Can anyone relate?

[Cricri70]

Good morning all,

If this message is not appropriate please accept my apologies and delete. I hope it is not though as really need help.

I am conscious this might be a long shot but would anyone relate to my daughter's experience? And if so, how did you get the right medical help?

I myself was diagnosed with Systemic Mastocytosis over 10 years ago.

I am pasting below the email my daughter sent to our surgery. She asked them if she could have an ANA & ENA and tryptase blood test but they said the ANA&ENA was not needed and they were not sure about the tryptase. She is at a loss and so am I

Her message:

To whom it may concern,

Following being ill again and my friends/family commenting on how frequently I am unwell I would like to know if you can run an ANA & ENA blood test to see if I have any markers for an autoimmune disorder. My mother has a rare disorder (mastocytosis). I would like for my symptoms to be looked at as a whole rather than each of them treated independently and they always come back - it does not cure the root cause.

My main symptoms are:

- Frequently falling ill - usually laryngitis/flu/chest/sinus infection

- And when I do fall ill it completely wipes me out and it takes a long time for me to recover (at best 2 weeks but more often longer)

- Fatigue - varies from slight fatigue to extreme where I will take several naps during the day

- Bone/joint pain

- Stomach pains / bloating / discomfort as well as constipation and diarrhoea and gas

- Lower back pain and knee pain

- Headaches

- High pulse, always had one - highest it has ever been was recently at 146, usually around 105-120 - during my surgery my pulse was consistently high between 115-130. Whilst under anaesthesia and asleep my pulse was never below 70

- I have medication for anxiety / depression but now wondering if there is a biological underlying

- Strong difficulty falling asleep and remaining asleep - recently had to be prescribed promethazine to aid but this does not always help - I am worried my body is just getting used to it and it is not working anymore

- Patchy coloured skin on legs

- Allergic reaction to the patch to the point where it had been stopped as so severe a reaction (I have more photos to the one that I sent last time) - it felt like I had been burnt, my skin is still marked in multiple places from it

- Allergic reactions to insect and mosquito bites and hay fever (seem to get worse every year)

- Recent surgery showed long standing constipation even though I had the bowel prep

- It also showed no endometriosis (was diagnosed with it 6 years ago), biopsies taken and sent (unsure what for - was not told)

- I had big difficulties urinating following surgery so had a delayed discharge, when trying to see why and the hospital performed an ultrasound I reacted and felt very strong stinging sensations from the gels (tried 3) applied - they believe I am allergic to these too

I am part of the endometriosis group and explained my “medical journey” to them. Another patient shared she had similar issues and was diagnosed with Mast Cell Activation Syndrome. I am curious as to if this could be the case for me too?

I am at a loss as to what to do next and who to turn to. I do not know what exactly I am allergic to nor why I feel this way and what can explain the above as well as pains no longer explained by endometriosis. Pains that were put down as endometriosis go as follows:

- Heavy & painful periods (have mefenaic acid to help although I was given back-to-back contraception to try alleviate the pain but would still bleed through)

- Pain during and after intercourse, bleeding post intercourse

- Lower back pain

- Cramps/Bloating

- Mood swings around that time of the month

- Seems that my bowel problems worsen prior, constipation, and after its diarrhoea.

Side note: I also had severe vomiting following codeine, so I am no longer allowed to have this.

I jut want some help and advice as to who to turn to. .

Thank you for taking the time to read this.

------

The GP is not looking at this holistically and it has been a battle for her to be seen to get adequate treatment. I apologise for the long message but I feel it's important to give as a comprehensive picture as possible.

I hope someone can relate and share and how they managed to get a diagnosis.

Kind regards.

