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Tania's journal of drug treatments and other ME things

Discussion in 'General Treatment' started by taniaaust1, Dec 28, 2011.

  1. taniaaust1

    taniaaust1

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    Mast Cell Disorders

    excuse my poor spelling of things next post.

    My reaction after my latest health crisis was ring my uncle for advice. The uncle interstate, who I only talk to probably about once every couple of years as he's very sick with systemic mastocytosis (he's had chemotherapy for it in the past with a bone marrow donation, which did help it some but now is worsening again and he's ending up in anaphylatic shock and in hospital once a week so is far sicker then I), so I hate to tell him of my trouble. I really hope I didnt upset him as that can easily put him into hospital, any kind of stress can.

    My uncle told me today that he doesnt quite think I have what he has as thou many of my symptoms point to it, my presentation would still be a bit unusual but he does think I probably do have a mast cell issue eg mast cell activation disorder.

    I'll took some notes from my phone call to him which I will try to follow up some and maybe will help someone else.

    For systemic mastocytosis, he says get a bone marrow test done and a 24hr urine tryptase test done. There is also a tryptase blood test (Ive had that one done but it was normal, my uncle says that often is normal if one doesnt have mastocytosis but instead has mast cell activation disorder).

    He said that those who have mast cell activation disorder unlike masto.. they have a normal numer of mast cells but rather something unknown activates them. He said that in Western Australia where he is, they tend to be treated by haemology specialists as they need treatment throu the hospital as the drugs they need arent on the PBS so hence gotten throu the hospital pharmacy. Some patients with this thou are treated throu Immunology.

    He said that Anaphylactis is one of the most unrecognised thing in the ER as it isnt usually recognised till in late stages. Not just chemicals but also stress is very bad for those who have mast cell disorders.

    He told me that with his systemic mastocytosis, he too gets high BP spikes (thou when he's gone into shock, his BP then goes low). Something I thought was interesting was that he gets fevers up to 40C, cause of the masto. (the more I hear about masto the more I think some ME/CFS people may be experiencing it with wrong diagnoses).

    I was very interested to hear that the first thing which is done for him when he gets to hospital, is they have to give him a saline IV!! to start to stabilise him, before they can give him the meds (H2 betablocker, H1 betablocker ... and another drug for mast cell disorder too).

    I asked him about masto gene analyses stuff. He said something about 97% of those who have masto have X on 17 condon 816 (whatever that means). DV816 (I see Ive got some research to do).

    He also something about
    CKITEXON17 or maybe it was CK1TEXON17

    Its sad to hear that he's ending up in hospital weekly. He hinted to me that I need my doctor to put a hospital care plan into place and its that which really helped him. I was shocked to hear that he too even with a life threatening condition to chemicals, once got badly treated at hospital by a nurse wearing perfume who ignored that she could kill him (and purposely kept moving towards him).
     
    Last edited: Jul 6, 2014
  2. Valentijn

    Valentijn Activity Level: 3

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    It looks like there's been research into codon 816 on the KIT gene, which creates a receptor that is involved in a ton of things. I'll try to find the SNP's rs number, and see if I can find it in your 23andMe results.
     
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  3. Valentijn

    Valentijn Activity Level: 3

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    It looks like KIT 816 is at rs121913507 (Chromosome 4, location 54733155) at http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121913507 . But 23andMe locations don't synch up currently. Doing the relevant maths, it looks like KIT D816V corresponds with i5007903.

    All of the ME patients I have data for (including @taniaaust1 ) have AA for that SNP, which means we don't have the mutation. Your other SNPs on the gene also look normal, though of course not all SNPs are tested on it.
     
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  4. MeSci

    MeSci ME/CFS since 1995; activity level 6

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    There have been threads about mast cell disorders in PR - not sure if you have contributed to them. Many of them have 'mast cell' in the title so they are easy to find with a title search.
     
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  5. MeSci

    MeSci ME/CFS since 1995; activity level 6

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    It is indeed possible to have hypertension with low blood volume. I have had hypertension for years, and I am pretty sure I have low blood volume too due largely to polyuria.

