Test results

I’m often asked about various tests I’ve had done over the years, so I thought it would be a good idea to list them all in one post.  It’s been 21 years since I first became really sick and in the early days I didn’t keep records – after all, I was going to be better in a year or two (!) – so this is by no means an exhaustive list of all the tests I’ve ever had done, but at least you’ll get the gist.  I’ve stated the year each test was carried out and imagine if some of the tests were repeated today the outcome might be very different!

Mast Cell Disease (all tests carried out in 2013)

  • Tryptase: 4 (normal range 0-20).
  • Methyl Histamine/Creatinine ratio:  140 (normal range 34-177).  However, at the time I’d been on a low histamine diet for 8 months and was also taking daily H2 antihistamines.  Without these my histamine would have been sky high, which is why Dr S still thought it “probable” I had MCAD.
  • Histamine Releasing Urticaria: negative.  Strange as my butt was covered in hives when I had the test done!
  • DAO: 7.2 (anything below 10 indicates Histamine Intolerance).
  • Total IgE: 4 (normal levels 0-75).  This measures allergic responses in the body, rather than a specific allergic reaction.
  • Skin prick allergy testing: positive for Birch pollen and mildly positive for dog.

Ehlers-Danlos (all tests carried out in 2011)

  • Beighton Score: 8/9.
  • MRI scan of lower spine: mild early osteoarthritis.  Mild scoliosis.  Previous Laminectomy surgery for congenital spinal stenosis (I was born with narrow spinal vertebrae which we now know is EDS related).
  • DEXA bone density scan: normal.
  • Heart scan for Mitral Valve Prolapse: negative.  However I do have a mild heart murmur.

EDS Gastrointestinal

  • Bowel transit study using Sitz markers 2009: normal (which means I didn’t have Gastroparesis then, not so sure about now!).
  • Faecal calprotein 2009: 10 ug/g (this stool test measures inflammation in the intestines, anything less than 60 ug/g is normal.  Again, it would be interesting to see what this test showed now).
  • MRI scan of belly 2013: normal.
  • Endoscopy 2013: positve for over a dozen benign polyps.  Negative for H-pylori, Ulcers & Coeliac Disease.
  • Physical exam by Rheumatologist in 2015 showed only 10% movement in my right hip and 30% movement in my left hip.

M.E.

  • EEG 1994: normal (this measures brain wave patterns).
  • ECG First one 1994, last one 2008: normal (this measures heart rate patterns).
  • Every blood test known to man: all normal, always!
  • Hormone levels First checked 1994, last checked 2014: normal.
  • Mycoplasma 2001: negative.
  • Chlamydia pneumonae 2001: negative.
  • Nerve conduction test 2014: normal (which rules out Peripheral Neuropathy).
  • Lyme Disease test 2013: normal (we have a specialist Lyme testing Lab where I live as Lyme is endemic in the Lake District).
  • Sleep study 2013: showed very poor sleep, but I don’t have the details.  No apnea.
  • Standing POTS test 2014: normal (!).

Other

  • 24 hour heart and blood pressure: normal (???!!!)
  • Cholesterol 2013: LDL 4.6., HDL 1.5., Total cholesterol 3.5 (anything below 5 is normal).
  • CT scan of sinuses 2006: inflamed but nothing abnormal found.
  • MRI scan of neck and head 1996: normal.
  • Chest x-rays, several: all normal.
  • Ovarian scan 2005: normal apart from a 2cm cyst, which was thought to be cyclical
  • Pelvic MRI scan in 2016: showed recto-vaginal endometriosis & adenomyosis.  Also confirmed exterior (penunculated) uterine fibroids and polysistic ovaries.

I’m probably one of the sickest ‘normal’ people you’re ever going to meet, which has been half the battle in trying to get my illnesses diagnosed and treated.  I suppose you can’t blame Doctors for thinking I’m a hypochondriac or some kind of nut case when all their tests point towards nothing being wrong.  Of course, they weren’t testing for the right things and when I was tested for the right things they showed up like neon lights – the validation was life altering.

