection and storage of your samples was done correctly.

      Hope this gets you started.

      Jak

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