    I just found this scientific paper about hypertension and blood volume. Maybe your health 'professionals' should see it, e.g. this bit, which may well be relevant to people with ME:

    I have been discharged from hospital when still seriously ill and without any treatment, only to have to be rushed back and then admitted properly. This was when I had severe hyponatraemia (low blood salt). I eventually discovered, when finally getting copies of my notes months later after being repeatedly denied them by the hospital, that I had actually suggested hyponatraemia to the A&E doctor on arrival, and she had rejected my suggestion, and obviously not even bothered to test my blood sodium! It turned out to be 115 mmol per litre, which is potentially life-threatening.

    Your whole experience is horrifying. I can relate totally to the disbelief and lack of respect that you received, as I have had the same.

    But the ambulance people not using their stretcher when you were lying on the floor????? Should that not be a disciplinary issue?
     
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  6. taniaaust1

    taniaaust1

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    Thanks a lot :) . I was having trouble working out and just spent quite a lot of time trying to do so (im about to go to bed now without dinner as this research has exhausted me). For anyone else interested in systemic mastocytosis or mast cell disorders.. here's a little info below. I suggest to check out your KIT genes (I was about to do that by comparing mine with someone who certainly wouldnt have mast cell disorder to try to work out which, if any, were probably mutated).

    quote is from http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIT&search=0c82ce531493847c8d5d7440cfca939f
     
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  7. Little Bluestem

    Little Bluestem Senescent on the Illinois prairie, USA

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    Yes, and what does eating and taking medication have to do with receiving IV saline? :mad: If you are dehydrated, you are dehydrated. :bang-head:
     
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  8. MeSci

    MeSci ME/CFS since 1995; activity level 6

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    I seem to have missed that bit, but this is almost unbelievable - the ambulance people saying:

    I say 'almost unbelievable' because sadly I have had so many dreadful and crazy experiences with the UK health service (among other things) that I find it all-too-easy to believe.:(
     
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  9. taniaaust1

    taniaaust1

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    Thing is it was actualy on this occassion fairly easy to tell I was dehydrated, when I got to the hospital I thought to push my finger in to see if it stayed dented (sign of dehydration) and sure enough it did just that. The ambulance people didnt check anything at all like that. All they seemed to want to do is to have me prove to them I collapse if I stood up.

    What is even worst is that this was the SECOND time straight this has happened with ambulance personal (different ones). I think I need put on already too large to do list that I need write to the actual amulance service, not only complain but inside include info on the disorder and tell them they need to educate their personal to stop disputing that it isnt possible to have high BP and be dehydrated or have low blood volume at the same time.
     
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  10. taniaaust1

    taniaaust1

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    Update

    Today my elderly friend came and give me a bit of a hand. The garden waste bin only gets picked up once a month so todays job was try to get it full (it was already half full) to go out in the coming week, so we cut up all the fallen tree branches from the last storm which were laying all over my back yard. I sat on a chair with legs up, cutting all the smaller bits up which my friend brought over to me. I over did it at one point just a wee bit and he had help me stagger inside but fortunatly I'd stopped just in time and I was able to lay for a while and recovered from the POTS.

    Im still screwing up all my bills and couldnt remember which I'd paid and which I hadnt, so my friend spent some time sorting it the mess I'd made with things. It took a half an hour phone call to find out if I'd remembered to pay my ambulance service renewal or not. (that would of killed my arm holding on the phone that long, I wouldnt have been able to do it).
    .........

    I have a slow cooker now :) , my friend had a spare from cleaning out his second house . So hopefully that is going to help me.
    .............

    Before he arrived today, I spent more time looking into masto stuff, I have so many masto symptoms that I still wonder even if I dont have that gene my uncle mentioned, so want to rule out if I have mutations in the other common masto genes. For anyone interested in other genes found in masto http://diseases.jensenlab.org/Entit...eriments=10&type1=-26&type2=9606&id1=DOID:350

    As I dont know which I have expressing normally and which arent (I wish 23andme didnt just give the results but told us that in the raw data) its kind of too hard to all work out for me currently, so I decided to focus on research the list of my homozygous gene mutations from Valentijns program to see if any to do with mast cells come up (ive only even got as far as working out the first two pages of results for my homo mutations). Anyway so I got another 15 of my homozygous mutations researched which is always have interesting such come up when doing that.