There are several tests I’d still like to have done but probably never will.  I’d like some genetic testing.  I’d like a skin exam by a Dermatologist clued up on Mastocytosis.  I’d like an upright MRI scan of my neck and spine.  I’d like a stomach biopsy for mast cells.  And I’d like further blood and urine mast cell tests done, particularly at a time like now when I’m so reactive.  However, I can’t afford the mast cell tests and they’re not available on the NHS.  My GP is unlikely to refer me for gene, skin tests or another MRI scan as she won’t be able to see the benefit, but the way things are going with my GERD I might just get another endoscopy when I can ask them to stain for stomach mast cells and test for Eosinophilic Esophagitis.

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20 thoughts on “Test results

    1. bertieandme Post author

      Thanks Donna but I’m totally drug allergic and won’t be having any sedation (and didn’t last time I had an endoscopy). I don’t take drugs of any kind now due to my MCAD. Jak x

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  1. glo

    I haven’t had as many tests but all mine came back normal except for a slightly elevated tryptase. Definitely a frustrating thing to go through. Glad you are feeling well enough to write again.

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  2. Traci

    Wow, I could have written this. Our journey is so similar including the years testing was done, our symptoms, the tests, and the results. And the testing I would still like to have done.

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  3. LivvySheep

    Hi Jak
    I have not wrote for some time but have just been able to catch up on your last 4 blog posts. This one made me laugh! Probably shouldn’t do but I can get away with it (i hope) because I’m in the complex, rare, and largely ignored chronic illness boat like you and the decades of ‘normal’ test results, is like the doctor slapping you in the face with a wet fish and sticking his fingers up at you every time… and you crawl back under your rock to find out how to ‘justify’ your incapacity and suffering, by finding a new test or doctor that WILL pick up the underlying pathology. I’ve got a lovely back catalog that reads much like the one you have so bravely and kindly shared with the world. I did intend to respond to your post on a certain Prof.N of the Syncope/Chronic Fatigue/ME variety, as I’ve had a similar negative and neglectful experience within her clinic too..but that’s another story…We’ve since requested a second opinion from London Autonomic Unit – may or may not be of use – still on waiting list…

    One thing you’ve been able to achieve (i know at great expense) is seeing Dr.S. I’m yet to get to him (or save up) but its on my list, if only to get some kind of rubber stamp for the need to treat any histamine and mast cell issue in the elementary way they try – is better than ‘its psychological’. I am known to Immuno at RVI for allergies but haven’t seen them since EDS diagnosis. It also made me laugh to read, you mention they don’t accept MCAD at that clinic at present. So I shall be going through the motions of seeing them first but thanks for the head-up on that one!

    I have had some progression on the upright MRI on the NHS though because of extreme Dysautonomia symptoms. These symptoms the Neurologists like to say is ‘PoTs’. Some super-specialists like Prof.S may link the Mast cell and Prof.G might link EDS in general (ie bendy blood vessels ect) but there IS an increasing level of the need to research the effects of EDS on the cervical spine and skull and what this then goes on to cause… Its all very complicated and no one really has any answers here – like you say but that doesn’t make you any less sick and certainly there is something really seriously going wrong but they haven’t figured out how to capture it.

    The only reason we got anywhere with getting an upright MRI done on NHS was to pay first to see Prof.G on a one off basis and get him to liaise with our local hospital. He was able to state the very real need for it to be done and some of the possible causes of Pathology. Now the scans are floating away to the US. But whatever I just think a lot of us with EDS have this so called ‘PoTs’ or Autonomic Dysfunction and develop Immune and GI and Urinary and Gyne Probs, that no one can work out, treat or show on any test. Yet we have an underlying physical gentic weakness, one which means we struggle to hold heads on our spinal cord. I do wonder what things are going on that they haven’t figured out how to ‘capture’ on an image or test yet. So that’s my ramblings. Sorry Jak, you must get sick of these people waffling on your blog. I guess im just saying hi, nice to see you back fighting, what else can we blumin well do flippin eck! …back to under my rock…G’night x

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    1. bertieandme Post author

      Hi LivvySheep

      Nice to see you posting 🙂 Good luck with the upright MRI results – I’ll be interested to hear if they pick anything up that doesn’t show on a supine MRI.