[LotiRamjet]

Hi Cricri - I don’t know where you are at today, if you were able to get the ANA and ENA tests, but I have every issue you have and I have systemic Mastocytosis as well. My ANA is variable, sometimes high and sometimes not. It hit 1300 a couple of years ago and I had drug induced Lupus apparently, but it comes and goes. And yes, my doctor said Mastocytosis can cause autoimmune issues. I felt like I was going nuts for years until I was diagnosed because people looked at the parts of my body and not the whole. I accidentally fell into the diagnosis by a doctor who put me on antihistamines and I improved. I was tested after going on meds and am getting better. Not great, but better as I’m still on the path of figuring this out. There is a genetic component to Mastocytosis, which you can find on the internet, the KIT gene, I believe, and another. Several of my siblings have it to one degree or another, but I am the worst, unfortunately. Let me know how you are if you like …

[bluecar15]

I just read your post and really feel for your daughter because, yes, I definitely relate. I've been chronically ill a while and I definitely have met people who are looking for links where there aren't any and trying to blame a underlying cause for a selection of symptoms that we just have no scientific basis to together. The old causation vs corellation argument however, I do feel this is completely understandable when you look at our health system and see how let down a lot of people are, they've been left without answers and without support so of course they are searching for a answer! And of course at that point you are going to be desperate enough to grab on to a potential answer and maybe look for evidence to suit your theory so I am in absolutely no way blaming any of these people. They are acting in a completely understandable way considering the situation our health system is putting them in and then that same medical system is laughing at them for not having the medical education to see bias/a lack of good evidence. Of course a lot of people don't have that ability, they didn't train to be a Dr, they didn't want to be a Dr and yet they have been forced to take on that role with 0 training. Frankly it's surprising we don't see more pseudoscience.

What I personally think I am seeing happen, is drs seeing so many of these cases (because as support lessens, more and more people are undiagnosed and driven to these more suspect theories out of desperation) and have begun to immediately assume everyone who suspects a multisystemic disorder is doing this and jumping to conclusions that aren't there. Despite us having a growing suit of good scientific evidence to show that often diseases do not act independently on one system alone and that many treatments and illnesses do have knock-on effects in completely different parts of the body. That a disease like this should be treated holistically is current scientific consensus and drs should be acknowledging that, unfortunately, they are in a system that has been set up to do the opposite. With each body system ring-fenced to a different department, systemic diseases become very difficult to treat and here I believe another factor comes in to play.

I truly believe that 99.9% of drs want to help their patients. They are in the job to help, they want their patients to be OK. This is a difficult goal when you are prevented from doing that day in day out, by a system that isn't set up to do that at all, by limited funds, limited time, by processes set up by people who don't understand the end goal of those processes. And having that as your goal and having to face that you can't give these people the help you want to give them, because of the system you entered to help them, is frankly devastating. I've been in a job where I wanted to help people and where I wasn't able to for the above reasons and I eventually had the same response that I've seen time and time again in others and that is what's happening in health. Your mind can't cope with you wanting to help but being restricted and so you begin burnout. You loose empathy for people's situations and your brain desperately searches for a out, a reason why you shouldn't feel guilty about being a part of the system that can't help them. And honestly you start to look for ways to blame them, to ensure you are right. Because you have to be right because this is everything you are working towards, you are trying to help and if you are actually supporting this system that is creating harm then what are you working for? It starts with you getting irritated at little things. A patient is continuously late and whereas before you'd emphasise and wonder if there are other problems in their life causing this, if you can help, you take it as a slight. Before you know it you are blaming the late patient for the broken system. Well if patients took personal responsibility it wouldn't be like this. Next, you are doing the same for something slightly more unreasonable. Before you know it you are placing the blame for the system that won't let you help, on the shoulders of the very people you want to help. You can't admit you are wrong, you can't admit the system is wrong, it has to be the person that is the problem.