    I found out I have a rare familiar breast cancer and breast cancer gene rs806705 its called SAFB2. (My grandmother died from TWO completely different forms of breast cancer). So I guess at some time I should find out just how much this one increases my breast cancer risk. (one of my grandmas breast cancers was a very rare form of breast cancer which grows EXTREMELY fast. It grew crazily fast).

    I also found I had a rare colorectal cancer and prostate cancer gene rs16855546 called LEMB1 . (both my grandfathers died of prostate cancer and my great grandmother died from colorectal cancer.. its what annoys me that my bowel bleeding at times has never been investigated and just dismissed as heamorrhoids).

    I may of found the reason why my daughter was such a hungry baby and child thou I had plenty of milk I had to start her on solids at 4mths (she was screaming for real food at 3mths of age, she was always hungry baby).. and as a child she used to actually raid the fridge in the middle of the night!! Hide food in her room etc ec. I had to always keep an eye of her to stop her from getting very obese (she's very obese now as an adult). Turns out I have LEPR (leptin receptor) mutation which is assoc with obesity (I can really binge if I dont watch myself if I have an appetite) and my daughters eatting is well explained by its associated illness "leptin receptor deficiency". http://www.malacards.org/card/leptin_receptor_deficiency

    sighs and my binge eatting at times is one of the reasons I got hit with a borderline personality disorder label! ah well, when I try to get that false diagnoses off my records, I'll make sure I will be bringing up that I have this mutation which can affect appetite and certainly help make one want to binge eat! I try to eat sensibly but when Im around good food, I have no control (unless being affected with the ME which makes me not want to eat).

    Ive even mentioned in the past to disability services, my issue over spending my shopping money if I get it in advance, I end up spending it on takeaway foods Im not supposed to eat (and then Im sick due to diet breach). Hence why Ive been arguing with the disability services who want me to always have money at home to go shopping to give to workers if I cant go to the bank. I keep my lack of self control at times over food, in control by not keeping much money on me at home (and when I go shopping I only buy foods Im allowed to be eatting). Im sure this double mutation is having "some" affect on me even if I do not have that full disorder.

    I found I had two rare mutations to do with insulin resistance (the issue I have). One of those had also to do with tyrosine kinase activity (mast cell disorders have issues around tyrosine kinase). While the other can cause protein S deficiency (a problem with excessive blood clotting). So I guess with my MTHFR mutation which can causes increase stroke risk due to excessive blood clotting too, this double mutation probably just has even higher increased my stroke risk.

    I have mutation of CELSR1 which is associated with neural tube defects and spina bifida esp if there are other factors coming into play too. That's very interesting to me as my daughter was born with a neural tube defect and has similar to spina bifida, so this would of played a part in that along with my MTHFR which affected my folate.

    Lastly of interest to me I found I had a mutation of LONP1 (rs11085147) which is to do with mitochrondria and ATP (I have a few mutations like that which have come up). LONP1 explains something Ive had happen very suddenly on occassions (a few times or so a year), this mutation associated with something called Glossopharyngeal Neuralgia http://www.malacards.org/card/glossopharyngeal_neuralgia (and I get the pain just as decribed there.. it only last a few seconds but its soo painful which this happens). At least I know why I get this pain and what its called.

    LONP1 also can cause hereditary spastic paraplegia (which can cause spasticity throu muscle contractions) http://www.malacards.org/card/hereditary_spastic_paraplegia . I do not think I currently have this but I want to research that further as a couple of weeks ago I had a strange thing happen which Ive been a little concerned over since.

    A couple of weeks ago my friend moved my leg (just a little) and something within my leg.. like muscle? locked as he moved it and this resulted in my muscle feeling like it came close to being torn (he didnt over extend anything, just the act of someone else moving something slightly did this, caused muscle to weirdly contract against the movement). Anyway, its concerned me as I do feel it came close to tearing my muscle with just a tiny amount of pressure and whatever then went on within my leg (spasticity).