      Prof N’s POTS clinic don’t seem interested if you have EDS (or anything other than simple chronic fatigue it seems to me). Again I’ll be very interested to hear what the London clinic is like – have heard good things about it, so do keep me posted. I think the waiting list is 12 months long though :-/

      Dr Spickett at the RVI allergy clinic only looks for Mastocytosis and says that if tryptase is normal there is no mast cell disease. It’s rare you’d find anyone in the north of England who believes in MCAD, but you might be lucky. At least forewarned is forearmed!

      And I don’t get sick of hearing from people – it’s lovely to hear from you 🙂

      Let me know how it all pans out.
      Jak x

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      1. Tabitha151

        Comment on Tests, diagnosis, etc. re: Ehler’s Danlos type III. I’ve also had innumerable tests, though I had some other EDSII related problems that obscured it for quite awhile ( Three ruptured discs, Endometriosis, Mitral Valve, etc. ). I even went to Mayo and saw nine specialists there, and the ( exact ) diagnosis was missed ( received several related ones, including Fibromyalgia. )
        So, I found a rheumatologist, who specialized in Fibromyalgia. ( Just one of a large number of times God has helped me. ). Because there were so many Rheumatologists to choose from, I prayed about the decision.
        My new rheumatologist quickly did more tests on me than anyone. Many blood tests, DNA, Beighton 9/9, physical exams, etc. the upshot is that my Fibromyalgia (and other conditions, ) are all secondary to my EDS III. We found my Dad has it, also. Thank goodness the males don’t have the extreme symptoms us women do, usually anyway.
        Then having the correct diagnosis, we were able to move forward with effective treatment. So, a rheumatologist specializing in a close condition may help.
        By the way, after I prayed about it, and started seeing him, I find out he’s an award winning physician; and his wife has EDSIII. So, he’s emotionally invested in keeping up.

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    2. Tabitha151

      RE: Histamines comment. Wanted to share what helped me in this area so it might help someone else. I have EDSIII, and much earlier terrible problems with allergies. My pediatrician Dad tested me and gave allergy shots, when I was very young. Later ( in undergraduate school, ) I had a resurgence of allergies ( mostly outdoor plants, flowers, trees, pollen, etc. ). Since I love the outdoors, and was bound for grad school, I got tested again. ( 4+ on all the above. ). I learned to give my own shots, as in grad school it was too time consuming to go for a shot, every week. The upshot is about six years later, I was as close to a total cure as my allergist had seen. Over twenty years later, I still have the majority ( over ninety percent ) of the affect. The only allergy type problems I currently have are an occasional mild runny nose, when pollen is very bad. I can live with that.
      My point is, especially as sensitive as those with EDS are, the allergy shots and longer use now makes sense. They did work, and what a great blessing. No more hives! No more sneezing like crazy. No more sinus infections, all caused by the allergies.
      So, if your first series didn’t work, you may want to consider a second series of shots. I also don’t seem to have a lot a chemical sensitives. I think there may be a connection.

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  4. Marley

    I have had many tests. I guess when an insect venom from the fire ant makes you unconscious after 4 bleeping years of fire ant allergy shots, someone took notice. I couldn’t get to my Epi-Pen 0.3 mg fast enough.
    My husband found me unconscious and administered the IM injection.
    I went to my Allergist in 2 days who ran tryptase, IgE, and IgE to fire ant(all high). He repeated these in one month( Tryptase still elevated at 19) then suggested I needed a Hematologist/Oncologist to see if I had a mast cell disorder. He mentioned that I might need a bone marrow biopsy. The BMB confirmed that 10% of my bone marrow was occupied by spindle shaped mast cells, with a kit mutation and CD 25 marker. I had an abdominal ultrasound-normal, Radionucleotide bone scan- normal, 24 hour urine collection -HIGH for n-methylhistamine and beta prostaglandin D2(2 breakdown products from what mast cells release). Dexa bone scan-normal. EEG- normal, X-ray of sacroiliac joints showed erosion in rt hip, and MRI of spine= stenosis L1-5, pain has returned after 3 years after operation for L4-L5.