Add this burnout to the arrogance that our medical education selection process unfortunately breeds and you've got a perfect storm. Then throw in someone asking you to do your job differently, to look at something a different way. They need help that would require you to go against the system. You need to spend lots of time when you are being told to spend less. You need to spend lots of money when you are being told you don't have it. you need to acknowledge that our ringfenced health system was a mistake and you need to face the fact that you missed something big, in hundreds upon hundreds of the people you thought you'd helped. With all of that is it really any wonder that many drs run from the truth and refuse to acknowledge how little we know about the human body? We are not at the height of medical innovation, we are at the start. In the far future our medical system will be next to blood letting and humors in the history books. There is so much we don't understand and so many knock-on effects of any foreign disease or medication on the billions of little processes that keep a human ticking that its not surprising to be constantly reaching points of reevaluation and correction of current consensus. The medical education system breeds drs who feel they know it all. Who have strode in to save the day, to fix people, and found their instruction manual out of date and their tools archaic. And so many drs, refuse to see the truth. Refuse to admit they are wrong and refuse to see that they can't supply the help that's needed. Not out of malice but to protect themselves from the realisation that they are not helping nearly as much as they want to.

Anyway I'm so sorry because this essay is not what you are looking for I just feel really strongly about this.

There are unfortunately a lot of drs who have fallen in to this trap and they are all reinforcing the idea to each other that they are right. To them, a patient with symptoms of a well proven but multisystemic disease may as well be connecting dots that aren't there. They have to convince themselves of this, against all evidence because otherwise they must face the catastrophic truth that they have failed. They are not helping. And our medical system does not produce drs who are used to failure. We pick overachievers. Strivers. Those who don't know how to be wrong.

This is how you end up with drs making arguments against all logic. I'm not diagnosing your daughter, I've never met her, but basic logic argues that a close genetic relation to a person with a genetic illness known to cause multisystemic symptoms experiencing several symptoms known to be related to that illness, should be sent to someone who knows enough about that illness to at least rule it out.

'Patients can have as many diseases as they damn like' i hear all these drs argue. of course they can, even with the principle of parsimony, you'll still come across someone that defies the odds and despite an obvious presentation, ends up being the odd one out that has several distinct causative factors for their illness but the fact of the matter is, if you do not understand a disease well enough to see it as a potential despite several very logical arguments why it is likely, then you are not the right person to prove or disprove it as the cause.

I've gone on a complete tangent I'm so sorry. What I wanted to say was, I completely understand why your daughter is suspecting mast cell involvement. Her drs response is one I've seen time and time again and the above is me trying to understand someone learned in science acting completely against logic. At this point she has more than enough reason for mast cell issues to be investigated and so I see two possible modes of action to get her gp at least on board and pass the first hurdle.

1. Present the argument for a link between several symptoms and for the liklihood of mast cell dysfunction in a calm collected and scientific manner, providing many non biased sources of which she knows and understands inside and out. Do not bring emotion in to it as that will make the Dr possibly doubt her. This of course would require master emotional control in a difficult situation, a indepth understanding of medicine, a lot of reading and research and some pretty great debate/negotiation skills.

2. Pay out for a private consultant who is knowledgeable in mast cell disorders and hope that they have enough knowledge and prestige that they can convince your Dr for you.

I'll be honest, in your daughters position, despite a strong ethical stance against paying for any healthcare and the knowledge, negotiation skills and medical knowledge to take step 1, I still went for step 2 out of pure exhaustion. Even knowing that my Dr is a good Dr! He is willing to listen, he does not let arrogance hold him back and is willing to change his mind. He just isn't given the time to keep up with research. He isn't given time to listen to my winning argument. He is tired. And so I went for step 2 as I knew it was the easy option for me and my gp. He read the letter (though reading between the lines he struggled to find time even for that with it giving a detailed account of the diagnosis and the consultants reasoning). With him convinced in the most timely way possible. He's brought others in my surgery on board to support me. I've been prescribed appropriate medication that I know many struggle to get prescribed in primary care, he's recorded the presence of mast cell dysfunction in my notes and the multisystemic nature of my symptoms and he's helping me with the management of a diagnosis that I know many of his colleagues in the NHS doubt. I couldn't ask for more. I know I'm lucky, I know I have a great Dr, its why I've stuck with him all this time, it's why I sing his praises. We've gotten through bureaucracy, doubted diagnoses and lack of resources before and we'll do it again.