    Thanks so much Valentjin.. that list of my homo mutations is really explaining quite a few of my issues eg the one with the sudden pain I get etc (I'd previous found autism gene on it which of cause makes sense with my Aspergers).
     
    Last edited: Jul 7, 2014
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  11. MeSci

    MeSci ME/CFS since 1995; activity level 6

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    Glad you've got a slow cooker now, @taniaaust1 :).

    Re the leg 'locking', could this be cramp due to vitamin or mineral deficiency? I used to get cramp quite a lot before I found that I was deficient in sodium and increased my intake and also started supplementing other minerals.

    I wonder whether some of your psychological issues (e.g. impulsivity) could be diet-/gut-related. I discovered the term 'somatopsychic' recently and it relates to the mind being affected by the body, as opposed to the converse - 'psychosomatic' (which I suspect is actually much rarer and is grossly overdiagnosed).

    For example, a number of us have found that our anxiety is greatly reduced by dietary change and supplements. Mood is also known to be affected by diet.

    Here's an interesting recent thread relating to the gut affecting the brain.
     
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  12. taniaaust1

    taniaaust1

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    Im pancing right now, just had a call from my support agency to say that my normal Tuesday worker cant come today, so this means Im going to TWO completely new people turn up. (I hope they dont cause me to end up in hospital).

    Ive gone on and on to the agency to make sure they come without perfume or airfresheners in the car and thou reassured that wont happen, well experience has proven over and over that that doesnt mean its not going to occur again.

    **fingers crossed for this time**
     
    Last edited: Jul 7, 2014
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  13. taniaaust1

    taniaaust1

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    Lots of people dont have good food control if things if they can access things they arent allowed to have but really want. If that wasnt the case there wouldnt be so many obese people about!!! Look at people and how well they often stick to diets, its far worst for me as my diet needs to be far stricter then most and Im highly limited in what Im allowed to eat. Im actuallly hardly ever (except with food) impulsive, I have a tendancy to over think things before doing them.

    My severe mood swings, we worked out years back what was causing them, they were related to PMDD (the severe version of PMS so happened) and diet related due to my insulin issues. If Ive breached my diet carb wise, I can easily be emotionally set off. Other then those things, these are the only psych kind of issue I have (thou some call Aspergers a mental health thing but I dont, I just see it about being a bit different to most).

    I dont have depression as such (thou we all have our bad days with this illness), nor do I get chronic anxiety (I used to thou due to the ME and hence was on drugs for that for a while). The things I do get anxious about now, it usually turns out I was anxious with very good reason, as things do end up often majorly screwing up like I thought they would.
    ........

    The leg thing wasnt a cramp but something else, I cant really describe it well. I do get cramp at times so know what cramp feels like. When I get cramp too, it isnt like a tiny little bit of pressure onto the cramp is going to actually rip a muscle (that's how I fix cramp)... something which what happened thou was really wrong. (its like when my shoulder tendon first tore.. from a little reach out). There is something not right, going on with my body at times.. (haha that is a kind of funny thing to say coming from a ME person, but I hope people get what I mean).
     
    Last edited: Jul 8, 2014
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  14. taniaaust1

    taniaaust1

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    I ended up phoning the support agency back within 30 mins of speaking to them as on thinking about it (I couldnt think on the phone right away as my brain takes time to figure things out), I could see it was quite a stupid risk to be taking to go shopping with two workers who dont know me and would of caused too many issues as I also need my workers thinking for me sometimes too.

    So I asked for only one worker to be sent today for the house and said to put the other on my Friday time when one one of my normal workers will be here and we'll shop then. The agency thou has told me they are going to dock me 1hr of my support time for changing the worker at the last minute. Im annoyed about this as it wasnt my fault that I cant think ON THE SPOT! and didnt tell them that when we spoke, I did call them back within 30mins of finding out about all this and as soon as I was thinking clearly about it. My medical conditions, they arent having any consideration for at all!!!!
    ...........