    I know now that the first thing one should do with a rare disease is find a center which handles the disease. My Allergist told me of the only 25 patients he knew of in the state of Georgia were treated 150 miles away in Augusta. This Oncologist and a different Pathologist went over the first Oncologists slides, repeated a bone marrow biopsy(the 816 mutation test was negative) and told me I may have MDS(Myelodysplastic Syndrome). I had bi-lobed Neutrophils from the first slides and a problem with platelet formation fron the 2nd BMB. He put me on Pepcid 20 mg twice a day with Zyrtec 10 mg twice a day. He ran a brain MRI 3 times, each 6 months apart with Gadolinium Dye and my meninges were highlighted each time. Neurology did a spinal tap- high in white blood cells, unknown cause.
    Because of this, I was sent to Boston where more patients are seen.
    Repeat 24 hour urine collection w/ similar but lower results. Dr. C put me on Cromolyn 10 cc on an empty stomach, titration up over 8 weeks to 4 times a day- for brain fog. My husband and I agree that it works! But I still suffer from fatigue so a job is not in the works. Ketotifen would be the next step per Dr. C. I was recommended to continue fire ant allergy shots monthly for life as they are thought to offer some protection. My brain MRI is now clear! Don’t know why.

    I was watching a CD from last Sept. 2014 from “The Mastocytosis Society Meeting” with Dr. Joseph Butterfield, of the new clinic for Mast cell and Eosinophillic diseases at the Mayo Clinic, Rochester, MN. His lecture was on Histamine Intolerance. He said that 90 drugs interfere with DAO activity, Cimetidine being one. There is a new test “LTE4” for Leukotriene E4 in mast cell disorders.

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    1. Glo

      Cimitidine gives me heartburn which I rarely have. Just nausea every morning for 10 years and the mental bits. The depression and especially panic attacks. Have been on Claritin and low histamine diet which helps but is very frustrating. People don’t get why your being such a whiner about what you eat. My fatigue is better also. Have not had the bone marrow tests etc. I feel like I’ve had everything else. I hope you find some clarification and something that helps the fatigue. This is a constant search. I thought 10 years was long and then I read what others have been through. All of you are amazing to have the hope and will power to continue this search. Hopefully we will all find some positive answers. We have to keep pushing for answers.

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      1. Tabitha151

        Comment on what I used to call ” my energy deficit :-)”. The diagnosis was Chronic fatigue, secondary to EDSII. My rheumatologist recommended I try a supplement called D-Ribose. It works, and even helps with pain, a bit. In the clinical studies, the patients took 15 mg per day of this, for six weeks. Then continued it as it helped.
        Needless to say, check it out with your doc before you try it. Also, I’ve found that it helps with alertness or focusing. Good luck.

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  5. d

    Hi Jak

    I was catching up on your blog posts. When I read the tests you had done for your MCAD I felt so frustrated! Where I live, I have had Serum Tryptase and skin prick testing. That’s it. The specialist looks at the serum tryptase and says, it’s normal so you don’t have a mast cell disorder. Ummm how about all the other people I read about who get other tests completed to flesh out their problem, who have an MCAS diagnosis with normal serum tryptase? It’s all about where you live it seems. I am going to take your list of tests and ask my physician if any of them can be completed. We shall see!

    d

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    1. Jak Post author

      I can absolutely empathise with your frustration d! It’s been a 10 year battle for me to get diagnosed with MCAD. I was told locally it’s not possible to react to all drugs, therefore my anaphylaxis was a panic attack and I just needed to do some deep breathing. Then eventually I went to a specialist allergy centre 100 miles away, where I had tryptase measured and the skin prick tests done – like you found, I was told that I couldn’t have mast cell disease with a tryptase of 4. So then I paid nearly £1000 and travelled 300 miles to see the only MCAD consultant in the whole of the UK who did the tests I needed.

      I can’t remember which country you’re in, but if you’re in the States you get MUCH better testing than here in the UK. If you do live in the USA (or in some parts of Canada) let me know and I’ll tell you which tests to ask for.

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      1. Declan

        Jak I saw you had posted on Elizabeth milo site
        I have being trying to show her how important the test attached she completed is.
        I feel maybe she is too ill to realize its importance.
        I also have completed this test.
        If you could review it and see the connection perhaps you could relate
        How very important I feel it is.
        You can see link for RealTime Labs all the information required.
        This is the only certified medical lab in the US to carry out such a test.

