Anyone have any information about autoimmune channelopathy?

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My teenage child has been tentatively diagnosed with what her specialists are refering to as autoimmune channelopaty. We have been told that her immune system is attcking the ion channels in her nerve cells.

We were also told that this is an area that isn't well known yet.

I have tried to find more information about this, but haven't found much. Does anyone have any they can share? Can this get worse, does it go away with tretament? ( she's receiing IVIG therapy) .

her symptoms rnage from tremors, myclonus, pain, nueritis, Raynaud's phenomenon ( not related to being cold or nervousness), etc.

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11 Replies

  • Posted

    Hi l,m sorry to hear about your child, its worse than if its yourself, l worry about my sons in their 30s and living away. lve not heard of the condition, and so many of these auto immune conditions, and she so young.  It might take a while for someone in the know to get posting, but there is also another health site, called healthunlocked, also a forum about many condiitons, might be worth posting on that also. Best wishes to you both
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    • Posted

      Thanks for the reply.

      we were told that it's an area that is just beginning to be studied, and it took one of he leaidng experts in the world in the area of nervous system health to come up with that tentative explaination.

      Right now, she's on medication for pain, to control the myoclonus, etc., and the IVIG is supposed to help to moderate her immune system.

      Oddly enough, all of our children have issues related to the brian/nervous syetm. Two have autism related disorders and one also has depression and complex chronic pain syndrome.

      I hope your son is okay. No matter how old  kids get, a mom always worries.

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    • Posted

      l think immune conditions and nervous systems ones are a increasing problem in society, but relatively new reguarding research and understanding, makes me wonder if theyre related to modern allergens toxins in the envoirament, some more prone to them, and   l guess some run in families, so youve a lot to cope with, we love our kids and have the best times with them, worry also My eldest son has diabetes, another condition that many misunderstand be it a very long history and research, but dont think many , including patients themselves, understand  how much damage can be going on unseen, neuropathy, and he does get ill quite often, and yes it does worry me, as with seeing him eating chocolate, when young they think theyre invincible, but when getting to a certain age they listen to themselves, not mums as much. Wondering if its Fibromyalgia your child has, that a chronic complex pain fatigue problem, l,m being tested for it, l dont like the word syndrome, its like they use it to  make lighter of serious conditions, as with cfs also.  l guess you darent be ill, but glad if the treatment is helping her, and someone can advice you, surely its not that rare, usually someone on mbs has experience of every condition.  Ho pe you can get info and  advice to help you cope and improve your lot, for your kids also, good luck

       

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    • Posted

      Your observation is quite interesting. Part of it is that science is gradually developing the tools and methods that are necessary to understand and actually diagnose these autoimmune disorders, so more people are being diagnosed and treated, rather than succumbing to what would be have been a mystery disease a century ago. We also have greater access to quality healthcare in most countries compared to a few decades ago.

      In terms of the actual cause of autoimmunity, this isn't clear yet. We know that there are specific genes that put you at risk for certain autoimmune diseases, without which you are significantly less likely to develop the condition. However, there needs to be an environmental trigger for it to actually develop. For example, campylobacter infections that cause a 'stomach flu' can cause the immune system to attack the nervous system, leading to a condition called Guillain-Barre Syndrome.

      One theory for this is called molecular mimicry, where proteins from a virus or bacterium are very similar in shape to natural proteins within the body and this causes the immune system to become confused after an infection. MS is thought to be caused this way, and there has been at least one experiment showing that a strain of mycobacteria that produces a protein similar to myelin basic protein can prompt the immune system to attack the body's own myelin and damage nerves.

      Another theory is that immune regulation is impaired due to certain genes, so instead of instructing an autoantibody to destroy itself during maturation, it is allowed to replicate and become pathogenic. This is a possible mechanism for lupus, which attacks many different types of cells and body systems.

      There's likely no one cause, and there are other theories that have been shown to apply to different kinds of autoimmune diseases. A combination of the right genetic environment, impaired regulation of antibodies, and the presence of infections or allergens that mimic natural proteins is likely required for most autoimmune diseases to develop, but once this does happen, the process is self-sustaining because the immune system has memory. Interestingly, a bone marrow transplant to replace the immune system has been shown to induce long-term remission by resetting immunity, but the condition can return if the right combination of causative factors occurs again.

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    • Posted

      That is really interesting, l,ll have to read it again to digest it, were very complex.  l have intersticial cystitus, researchers stilll not decided if its allergen caused or auto immune, but diagnosed by scope after years, but shows inflammation and damage to myeline sheaf of skin layer.  You also mention myco bacteria, well a couple of years ago l started with a few pinprick marks on the back of my hand, l,d been gardening and thought it bramble marks, but they got bigger, rash spreading, docs tried several ointments, had xray, kept growing, saw specialist had two biopsies, and he a professor, still no diagnoses, speculated psoraisis etc. by that time covered back of my hand, had to wear dressings, a new gp said, you dont have tropical fish do you, yes, bingo, myco marinus bacterium, picked up from fish tank, zebras l believe, related to tb, month of anti bs killed it, but left with white scar. Just this morning l was reading info on the zika virus, thats even vaguer, l heard of radio news before awake really that 3 people have now died linked to it, yet not a word on tv news, bbc or sky, strange, not on msn either, as if we dont all want to learn more about it, how its contacted, transferred, how its progressing, but nothing on msn either, is it censored by some media, do they think the public are going to mass panic, knowledge is good. But whilst reading a bit about it, they also mention guillan barre as if connected some way.  l think my allergen re rhinitus is formalin, it seems to be in everything l,m allergic to, but probably have iffy immune system. Presently being tested for fibromyalgia, as with many conditions that restrict lifestyle,along with social affects, you can miss the intallectual stimulation that you,d get in normal life, So l,m interested in your posts, fascinating.  Willl now read again to try absorb better in my laboured brain.  Thanks for info.
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  • Posted

    Electrolytes like calcium and sodium pass through ion channels to carry an electrical charge. One example of this working is in muscle function, where calcium passing through an ion channel causes the muscle to contract. When calcium is removed from the cell, the muscle relaxes again.