With his support I am now facing the next hurdle: I can no longer afford to go private past the initial consultation and NHS secondary and tertiary services seem to have introduced something of a blanket ban on mcas? Presumably due to limited resources and a increase in referrals due to long covid as many of the consultants staffing the services are still seeing mcas patients privately (indicating that they are knowledgeable and can treat mcas although the standard message on allergy departments referals page currently is something along the lines of 'we do not accept referals for mcas as we are not specialists'). I guess our next task is to test the limits of this rule as my current diagnosis sits in the 'mast cell dysfunction most likely mcas' court thanks to me meeting the mcas criteria though the only investigation to rule out mastocytosis has been a negative tryptase and thanks to a possible pattern of inheritance in my family/ongoing skin involvement and potential signs in close relatives historically that could indicate something more along the lines of uncontrolled systemic mastocytosis (unexplained organ failure, unexplained low bone density) I might like to be a bit more sure to be honest! Therefore I'm intending to find the line between mcas, multiple systematic allergies and potential mastocytosis and find someone somewhere who will accept a referral.

If i don't succeed, meds wise the only treatment I can't access are biologic injections which hopefully i won't need. I won't have the security of knowing that any emergency drs are considering the full picture and consulting specialists in the event of any need of emergency acute care though honestly even with a specialist and known diagnoses I've found this doesn't tend to happen. And there is no monitoring bloods or bone density wise. Plus I'm managing it all myself and having to do my own research for any questions and do not have access to genetics/biopsies for ruling out mastocytosis.

On the whole it's not a terrible worst case scenario. My symptoms are under much better control now and I'm lucky that I have alternative diagnoses to fall back on for most symptoms (asthma, eczema and hay-fever type allergies) allowing me to access steroids and allergy type medications for an increase in skin/resp/eye symptoms. it's definitely not perfect and I don't feel I have a good enough imperfect solution to actually offer advice but if your daughter wants to know what someone else did and how well it worked for them there it is. I will say my symptoms lean more towards the allergy and side of things than reproductive/urology so that is different for me, plus I'm diagnosed with a connective tissue disorder so a lot of my pain can be attributed to that (if ignoring the mast cell connection to connective tissue lol)

From my own experience if your daughter was unable to get holistic support she could look at any individual symptom management that she hasn't already. I know this isn't the answer she wants but thinking of what has helped me, pain management services teaching pacing, relaxation to help with fatigue and stopping pain escalating unnecessarily (it's not being treated but I'm at least not making it worse by overdoing/underdoing activity) they were able to link me with a sleep psychologist too who really helped me work on my sleep hygiene which again helped things a bit. The not endrimotris one seems tricky. Who sent the biopsies? I would chase with them, if biopsies are being taken/ it's a possibility I would be encouraging them to be checked for mast cells on the off-chance in her situation. If she's being seen by specialists as well as primary care she can certainly try broaching mast cell involvement to each of them. She might have more luck with a specialist service, especially one that's dealing with disappearing endemitriosis and trying to investigate. If they are struggling to find a answer they may be more open to suggestions and more likely to investigate that route. I had problems with periods but found a contraceptive that stops periods in a small number of people and managed to convince the contraceptive nurse to let me try. I've been fine since then touch wood so not much experience in that area. She could try a gastro referral if she hasn't and suggest trying h2's? I was initially put on ppi's after complaining of gastro/reflux problems and asking for h2's, suggesting allergy involvement. Later I started the h2's after suggestion in a letter from my private consultant and stopped taking the ppi's myself (I am not suggesting discontinuing meds yourself don't do that!!!) But I think she could certainly try just asking for h2's when telling a gastro of her symptoms! It might work for her and they may work so there's nothing to lose. There are definitely pain medications other than codeine she could try. If gp is uncomfortable suggesting could he refer to a pain consultant dealing in medication management? I find a as needed approach works best for me to get the most out of pain meds and limit bad effects but I do still have significant pain all the time, something I've had to work on accepting as a part of my life. Derm for skin? Cardiology for tachycardia? It's exhausting and not ideal to be looking at everything separately I know but it may be better than nothing if she can't convince the gp with the mast cell investigations plus each new specialist is someone who could refer to a mast cell specialist/ run tests which may help her argument.