        Elisabeth.
        Your RealTime Labs Test shows 3 very Serious toxins
        This your test results
        11/13/2013: Mycotoxin urine test ~ Realtime labs:
        Ochratoxin 5.25 (1.8-2.0) Positive
        Aflatoxin 0.98 (0.8-1.0) Equivocal
        Tricothecene 0.53 (0.18-0.2) Positive

        This taken from real time labs site direct.
        https://www.realtimelab.com/molds/
        Which molds produce these mycotoxins?
        Species……………………………..Mycotoxin
        Aspergillus Flavius………………..Aflatoxin (AT)
        A. ochraceus ……………………..Ochratoxin A (OTA)
        A. Niger …………………………………….OTA
        Penicillium verrucosum ……………….OTA
        Stachybotrys chartarum …………….Macrocyclic Tricothecenes (MT)
        A. versicolor …………………………Sterigmatocystin
        A. fumigatus …………………………….Gliotoxin
        Chaetomium globosum………………Chaetoglobosin A, C
        Fusarium sp……………………Simple Trichothecenes (e.g. T-2 and DON)
        You really are missing how important this is.

        A woman in Scotland contacted me last year
        She has been ill 20 years.
        I sent her all my test results and information
        She sent me email last week.
        Her consultants have now diagnosed her with Mold exposure from Aspergillus, your test shows high levels of same!?

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  6. Bugsmetwo

    I’m curious about your nerve conduction test. The regular EMG performed only tests for large fiver neuropathy. To test for small fiver neuropathy – which is peripheral neuropathy- a nerve punch biopsy has to be conducted and make sure the punch is in the correct places.

    I sure wish my docs would do some more testing to find out why I react to everything and why suddenly I’m allergic to everything around me including foods now. I’m tired of being asked if I have Fibromyalgia when I know all of my symptoms started after having adverse reactions to Cipro.

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    1. Jak Post author

      Skin biopsy isn’t the only way of testing for small fibre neuropathy as far as I’m aware http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086960/ although it’s part of the process if other tests have shown abnormal results. I’ve given up on trying to get to the bottom of my symptoms if I’m honest – even if I did have small fibre neuropathy there’s no treatment as I can’t take drugs and the cause would be put down as “idiopathic” which also means nothing. Actually, reading this reply back I have no idea why I bothered having the tests done in the first place lol!

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      1. Bugsmetwo

        Hmmmmm…….not to argue but that awesome article you posted, says that skin punch biopsy is the best way to determine pure peripheral neuropathies and that electrmyogram (spelling of EMG) is not able to detect small fiver neuropathy but only large fiber neuropathy. EMG us the most comprehensive one and eliminates doubt with the others. I also thought idiopathic meant unknown. I know the current medical treatments are not very nice and I do hear you on not being able to take the drugs necessary to control the pain. I was just trying to help by pointing out what I’ve learned due to neglect from the medical community here in the U.S.

        The neurologist I saw 14 years ago completely dismissed my symptoms of neuropathy because he only performed an EMG when I was in a wheelchair unable to walk due to pain and weakness so severe that I could not support my own weight of 115 lbs all while having a Clostridium difficile infection for three months due to Cipro. The injustice of it all and Inhumane treatment by the medical community is a travesty.

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        1. Jak Post author

          My mistake. You obviously know much more about these things than me – I’m no expert and I don’t look closely into things that I wouldn’t benefit from as my enery is so limited. The health care system is so vastly different here in the UK it’s like night and day compared to the States. I’m always jealous of your ability to just see whoever you like and all the tests and treatment options you have which aren’t available here.

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          1. Bugsmetwo

            See thats the part I don’t know about. The doctors refuse to do tests without a suspected diagnosis. It makes no sense. Because I’m female I am undermined in my ability to research because I am not a doctor. I am not an expert either but when I am taking medication that clearly states it had the adverse reaction of causing permanent peripheral neuropathy and the doctors dismiss my symptoms I really start to wonder.

            Please don’t be jealous of my ability to see whomever I like. It is frowned upon if you go over your primary doctors head and not to mention the thousands and thousands upon thousands of dollars we are in debt to about my medical costs. It shouldn’t cost me $300 a month for prescription meds on top of what we already pay in insurance premiums and then additional doctor visits. It’s a crazy mess in the making and not working for those of us who are chronically ill.

            Please know that I value your blog and the information I am learning and relating to my own symptoms. You seem very well put together!

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