    When the ion channels are damaged however, through autoimmune disease or other means, this affects muscle contraction. Any damage that causes the cell to become more permeable to calcium can increase contraction, resulting in cramps and myoclonus. If the calcium can't enter the cell properly, the muscle won't contract despite conscious effort to control it, leading to weakness or paralysis.

    In your daughter's situation, because the condition is autoimmune it is her own immune system that is creating antibodies to attack the ion channels. She could experience a variety of different symptoms depending on where the damage is occuring as different cells produce different effects when excited by electrolytes.

    Unfortunately, being autoimmune means that the condition may never go away because the immune system is very persistent. In the same way that a vaccination can create lasting immunity for years or even decades against a virus, an autoimmune illness can sustain itself for very long periods of time. It is possible for conditions like this to go into remission for months or years either by itself, or after treatment, and sometimes it will go away entirely if the immune system manages to correct itself, but this doesn't happen often. The lack of research into channelopathy certainly doesn't help here, because there isn't much evidence to show whether the condition tends to be life-long or reversible.

    As with other autoimmune conditions, she may notice symptoms easing off at times, or flaring and becoming worse for a short period sometimes. The condition can also become more or less severe during other illnesses, with fluctuations in hormones, or due to diet and lifestyle factors.

    Ultimately, it's important to realise that even if the condition stays with her for life, treatment can suppress the autoimmune process, and new advances are always on the horizon. She can still have a good life.

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    • Posted

      Thank you for the information. It's really helpful.

      She's going t be getting her second session of iVIG therapy, and I am kepeng my fingers crossed that it will be successful.

      She's had a ton of blood tests done, as well as sevral MRI's, x-rays ( to try and find the source of her pain) blood tests, lumbar punctures, genetic testng and more.

      She's had genetic testing done by the Mayo clinic, and her doctors have spoken about her situation with experts in the field. \they've all been doing thier best to help her, and I know that means a lot to her.

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  • Posted

    I am sorry you are going through this. My son was diagnosed 5 years ago. The reason you may not have luck finding literature related to this condition is that it goes by several names "Autoimmune Channelopathy", Autoimmune Encephalopathy or Encephalitis" Paraneoplastic Syndrome", "Anti-NMDA receptor encephalitis". These Channelopathies are a fairly new disease process being discovered around 2009. They fall under the specialty of Neuroimmunology. High dose steroids as well as IVIG are what's recommended as first line treatment and if they are ineffective second line treatment are meds such as Cyclosporine and Rituxan. Maintenance meds can be given orally when initial flare is over. Literature suggests that if treated early after diagnosis most patients do well with little residual effects but relapses can and do occur. I live in Florida and my son was diagnosed at Mayo Clinic in Minnesota. Most of the groundbreaking research appears to be in UK and Japan. There is a researcher in UK Angela Vincent. If you google her and search "paraneoplastic syndrome" . My son is doing okay 5 years later he is a college student with a job but it's a constant struggle keeping up with appointments etc. I wish you and your daughter the best.
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    • Posted

      Thanks for the reply, and all the information

      i'm hoping the IVIG therapy works for her. She's a really smart kid, does well in school, but the pain makes her tired and she finds it hard to concentrate . Her hands ar ealso held in an odd position, and they hurt when she writes, so she wears a brace to help her hold he rright one in a better positon when she writes.

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    • Posted

      She's had two rounds of IVIG infusions,and the first seemed to make a differnece that lasted about two weeks. The tremors, myclonus and pain were better, but it all came back.

      She had more IVIG yesterday and today, so we are hoping it will help again. She's booked to have it once a month, and will be getting a full body MRI ( she's had 4 so far this year, but they mostly looked at specific organs) to make sure she doesn't have any primordial tumors ( i think I have that phrase right) thta could be causing her problems.

      Her doctors are continuing to do whatever they can for he and one of them has been tyring to get in touch with more experts in the field ( maybe even Ms. Vincent)  to see if they can make any further suggestions.

       

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  • Posted

    In case anyone has been following this thread, I'll provide an update.

    our daughter has been receiving IV immuneglobulin therapy for a few months now. She gets it for two days one a month, but the effects only lasted about two weeks. Her doctors are going to try splitting the dose so she gets it every three weeks.

    A specialist from the UK in the area of channelopathies has agreed to help advise her doctors here, which is very kind of them

    If the IV Ig therapy doesn't help, then other therapies might be considered. The poor kids has been poked, prodded, had a lot of tetsing done, but still no many answers have been found.

    We do know now that ts nto related to neoplastic syndorme.

    The good news is taht her doctors are all awesome. She is receiving excellent care, and has been to see the pain team which was able to provide medication free pain releif ideas. All her doctors work so well together, and she couldn't get better  and more kindly care.

     

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