My only other thought is do you have a ongoing consultant for your mastocytosis? Maybe she could directly ask her gp to be referred to rule it out. Take in a list of masto symptoms hilighted with those she experiences and maybe go at a (slightly exaggerated) angle of 'my mum is very familiar with masto and is insisting I get checked out because of symptom x y,z this is the consultant I need to be referred to'

I know it's not ideal to Stretch the truth an f feels uncomfortable but I've found coming at an angle of 'help me prove it isn't this' helps with some sceptical drs.

I'm so sorry for the length but I hope there's anything of use in here! It's so difficult having unexplained health problems especially when you know there is a possibility that you know what it is and it can be treated.

[Woodpecker2021]

Hello, apologies for the delay in my response. I can identify with some of the issues. Very bad period pains run one family as does hEDS and various mast cell conditions. I have hypertryptasemia and my periods got a lot worse as I became more sensitive and reactive to chemicals and developed more food intolerances. I tried that acid you mentioned but my stomach completely rejected it. In the end desogestral worked for me. No more periods and my body is ok with the once a day tablet. The first tablet of a different medication was not good and I had to stop after three tablets so it's a case if finding one that works for your daughter. My mum had a hysterectomy (a bit extreme), my cousin reacts to any tablets. I take ketotifen once a day to calm down my mast cells. I tried twice but not enough of an improvement to justify so back to one. I started doing Annie Hopper's Dynamic neural retraining system a couple of months ago. It was mentioned at the annual mast cell conference by Dr Bethan Myers and one of her patients had done it finding it beneficial. I also came across it also in a book recommended to me. It's very good and focuses on retraining the brain for people who have impaired limbic systems (chemical sensitivities, every sensitivity, chronic fatigue syndrome, chronic pain, anxiety, depression etc). I am seeing benefits. Hope for a start (I never used to have some of these issues prior to chemical exposure and bacterial infection so surely I can reverse it). It's 350 us dollars, £280 cost to me. You get access for one year. There are some YouTube videos so you can listen to people who have been through the programme. Worth looking at. Considering the money I've spent over the years this is very low cost. I hope your daughter finds great improvement and can start to enjoy life again. 🌻

[JayCeon]

Brilliant posts here in this stretched thread - I just read it all, praps for the first time.I second everything bluecar15 's said.

Just in case anyone's interested I seem to have a totally different approach. I treat all my symptoms myself, with supps, acupressure etc., no meds (except a 2nd gen. antihistamine in "emergency"). That's severe fibromyalgia, jab-triggered MCAS, high lipids and more. Looking at the symptoms in the OP I would be able to get or have got all these symptoms down to 5-10% except the fatigue, which has become my only focus, as it's brought all activities down to 10-20%. (Don't know about the gyn problems of course.)

Yes, I do see the theoretical beauty of finding a root cause which would bundle everything up. And spend an average of 20h+/wk 'researching' that along with all symptoms, triggers and treatments. But the search for the holy grail doesn't get me there, it keeps getting me to "gurus" (the latest one was Morley Robbins - a nice guru though, but not doc) and when I do what they highly recommend it doesn't work or I don't tolerate it. It all furthers my ideas for single symptoms though. I found Robbins because I'd seen testing for (very low) and then taking copper (Hagmeyer & healthfully) reduced the orange spots on my legs (see OP), which my docs and I assume might be iron deposits. Still not finished with that. But I took a good copper form for probably too long already and I'm not at all sure about the ones he recommends.

So I've long given up believing in meds and docs and "one solution". But sometimes also in my unbelief - hope springs eternal.