    I went to ring my advocate over this latest problem but my phone went flat, so its now on the charger and probably wont be charged and working good till after she knocks off (and I dont think she works tomorrow). (Her number is on my mobile). I also havent got to ring my GP yet about ending up in hospital on Friday, I was going to do that too so it looks like that is now going to have to wait till tomorrow (on what is supposed to be my rest day after having two "activity days", that's what screwed me up some a few weeks ago and put me into hospital the next day, not resting on my needed rest day and having to do too many phone calls the day before).

    My body seems to be able to cope with 2 days straight of small amount of chores, but 3 days straight.. nope.. its a risk.
     
    Last edited: Jul 8, 2014
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  15. Little Bluestem

    Little Bluestem Senescent on the Illinois prairie, USA

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    I’m finding it difficult to get my head around. I have never personally needed an ambulance. Our local ambulance crew have been wonderful on multiple calls for my Dad and Mom, even the time Mom was on the floor. Even the time we did not get the furniture move out of their way before they arrived.
     
  16. MeSci

    MeSci ME/CFS since 1995; activity level 6

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    Re the impulsivity I meant this bit, I think:

    I didn't mean to imply that you have psych issues other than those you mention. I think you explain your problems very well.

    I know what you mean about depression and anxiety often being circumstantial. It's the same with me, apart from the fact that (whoops - my mouse is behaving strangely and submitted this before I had finished!) a high-carb diet makes me anxious. I suppose that is circumstantial in a way.

    Yes - I too see Asperger's as a personality type, not a mental illness. I think that this is the 'official' view nowadays too. People just used to be viewed as individuals. I don't think we put people in boxes as much as we do now. Maybe that's the psych industry being too powerful. Even now they are trying to invent new 'illnesses' to describe normal behaviour. :(
     
  17. MeSci

    MeSci ME/CFS since 1995; activity level 6

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    It's extraordinary how organisations and services set up to help the disabled and otherwise disadvantaged don't take account of the problems caused by disability. I get the same, mainly with the local council with relation to my council tax reduction, which as I have pointed out to them, I would not need if I were not disabled as I would be in employment and earning a reasonable income! They also ask to me to do things more quickly than I can, keep saying that they want to phone me when I have already told them that phone calls are difficult and that the Equality Act says that they must communicate in accessible ways with disabled people, and tell me to go to places that are too far away for me to access. Even the local office is now up a very steep hill which I struggle with, but because it has disabled parking and automatic doors and a disabled-accessible loo it is claimed to be accessible. What about those of us who have no choice but to walk?

    The Working Tax Credit people are generally better, but they have impossibly-long waits on their phone lines and I have to give up because my arms are exhausted and hurting.
     
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  18. taniaaust1

    taniaaust1

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    FOUND!! Mastocytosis gene mutation, double copy

    I shouldnt be getting all excited about this but crazily I are, I just knew I had some mast cell disorder thing going on too due to some of the symptoms Ive got at times (skin writing disease, darier sign etc). I was going throu the list of my double copy rare mutations from Valenjins program and came across the name of one which is in only 5% of the population and I recognised it immediately as one I'd seen the other day when researching mastocytosis. . PDGFRB .. rs11740355 . http://diseases.jensenlab.org/Entit...eriments=10&type1=-26&type2=9606&id1=DOID:350
     
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  19. taniaaust1

    taniaaust1

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    Your post reminded me of a couple of months back when we had to vote and due to me not being able to get in on the day of the voting as I had no support to take me there, so I did the special early voting thing. Thing is thou many disabled people would of done that due to not having carers available on weekends, there was no toilets at all there! Huge issue for me when Im needing to pee so often with the POTS.
     
  20. Valentijn

    Valentijn Activity Level: 3

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    There's no direct research linking that SNP to mastocytosis, but it is on a gene linked to mastocytosis. 0.23% of the general population are calculated as homozygous for it, and 9.1% heterozygous. Though it might be more common in Europeans, as the actual homozygous prevalence in a sample of 113 Europeans is 3.5%.

    The 23andMe results look accurate for that SNP. 11 controls are homozygous for TT, and one is heterozygous. For patients, only Tania has GG, and two others are heterozygous, and 9 have TT. rs11740355 isn't known to be a missense mutation, but I don't think it's ruled out as one either.
     
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